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Exercise Does Not Take Time in Your Life, it Adds Life to Your Life !
Living with Cystic Fibrosis
SVB 2015
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Editor Richard Leboeuf-McGregor Editing/translation Rachel Rouleau Joachim Lépine Michael Reilley Contributors Charlène Blais Viviane Crispin Alain Larouche Sarah Dettmers Karleen De Rijcke Dr Alphonse Jeanneret Marilyne Petit Kylie McGirr Dr André Cantin Joanie Bernier
CONTENTS
SVB 2015
Message from the Editor Living with cystic fibrosis: 30 years at your side
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Reflections
Special thanks Bruno Falardeau Sylvie Dufour Jocelyn Bourbonnais Valérie Mouton Éric Taillefer
30 years living with cystic fibrosis… and chasing after my dreams!
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When reality catches up
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Journey of a fighter
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Interview Cystic Fibrosis Ambassador, from one ocean to the other
Graphic Designer François Jean
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Health
Photography Depositphotos iStockphoto
Mucociliary clearance in the airways
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Nutrition
Printing FJDG Montréal, Quebec, Canada
Nutrition Rules for Cystic Fibrosis Sufferers
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Psychology
This magazine is produced through the Living with Cystic Fibrosis and the generous participation of its sponsors.
Learning by Risking
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A Footprint in Time
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History Cystic fibrosis: a 34,000-year history
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Living with Cystic Fibrosis 629 Prince Arthur St. West Montréal, Quebec H2X 1T9 514 288-3157 / 1 800 315-3157
Research
E-mail info@vivreaveclafk.com
Health Column Sexuality and Cystic Fibrosis
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Web site vivreaveclafibrosekystique.com
Inhaled medication
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Pneumothorax
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Facebook Facebook.com/vivreaveclafk
Dangers of ecstasy
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Cystic fibrosis research in 2014
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Twitter twitter.com/vivreaveclafk
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January 2015 Copyright 1st trimester 2015 Bibliothèque nationale du Québec, D9150134 National Library of Canada, D411325D
Cystic fibrosis is a hereditary disease that affects the lungs and digestive system as a result of poorly functioning mucus glands. Although research has made tremendous headway, it has not yet come up with a cure or a way to fully bring the illness under control. Problems with mucus glands cause problems with digestion and lung function. Mucus is normally fluid and helps keep the lungs and airways clear by helping to eliminate germs and dust particles. But the mucus in cystic fibrosis sufferers is thick and sticky and obstructs the bronchioles, making it difficult to breath. Air ends up getting trapped in some bronchioles and the lungs become clogged up with mucus. This is turn causes bacteria to accumulate and multiply in the clogged bronchioles, leading to infections. Treatment for cystic fibroses mainly focuses on pulmonary problems, given that the mortality associated with the illness is primarily related to lung infections and lung function. Lung treatments are aimed at loosening up and expelling the mucus blocking the airway in order to improve pulmonary operation. In many cases, frequent treatment by antibiotics is needed in order to get the upper hand on the many infections that develop in the lungs. In very severe cases, the lungs can get so badly damaged as a result that a transplant is the only solution. Mucus also blocks the tiny ducts of the pancreas, an organ located beneath the stomach, near the intestines. The pancreas secretes enzymes that are normally delivered to the small intestine to help digest food. When the openings of the pancreas are blocked by mucus, these enzymes can no longer reach their destination and food leaves the intestines only partially digested, depriving the body of a portion of the food’s nutritional value. Cystic fibrosis symptoms appear early on in life. In some individuals, they first show up in the lungs; in others, the digestive system. However, most people with CF, whether children or adults, suffer from both types of symptoms.
‹ MESSAGE FROM THE EDITOR ›
Living with cystic fibrosis: 30 years at your side
On behalf of the entire team at the Comité provincial des adultes fibro-kystiques (Adult Cystic Fibrosis Committee of Quebec or ACFCQ), now known as Vivre avec la fibrose kystique (Living with Cystic Fibrosis), it gives me tremendous pleasure to present this new edition of SVB. Over the past year, I became the ACFCQ’s new coordinator. This position has made me aware of the tremendous scope and importance of the work done not only by all those who have come before me, but also by all those who have generously given (and continue to give) of their time to help their fellow cystic fibrosis (CF) sufferers. Although I was previously familiar with the achievements of the ACFCQ, I did not realize all the work it did, day in, day out. In 2015 we will be celebrating our 30th anniversary. Over the past 30 years, the ACFCQ has evolved in step with those it has represented, reflecting three eventful decades of change. From a handful of founders, the organization has never stopped growing over the years, going from a few dozen to nearly a thousand members today. Many people thought the organization would survive just a few years. But with the help of our partners, we have grown in strength. Valuable partners such as the Fondation l’air d’aller and Fibrose kystique Québec have supported our mission from the very beginning. This mission remains unchanged: to do all we can to properly represent people suffering from cystic fibrosis. Over the past thirty years, we have continually strived to defend and support CF patients’ quality of life. Today the main focus has shifted from finding a cure to providing physical and moral support to CF patients. Although researchers continue to look for a cure, our new name reflects our mission and our new realities. Living with cystic fibrosis means much more than taking medication and undergoing daily treatments. It also means learning to live with personal limitations that may seem insurmountable—even if, against all odds, they can sometimes be overcome. It means doing whatever it takes to start and finish school, found a family, and live out your passions. We also know that for some people, it means hanging on, while waiting for a transplant that never seems to arrive. Our mission is also to stand by you, come what may, through the good times and the bad. Hundreds of cystic fibrosis patients need support and advice to be able to live their lives as normally as possible. We are the only cystic fibrosis organization composed of and exclusively run by people who, like you, are suffering from this disease on a daily basis. Living with cystic fibrosis is more than a cosmetic change. It is truly a shift. Moving forward, we are no longer reaching out to adults only, but also to soon-to-be adults. This edition of the magazine introduces three inspiring individuals who have agreed to tell us about their lives and accomplishments. You will also get to know an amazing woman who, in spite of her young son’s illness, articulately expresses the positive side of each moment in her life. Finally, you will learn about the latest advances in the scientific research on cystic fibrosis. On a much more personal note, I want to urge you to fight. Those who stubbornly keep their chins up and refuse to be downbeat generally come out victorious. Some will lose many battles along the way; others will lose the final battle. Of course, you can’t conquer something over which you have no control. But victory does not necessarily mean vanquishing the illness: it also lies in being able to dream our dreams and make them come true. Our dreams are much stronger than the disease because they are driven and fueled by hope. Every day, in all sorts of ways, the dedicated members of cystic fibrosis clinics work veritable miracles. We know that our victory is not so far off—indeed, our victory is at hand. Happy reading!
Richard Leboeuf-McGregor
SVB 2015 3
‹ REFLECTIONS ›
30 years living with cystic fibrosis… and chasing after my dreams!
Charlène Blais Magog Quebec, Canada
J’aiAlthough I have been living with cystic fibrosis for 30 years, I was only diagnosed with the disease when I was 13. As a child, I already suffered from constant, severe stomach aches. Each winter, one or more of my colds developed into “pneumonias.” My mother, growing tired of going to the emergency room only to be turned away for a mere stomach ache or cold, turned to alternative medicine for help. This turned out to be a good move; my stomach aches eventually subsided and I was able to live a “normal” childhood, without being sheltered or undergoing thousands of treatments. I was actually diagnosed after my mother grew tired of hearing me complain about my aching feet! We had gone to see a podiatrist to find the source of the pain. At the end of the appointment, after taking a look at my nails, the doctor asked whether I sometimes coughed for no reason. Unthinkingly, my mother and I both answered “no.” But the podiatrist pointed out, “Charlène, you’ve coughed at least three or four times over the past 30 minutes.” We had gotten so used to my coughing that it did not even register anymore. This observation, along with the fact that I had a cousin who had died of CF, was enough to prompt the doctor to give me a referral for that sweat test we are all familiar with. The diagnosis, as you’ve probably guessed, was positive, or else I wouldn’t be writing in this lovely magazine! I would add, however, that I also found out I had flat feet! How did I take the news as a young teenager? I was convinced the diagnosis was a mistake. I was fine; I didn’t look like all those kids in the cystic fibrosis information brochures. In spite of my denial, I was thrilled with the digestive enzymes I started taking. In just one year, I gained 40 lbs, blooming into a bona fide teenager! What’s more, my stomach aches were
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nearly gone, and I was tolerating my inhalation treatments well. (I was a good girl who did as I was told— brushing from top to bottom, never getting into a car with strangers, and so on. If I was told to inhale my medication, I would do it!) I would say I was about 20 when I accepted that I had cystic fibrosis. After the ACFCQ held elections, a position opened up for Regional Representative of the Board of Directors. I’m the kind of person who likes to get involved in all sorts of things, and I’m always happy to be able to fill a vacant spot. Before attending the first meeting, I had never spoken to anyone else with CF in person (my cousin had passed away when I was four years old and the hospital avoided exposing us to other CF sufferers, to avoid cross-contamination). On the Board of Directors I got to know real people at different stages in their illness, but no one on an artificial respirator as I had imagined. My involvement had several benefits: I learned more about CF, and, thanks to everyone I met through the organization, I finally came to terms with the fact that I was living with cystic fibrosis. So, how am I doing now? For the longest time, I felt bad about telling people I was alright. So many of my friends and acquaintances with CF are not alright. Why are my lungs still working well? At 30, I still have no answer to this question, but I have accepted that we all have a different experience with the illness. I am proud to say today that my FEV1 is around 105% and I have yet to be hospitalized. I tell myself that it is inspiring to be able to live well with CF, even with the F508D double mutation. At the same time, I feel I owe something to all those who are not faring so well. This explains why I have now been working at ACFCQ for 10 years,
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I’m not sure I would say that I’m an especially positive or lucky person. What I do know is that I have many dreams, and I am fortunate enough to be able to say that I have realized some of them.
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defending the interests of all CF sufferers—many of whom do not necessarily have the energy to get involved—and working toward fulfilling this organization’s beautiful mission. What about my dreams in all this? I’m not sure I would say that I’m an especially positive or lucky person. What I do know is that I have many dreams, and I am fortunate enough to be able to say that I have realized some of them. My modus operandi is this: I set one goal at a time, and I put a lot of energy into it. When I was younger, I dreamed of having a horse. I found a job in a stable near home (I was already working at 12 years old). I would cut out all the newspaper classifieds that advertised horses for sale. I kept bugging my parents to get one, but they didn’t have the money. You can probably imagine what I chose as my childhood dream after I was diagnosed! My lovely horse is still with me; she, too, is turning 30 this year! In high school, I chose my future career based on the goal I had set for myself, which was to become independent and start living my adult life as soon as possible. (The doctors had cited the median age of 34 years old, so I had 15 years to live an entire normal human life!) I asked myself what would allow me to make money, but without requiring 10 years of studies. The answer I came up with was a technical degree in civil engineering: three years of CEGEP for a comfortable starting salary. I graduated at 19 and bought a house at 21. I had won the independence I had dreamed of! As a very “girly” girl, I also dreamed of meeting the man of my dreams. Love is like good health; you can hope for it all you want, but you don’t have much control over it… But in my love life, too, I was fortunate. At 24, I got married with a wonderful man who accepts me just the way I am and stands by me every day. At 27, I burned out. At this stage I could no longer deal with civil engineering. When you choose a career for the money, it can’t keep you satisfied very long. In addition to
tension at work, my husband and I had decided to expand the house in order to be able to have a family. We put all our free time into this project. And to make things even more stressful, because I was unable to get pregnant, we tried a fertility clinic and I went through five artificial inseminations that required me to take hormones. My outlook was this: failure at work, stress at home, and still no baby on the way. I couldn’t take it anymore. After a great deal of soul searching, I arrived at the conclusion that I would find happiness in the world of farming. I decided to drop everything—work and baby-making. And I went back to school. I finished my studies last May, earning a technical degree in business farm management and operation. This education has allowed me to realize another long-cherished dream. I entered Chapeau les filles, a contest for girls studying traditionally male trades, and won an international farming internship in the country of my choice. I had always wanted to see the beaches of French Polynesia, and that’s where I decided to do the internship. In 2013, I spent a month in paradise! What are my dreams now? I want to start up my own greenhouse business. Growing vegetables is my passion! This winter, we are going back to trying to make babies, but using in vitro fertilization. We’ll see how things go. I have no specific definition for happiness. Should we chase after our dreams or live in the present moment? Personally, I try to do both! I have chosen to tell you about the positive things that CF has brought into my life (determination, the joy of living, and the drive to live life to the fullest). I could have told you about the negative aspects of the disease (the depression, the treatments, the countless mornings of waking up feeling like a wreck, and my rage against CF), but I know you are already familiar with all of this. Such experiences, too, are part of my life, and I struggle each day to accept them or, at least, to learn to live with them. SVB 2015 5
‹ REFLECTIONS ›
When reality catches up
Viviane Crispin Montréal, Quebec Canada
I will be 30 years old next year. Five years ago, before I underwent the procedure to replace my lungs, never would I have thought to live so old. I think that, even as a teenager—when all hope is allowed—, I didn’t believe I would become an adult. I wasn’t disillusioned; I was being realistic about my health. I wasn’t doing so bad, but not so great either. I knew the statistics of the time on the life expectancy of those living with cystic fibrosis, and I simply could not see how I would be able to live until then. When I finally had a place on the waiting list for the lung transplant in 2007, I knew I had reached a turning point. The doctors said that I would only have two years left to live without the transplant, and the possibility of not living through the operation was very real. Even though I was tired and did not wish to fight that much anymore, I still wanted to go through with it, but I have to admit that part of me only survived during 21 months. On September 3rd, 2009, at 23 years of age, I finally received my lung transplant. As I was heading towards the operating room that day, I still had this feeling that my life could end right there and then, but still hoped I would not be disappointed. Luckily, all went well. I only stayed at the hospital for three weeks after the operation, and the rest of my convalescence also went smoothly. I started having very high expectations about my life after the transplant. Life would be completely different from now on— totally awesome! It had to be this way because I had received a wonderful gift—the gift of life, a second chance that was unhoped for. Nothing would stop me now!
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In my mind, I was as healthy as a horse! I had to catch up for all the time that I had lost since the diagnostic of cystic fibrosis—going through treatments every day, always being in the hospital because of lung infections, resting, etc. I wanted to meet new people, find love again, a part of my life that I had put on the backburner for years. I wanted to finish my bachelor’s degree in social work which I had started five years prior. And so I went back to university to complete the year that was missing before I could get my degree. I would go out with friends, try out new restaurants and see tons of movies. I also went to New York City for the first time and got myself a whole new wardrobe. I wanted to experience everything and succeed at everything. I did my first social work internship at the Geriatrics Department of Montreal’s Hôpital Notre-Dame in September 2010. I felt I had made the right choice since I knew my way around hospitals. The thing is, I knew hospitals as a patient, but not as a social worker, and as time went by I felt more and more that something was missing. I was disorganized, tired and could not sleep well. I felt like a heavy weight was on my shoulders every time I entered the hospital. I didn’t want to admit it, but deep inside, I wasn’t mentally or physically ready to go back to school. My supervisors put an end to my internship a month and a half later because I wasn’t a good match. I went back home, my pride wounded, but happy at the same time. I was kidding myself by thinking I was ready. I had gone too fast. I spent the rest of the year biding my time and preparing for a new internship in the fall of 2011. I wanted to go somewhere totally different and had a boyfriend who supported me entirely. I could not predict that life had another surprise for me.
One morning in August 2011, I woke up with persistent nausea and felt extremely weak. After a visit at the hospital, it was determined I had a simple gastric infection and was sent back home to rest. Two days later, my parents brought me back to the emergency room with strong fever, little actual strength and the inability to keep down anything I ate. In just a few days, I went from bad to worse, and became completely unaware of what was happening around me. I could no longer swallow, and the fever would not go down. The doctors had no idea of what was happening to me. Since there was no available bed in intensive care, I spent 4 days in the emergency room. I was reactive to no treatment and getting weaker by the hour. I went into a coma not long after, and they finally found out what was wrong with me—part of my brain was inflamed, which caused problems with my motor skills and body temperature. I had encephalitis. After endless tests, many causes were put forward, but none of them seemed to fit the bill entirely. Doctors decided to attack the long list of prescription drugs I was taking and start from scratch to see if any of them could be the cause of my problems. After a few days, my fever went down, as did the inflammation in my brain. The most probable conclusion was that I was getting intoxicated by one of my anti-rejection medicines. I had been taking those for at least two years. I emerged from my coma after one week. I was disoriented, but mostly discouraged by the fact that I could no longer speak, walk or eat by myself. I had lost all the muscle tone I had gained after my transplant. My rehabilitation was long and I would often think that I would not be able to make it. My neurologists were convinced that the damage I had
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Now, instead of trying to do everything at the same time, I try to take it one day at a time. I’m not saying that’s what I always do, but it is a life objective that I have set for myself.
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sustained to the brain was reversible, but I sometimes had a hard time believing it. I soon had side effects from the encephalitis and the antibiotics I had to take, such as kidney failure. My spirits were at an all-time low, in part because of the high doses of cortisone I had to take, which would make me cry for no reason. I could not believe something like this was happening to me—a survivor. The transplant was supposed to end my bad luck and health issues. I felt like I was going back to square one. I wanted to give up on everything. I had missed my second entry to the internship. I didn’t want to start over a second time. I couldn’t see any reason for it. Life had promised so much and, in the end, it had broken its promise. Two months later, I was out of the hospital and living back with my parents. I want to take that time to thank them for their patience and their support. I don’t know what I would have done without them. All was coming back slowly: speech, energy and being able to walk again. My kidneys were starting to function normally again. I still had to accept living with some constraints, even though I had first believed that the transplant would make all those limitations disappear. It’s a tough learning curve, and I haven’t finished learning to live with all this yet. SVB 2015 7
When I look back on it all, and even if I am at times still cast down by challenges, what I have been able to accomplish since my first recovery makes me believe that it happened for a reason. Today, I have a bachelor’s degree in social work, live with my boyfriend in a nice apartment, enjoy a new kind of autonomy and have many projects brewing. My life is far from perfect, but it fits my personality better—more calm and serene. I realized that I had set the bar too high after the transplant. I should have taken more time to adapt to my new life. The fall could have been far worse. Now, instead of trying to do everything at the same time, I try to take it one day at a time. I’m not saying that’s what I always do, but it is a life objective that I have set for myself. Sometimes, I would say it is even a burden to bear. I feel like life will never go fast enough for my taste. I probably will always have this feeling of dissatisfaction with life, but I force myself to say and believe that, after all, I haven’t even turned 30 yet, and thanks to the transplant, I still have many years in front of me. So why try to go too fast?
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‹ REFLECTIONS ›
Journey of a
fighter Alain Larouche Alma, Quebec Canada
In early 2011, my health was becoming increasingly unstable. The state of my lungs was getting worse, robbing me of a great deal of energy. I was losing weight and getting more infections than ever. In April, while I was hospitalized, my doctor told me I needed to start using oxygen and get a gastrostomy. As time wore on, in spite of all the treatments, my health got no better. On my doctor’s recommendation, I began the process for getting a double-lung transplant. I underwent my pre-transplant tests at the end of that summer. The results were a long time coming— I desperately hoped the answer would be positive, above all because I wanted the opportunity to have a new and second life for the sake of my daughter. I wanted more than anything to see her grew up and spread her wings. After several weeks’ wait, I was overjoyed to find out I was accepted. At that time, my health was continuing to decline. My lungs were operating at less than 30% capacity, requiring another treatment. Every night up to the transplant, I was going to need to plug into a BiPAP machine to be able to breathe properly. The year 2012 was a year of endless stays at the hospital. The infections were persistent and barely controllable. I can’t even begin to tell you how often I became critically ill and my spouse had to stay cool and collected in order to keep me conscious while waiting for the ambulance to arrive. Thank God, this mostly happened at night, sparing my daughter the pain of having to see me in this state.
In October, the doctor told me I would need to be rushed to the Hôtel-Dieu de Montréal, where I could get better care from doctors with greater expertise in cystic fibrosis. My spouse and I went through a roller coaster of emotions. We were torn, because our daughter could not come with us. With a heavy heart, we prepared for the transition. We had to abandon our entire lives overnight—our daughter would stay with family in Lac-Saint-Jean and my spouse would take time off work to accompany me to Montreal. Thankfully, the team of doctors at the Hôtel-Dieu was just amazing. We forged extremely close and strong relationships, both with the doctors and also with other CF patients. Today, my spouse and I consider all of these people our second family. But the wait for the transplant kept getting more difficult. My lung capacity dropped below 20%. I was almost never able to leave the hospital anymore. The year 2013 was hardly any better. At less than 20% capacity, you can’t do much physical activity. Getting dressed, brushing my teeth and eating became a battle. The most essential thing of all, simply being able to breathe, was becoming a moment-to-moment struggle. Throughout this period, my spouse stayed by my side, 24 hours a day, to give me physical support—but even more importantly, to lift me up with psychological encouragement. Unfortunately, the toughest times were yet to come. New problems cropped up. My resistance to antibiotics required me to try out new treatments that caused allergic reactions and liver problems. I almost died. The doctors even began talking about the possibility of a double transplant—lungs and
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We had to abandon our entire lives overnight—our daughter would stay with family in Lac-Saint-Jean and my spouse would take time off work to accompany me to Montreal.
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liver. The medical team decided to put me on the emergency list for my lung transplant, in hopes of avoiding the need for a new liver. Two weeks later, on October 10, 2013, I got the call I had been hoping for with all my heart. I had a donor! The operation was a success. To this day, I have not had a single problem with my new lungs. Just two weeks after the transplant, my feet got tripped up in the tubes from my latest thoracic drain and I fell, fracturing my hip. My femoral head needed to be replaced. I transitioned to the Maison des greffés Lina-Cyr for my recovery, before finding myself back in emergency care with extreme abdominal pain. Here I stayed several weeks, because of fears of a liver reaction. Operating on my liver was not an option, since this would have compromised my newly transplanted lungs. After multiple examinations, the doctors realized that the pain was coming from my gall bladder. It would have to be removed. The operation did not go smoothly and I suffered a hemorrhage. I would need another operation, my second one in less than 24 hours. When 2014 came around, I enjoyed some respite and tried to take advantage of the new life that I was beginning to look forward to. But then my kidneys decided otherwise. A cluster of kidney stones had formed, and two operations would be needed to remove them. The bad news did not end there. In May, a bacterium became lodged in my liver and caused shock when it infected my blood. I needed to be hospitalized for several weeks more. A third of my liver was removed. The operation went well, and I was finally allowed to go home to Lac-Saint-Jean. I came back to my daughter, who I had missed so much. Less than 24 hours after coming home, I was rushed to Montreal by plane because of a liver abscess.
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To treat all the infections related to my cystic fibrosis, I had been given enormous amounts of antibiotics over the years. They had taken their toll and my kidneys had suffered badly. I experienced kidney failure. After all the time I had spent in bed as a result of the many the shocks my body had absorbed, my physical condition had deteriorated and I had to undergo intensive physical therapy to be able to walk again. After everything I went through, I think it is important to look at the positive side of the story. I was not alone in facing these ordeals. I have shared my life with a wonderful woman for more than 11 years. Like me, she has never given up. She has always been there through all the tough times. She always pushed me on to fight harder every day. She has never run away from the realities of this terrible disease and its unpredictability, no matter how hard things got. Instead of separating us, cystic fibrosis has brought us together more than ever. Bolstered by my spouse’s unconditional love, I have never lost hope. I can say that I’ve realized my dream, which I am living together with my daughter. On September 20, 2014, we got married in the presence of our parents, our friends and even a few members of the media. We spent this memorable, emotional and love-filled day at the Maison des greffés, surrounded by those dearest to us. Whatever struggle you may be going through, stand tall and never give up. In each of us, there is a warrior waiting to be awakened and to fight!
‹ INTERVIEW ›
Cystic Fibrosis Ambassador,
from one ocean to the other Interview with Sarah Dettmers
Full of boundless energy and vitality, Sarah Dettmers has been travelling throughout Québec and Canada for a long time to sensitize the population to cystic fibrosis. Her involvement, along with her family’s, came about in a unique way. Now 27 years old, she often speaks at events organized by Cystic Fibrosis Canada and reminds us how unexpected events can at times change our vision of life. Interview held by
Richard Leboeuf-McGregor
Sarah, your father’s involvement in the cystic fibrosis community goes back several years before you were born. Can you tell us why? In 1984, my father worked at Head Office of Zellers. That year, the company decided to sponsor and organize a walk to fund research against cystic fibrosis. One day, a little girl, accompanied by her parents, came to Head Office to educate employees about the importance of participating in this activity. My father, a man with a big heart, literally fell in love with this little girl and her story. So he became a volunteer for the walk organization and then rapidly became one of the main organizers. I was born in 1987, and at the age of 18 months, we discovered that I had cystic fibrosis. Such ironic fate… Obviously this was terrible news for my family, but also for all employees of the Zellers Head Office: little Sarah, the daughter of the man who had organized the great fundraising effort for cystic fibrosis, was suffering from this terrible disease. It was a real shock. However, from that moment on, the company became even more involved in organizing several other fundraisers. My father would deliver testimonials during which I accompanied him. He would take me in his arms, and I would take the microphone saying to people “merci beaucoup, thank you very much!". I would receive standing ovations; I just loved it. Zellers flooded me with gifts: toys, Walkmans, stuffed animals. Of course, this just encouraged me to continue my involvement, because in
return I would receive many rewards; the more time went on, the more I wanted to get involved. Was your involvement limited to activities organized by Zellers? No. You should know that since my father was English-speaking and my mother French-speaking, I am perfectly bilingual. Cystic Fibrosis Canada (CFC) then approached me, since I was the candidate of choice for making speeches at all their events. So I got involved in several activities, but my most memorable moment was my encounter with Céline Dion. At the last show of her 1993 tour, I had the privilege of co-hosting the evening with Sonia Benezra. I believe that it is from that moment on I became, in a way, the CFC sweetheart! You became a true Ambassador in the cystic fibrosis community. How did you experience this? Around age 12, my parents asked me if I was comfortable with everything I had experienced. Obviously, they admitted that they had led me to become involved, and they felt great to see me participate in all these activities. But they wanted to know if I was happy with everything. This was not even an issue. I've always loved being on stage and speaking in front of an audience behind a microphone. Incidentally, I subsequently pursued my studies in theatre. My various involvements have certainly guided my career choices. Studying theatre at CEGEP and university was a real passion for me.
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How did your studies go? Did cystic fibrosis limit you?
Many questions come to people in such situations. How did you experience these events?
Before age 20, life had spared me all the inconveniences that several other sufferers experience. I knew nothing about hospitalizations. Plus, I’m an eternal optimist, and there’s always someone who experiences a situation worse than mine! One day, reality overtook me, and my condition deteriorated dramatically. I lost much of my FEV1; the situation became catastrophic. Pneumonia and infections followed one after another. Doctors were afraid for me and I, more than anything, was afraid of dying. The situation gradually improved. I then became aware of my overall condition and I began to really understand what living with cystic fibrosis meant.
I understood that I could no longer deny the disease. Too often, even when things were going badly, I told my family that I was fine. Perhaps this was due to my desire to overprotect myself, or not to worry my parents, but I wasn’t honest with them and with myself. Our disease is physically inconspicuous. Sometimes, we feel terrible, but nobody sees this. I like to compare different aspects of cystic fibrosis to an iceberg: people see only 10% of the situation, not our condition in full! Nevertheless, I continued to deliver testimonials and meet people to raise awareness of the disease. It helped me to talk about it.
Therefore, it became obvious that I could never work in the theatre, which had become too demanding for my condition. At age 24, I had to sit down and really think about how I was now going to live my life. I worked at various jobs for one year from a waitress in a restaurant to a cashier at Tim Horton’s. I no longer knew where I was headed. It was much like what people experience in their forties, but I was only 24! One day, by chance, I got in touch again with a girlhood friend. She and I share the same passion for travel, and she had made a career. So, that was it! I had finally found my "vocation"! A month later, I was included in a crash course to become a travel consultant and I obtained my diploma a few months later. This was the ideal situation, because I could now work at my pace, at my home.
Inevitably, when our health deteriorates, we think of transplantation. Does this scare you? Not at all! Above and beyond all the fears that I could have, under no circumstance will I refuse transplantation if I have to have it. My desire to live is stronger than any imaginable fear. On the other hand, I do fear the impact of this intervention on the people I love. The day when I have to tell my parents that I am on the waiting list, will be like the blow of a knife for me because they will finally be faced with my true state of health. However, I have not yet thought about what my life would be like following a lung transplant. I'm not mentally ready yet, since the disease does not limit me too much.
“ I like to compare different aspects of cystic fibrosis to an iceberg: people see only 10% of the situation, not our condition in full!
”
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Does your involvement have repercussions in your daily life? In a certain way, I love talking about the disease and explaining it to people. Like everyone else, it often happens - during a coughing fit - that people will say "the flu is strong this year"! But instead of ignoring these comments or leaving, I prefer to chat with these people and make them understand what the disease is all about. Too many people are unaware of it. If we wish to advance the defence of our rights and our interests, we must raise the awareness of our condition. One never knows what impact raising awareness can have on individuals. Perhaps one day, one of these persons will be asked to contribute to a fundraiser to help us. He/she will then think of me the girl who coughed out her lungs on the bus - and she/he will make a donation! Every small gesture makes a big difference. Has cystic fibrosis influenced the way you view life? There is always a sword of Damocles hanging over us which has a big impact on necessarily appreciating the small things in life. Often, there are activities that fascinate me, but which do not captivate other healthy people my age. There is urgency to life; I want to enjoy everything right now! At times, we reach beyond our capabilities and our means for fear of not having the time to live what we would like to. Until my twenties, I spoke a little through my hat when I thought about the little things in life. I believe I thought this way probably because this was how my parents thought. They taught me this urgency to live.
From age 20, I started to lose friends because of cystic fibrosis – very close friends. I wouldn’t say that this has changed my way of looking at life, but it has had an effect of bringing things into focus, of making things real. I no longer live the present moment, not because I learned to live this way, but rather because I understand its true meaning. I cannot imagine my life without being involved in the fight against cystic fibrosis. Either through field work or at conferences, I feel the deep need to get involved. As long as I can do this, I will! And I have also realized for some years now that both my speeches and my type of involvement are subject to change. Previously, I was very devoted to collecting funds for research, because more money for research meant that we would quickly find a cure for the disease, or at least to have a better quality of life. When I was younger, I believed that we did not need help, but a cure! But lately, I find myself faced with adult problems which I must confront myself. I am now experiencing what is under the tip of the iceberg. This is why I have great desire to get more actively involved in Living with Cystic Fibrosis and because I feel the need to help others in a more tangible way. I obviously shouldn't let go of pursuing research, but my life as an adult who daily lives the consequences of her condition is important. My workhorse was profit, money. Now, I know that there are people in this organization who can help me when I need help. Living with Cystic Fibrosis is there if I have questions. All too often, we do not understand the usefulness of something until we truly need it!
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‹ HEALTH ›
Mucociliary clearance in the airways Alphonse Jeanneret Pneumologist
Hôtel-Dieu of Montréal Centre hospitalier de l’Université de Montréal (CHUM). Montréal, Quebec Canada
When we breathe, approximately 7,200 litres of air circulate in our lungs in 24 hours. If the airway lining, which is also call the bronchial mucosa or bronchial epithelium, were not constantly moist, the bronchi would dry out very quickly, the mucosa would crack and ulcers would form. Just try breathing with your mouth open for a few minutes and see how quickly it dries out. Fortunately, we have saliva to keep our mouth moist and prevent this dehydration. Saliva is the fluid secreted by the salivary glands, the largest of which is the parotid gland. We produce saliva nonstop and swallow the excess without even noticing. What about the bronchi?
Figure 1 View of the bronchial mucosa through an optical microscope
The airways also have to remain moist at all times. This is why the bronchial mucosa is lined with a moist film, a semi-fluid barrier called bronchial mucus, which prevents the mucosa from drying out.
Bronchial mucosa
In addition to its role as a humidifier, mucus also has other major functions: it traps inhaled organic and inorganic particles, irritating gases, fine dust and germs in order to prevent these substances from reaching the alveoli and, from there, getting into the blood. However, it is not enough to neutralize these substances; the “used” mucus has to be eliminated.
Briefly, the bronchial mucosa serves three main purposes:
Like saliva, mucus is produced continuously. We produce an estimated 0.2 to 0.5 mL of bronchial mucus in 24 hours per kilogram of body weight (e.g., 30 mL in a person weighing 60 kg), so there has to be a mechanism for preventing the lungs from drowning in all that mucus. That mechanism is mucociliary transport.
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This article will explain how the bronchial mucosa is structured to carry out its many tasks and what mucus is made of to remain effective.
The bronchial mucosa is made up of many kinds of cells and submucosal structures, each contributing to proper airway function.
1. Secreting mucus; 2. Regulating mucus composition; 3. Eliminating excess “used” mucus. First, there are the cells that secrete mucus. The cartilaginous airways (from the trachea to the 16th division of the bronchi) contain the submucosal glands. As the name indicates, they are located under the bronchial mucosa, which is also called the epithelium. They secrete both the thick part of mucus and a little aqueous fluid, which are transported through a small channel, the mucous gland pore, to the surface of the mucosa. The trachea has about one pore per square millimetre.
Then there are the goblet cells or epithelial cells, which are located in the epithelium, from the trachea to the terminal bronchioles. When the goblet cells are stimulated by inhaled irritants (e.g., cigarette smoke or smog), they contract and expel their contents, thick mucus, into the bronchial lumen (Figure 2).
Figure 3  Ciliated cell viewed through an electron microscope Figure 2  Three-dimensional diagram of the structure of the bronchial mucosa with nerve supply, capillaries and bronchial smooth muscle fibres
In the very small airways, right before the alveoli, there is another type of cell that also secretes substances that are incorporated into mucus: the Clara cells. These cells also produce surfactant, an oily, soapy fluid that prevents the alveoli from collapsing every time you exhale. Lastly, there are the ciliated cells, which constitute the largest part of the bronchial epithelium, from the trachea to the terminal bronchioles (Figure 3). They perform two essential tasks for the proper functioning of the airway mucosa. First, they secrete water and salt to prevent thick mucus from sticking to the bronchial lining and to allow it to slide smoothly along. Then, through the action of the cilia on the surface of the ciliated cells, mucus is transported from the outer edges of the lungs to the pharynx and the throat, where it is swallowed or coughed up, depending on the quantity.
Composition of the cilia We will now look at the structure of the cilia. Vibratile cilia are a marvel of biological engineering and have kept virtually the same structure since the beginning of evolution, from single-cell organisms to man. They solve two motility probIems. First, in order to move, single-cell organisms require a little cilium that will drive them forward by vibrating. The tail of a sperm cell is in fact a cilium. Through its beating action, it propels the sperm up the uterus and the fallopian tubes to the ovary, where the sperm will fertilize the ovum. The second motility problem in a biological system concerns the mucus that lines the bronchial mucosa. The cilia move the mucus along. How do cilia work? Cilia are a microscopic structure, cellular appendages on the open surface of the bronchial epithelium. Thanks to electron microscopy, we have been able to elucidate the ultrastructure of the cilia (Figure 4).
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Microtubule Doublet Dynein arms Nexin link
Figure 4 Diagram of a cilium
Radial spoke Central sheath
Central Microtubule
The cilia are surrounded on their entire length by nine longitudinal microtubule pairs or doublets, which are linked to a pair of central microtubules by radial spokes to stabilize the cilia. The peripheral doublets are connected to each other by nexin links and inner- and outer-arm dyneins. The dynein arms store energy in the form of adenosine triphosphate (ATP). When the energy is released, the microtubules slide along each other, provoking a beating movement without breaking the cilia. The cilia beat 12 to 15 times per second, with a quick forward beat (1/3 of the time) and a slow backward beat (2/3 of the time). These movements are co-ordinated (like a crowd wave in a stadium) and always go in the same direction.
For the cilia to be effective in moving mucus, the mucus layer has to be properly organized. The mucus layer is biphasic, with a sol phase and a gel phase. The top layer is thick and sticky (the mucus itself or gel layer) and has the properties of molasses. If the cilia were plunged into this molasses, they would not be able to beat; they would be all gummed up and stuck together! In order to beat effectively, the cilia have to be in an aqueous liquid, which is the other mucus layer, the serous phase called the sol layer (Figure 7).
Figure 7 Diagram of cilia interacting with mucus (sol layer – gel layer)
When fully extended, the cilia touch the lower edge of the gel layer and push it towards the larynx, as can be seen in Figure 8, a photograph enlarged 28,000 times!
There are approximately 250 cilia per cell, 6 to 7 microns long and 0.3 micron wide (Figures 5 and 6).
Figures 5 and 6 Longitudinal section of the cilia viewed through an electron microscope and also showing the basal body rooting the cilia to the cell
Figure 5: Longitudinal section of the cilia viewed through an electron microscope and also showing the basal body rooting the cilia to the cell
Mucus
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Figure 8 Electron micrograph showing the tip of the fully extended cilia touching the gel layer during the beat cycle
To sum up, the bronchial epithelium needs the very precise co-ordination of all its components to do its job. The submucosal glands and the goblet cells secrete just enough mucus to form a gel layer that is neither too thick nor too abundant, and the ciliated cells secrete just the right quantity of the aqueous sol layer to be able to soak in it up to their maximum length. The cilia constitute a conveyor belt transporting mucus to the pharynx. If the sol layer were any higher, the cilia would be beating in a void, that is, they would not reach the gel layer and the mucus would not be transported. Conversely, if the sol layer were too thin or absent, the cilia would not be able to move and, again, the mucus would not be transported. Cilia dysfunction There are two diseases in which cilia function is compromised. The first is immotile ciliary syndrome or ciliary dyskinesia. This is a genetic disease attributable to a defect in the structure of the cilia. It can be caused by the absence of radial spokes or the central doublet, which results in a breakdown of the cilia, completely disabling them. There are forms of dyskinesia in which the dynein arms are absent. In this case, the cilia cannot bend, so they remain immotile. Consequently, the mucus is not moved towards the larynx, but stays in place and clogs the bronchioles, which become infected. Eventually, the infection destroys the airways and results in bronchiectasis. The best-known disease attributable to immotile ciliary syndrome is Kartagener syndrome associated with situs inversus, that is, the heart is on the right and the liver is on the left.
since the chloride faucet is absent or non-functional in persons with cystic fibrosis, the chloride and the water remain inside the ciliated cells. The concentration of sodium (Na) that is secreted normally is therefore too high in the aqueous solution of the sol layer of the mucus, causing an electrolyte imbalance on both sides of the ciliated cell membrane. To rebalance the salt concentrations, the sodium (Na) is reabsorbed with the water; consequently, the sol layer in which the cilia should be bathing is greatly reduced and may even disappear completely. The gel layer of the mucus therefore crushes the cilia, gluing them together and preventing them from beating. Since the gel layer is already more viscous than usual in persons with cystic fibrosis, the cilia’s inability to beat aggravates the stasis of the mucus, producing all the well-known consequences of stagnant mucus: bacterial colonization, infection, inflammation and erosion of the bronchioles and surrounding alveoli, bronchiectasis and, ultimately, destruction of the lungs. To slow down this progress, it is important to do everything you can to facilitate the evacuation of stagnant mucus: chest physiotherapy, clapping, physical activity, PEP mask, FlutterTM, mucolytic drugs (PulmozymeTM, hypertonic saline solutions), aerosol antibiotics to reduce infection and inflammation, etc. All these measures require a lot of time and energy, but they are worth it, as evidenced in the improved quality of life and increased longevity of cystic fibrosis patients.
The other major disease in which cilia action is compromised is cystic fibrosis. In persons with this disease, the chloride channel does not work. The chloride and sodium channels act as tiny faucets that let salt (NaCl) and water in and out. However,
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‚ nutrition ›
Nutrition Rules
for Cystic Fibrosis Sufferers
Dr. Karleen De Rijcke Executive director, Association belge de lutte contre la mucoviscidose Brussels, Belgium
Research shows that good nutritional condition leads to better lung performance and greater resistance to respiratory infections. Proper diet also helps build up reserves that can be drawn on in case of infection or weight loss. Food is the fuel drives us The human organism needs energy to function, whether that means running, learning, growing, breathing or fighting disease. We get this energy from good. As you know, digestion is less than optimal in people with cystic fibrosis. This is why they struggle to get enough energy from the food they eat, even when taking pancreatic enzymes. They also need more energy than other people because of the need to fight off pulmonary infections, and because breathing is more physically demanding for them. The energy supplied by food is expressed in kilocalories (kcal). It is especially important for people with cystic fibrosis to get enough of these kilocalories. Children and young adults with cystic fibrosis need to eat and drink higher-calorie food and beverages than other people their age in order to grow up as healthy as possible. Individuals’ energy needs depend on different factors: how well their pancreas is working, age, sex, height, weight, state of health, activities and pulmonary function. Needless to say, after spending all morning outside, a child will be hungrier than if he spends a whole day inside watching TV or reading a book. A dietician at your clinic can calculate the extra energy needed by a child or adult with cystic fibrosis.
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If weight and height are developing normally, there is nothing to worry about For CF patients, the focus is usually on eating properly, and for good reason. But this does not automatically mean that diet is a problem for people with cystic fibrosis! Weight and height are assessed based on a growth curve. During each appointment at a cystic fibrosis clinic, height and weight are measured and written along this curve. For children, the measure is often expressed in centiles, with the average goal being to achieve the 50th percentile: this means that 50% of children of the same age are heavier or taller and 50% of children are lighter or shorter. For adults, the measure in use is the BMI or Body Mass Index, which is a function of height and weight. Doctors and dieticians examine growth on the curve together with patients and their families. Depending on the results, you may need to re-evaluate energy needs. If weight and height are fine, diet is not something you need to worry about! However, if weight and height are not progressing normally, it is important to consult your medical team and consider the possibility of changing your diet. In searching for solutions, it can also be helpful to reflect on whether other elements might be playing a role. The recommended diet: rich, varied and delicious Lipids are the nutrients that contain the most energy, which makes them especially important for people suffering from cystic fibrosis. They contain 9 kcal per gram and are the number one source of essential fatty acids and lipid-soluble vitamins.
Carbohydrates include all the sugars and starches we eat. These are essential energy sources for the body and yield 4 kcal per gram. Starch-rich foods such as brown bread and potatoes are preferable to sugars owing to their greater vitamin, mineral and fiber content. Too much sugar can also lower appetite. Proteins are the building blocks of the human body. Our skin, muscles and heart are all made up of proteins. Accordingly, we need proteins to grow. Like carbohydrates, proteins yield 4 kcal per gram. Salt likewise plays an important role in cystic fibrosis suffers, who tend to have a great deal of trouble retaining this mineral. It is important to offset this loss by eating enough salt-rich foods. Fiber is another important part of a healthy diet, especially given its benefits for the large intestines and its role in preventing blockages. Fruits, vegetables, brown and whole wheat bread, and potatoes are all important. Peelings, in particular, are an excellent source of fiber. A varied menu Of course, our food should be more than just energyrich (and tasty)! It should also contain a whole series of nutrients. Your body needs a little bit of everything in order to function properly. Each day should bring its share of variety. If you eat fries every day, you are probably storing up enough energy, but not enough vitamins, minerals and antioxidants. This is why, each day, you should also eat various milk products or meat, chicken, eggs and fish. In addition to proteins, dairy products and eggs provide lipid-soluble fats. Fatty fish gives a large amount of energy as well as the essential fatty acids we need. Over and beyond lipids and proteins, meat provides iron and vitamin B12. Fruits and vegetables contain little energy but are rich in the vitamins, minerals and fiber needed by the human body.
Although drinking enough water is important for everyone, it is especially important for cystic fibrosis sufferers, who tend to experience significant water loss in their mucus, perspiration and stool. Eating protein-rich but low-water-content foods can also cause kidney problems in cystic fibrosis patients. More water helps facilitate mucus elimination and lowers the risks of intestinal blockage (constipation). In the event of high temperatures, sustained physical exertion, fever, vomiting, diarrhea and constipation, drinking more water becomes crucial. Water, fruit juice, vegetable soup, and broth are all good sources of water. Whole milk is an outstanding beverage that is chock-full of fats and vitamins. Soda such as cola and lemonade (preferably not before or after meals) can also be helpful, to a point. However, soda also has high sugar content and lowers appetite, to the detriment of other essential nutrients. Too much cola can also cause decalcification. Finally, note that digestive enzymes are unnecessary for water, fruit juice and soda, but they should be taken for any beverage that contains fats. Vitamins Cystic fibrosis makes it hard to digest fats, along with lipid-soluble vitamins A, D, E and K. This is why vitamin supplements are prescribed to cystic fibrosis patients. It has long been known that vitamin D plays a key role in bone formation. Given that cystic fibrosis patients have a greater risk of conditions such as osteoporosis, it is especially important for them to get enough vitamin D. Studies have also shown that the risks of getting a cold or flu are lower when taking this vitamin. Moreover, studies have recently shown that vitamin D alleviates the problem of inflammation. For all these reasons, cystic fibrosis patients need a sufficient amount of vitamin D. In fact, new American guidelines suggest that vitamin levels are often too low and should be tested at the end of every winter. Certain vitamin preparations can be taken to get enough vitamin D. Sunlight also provides an important
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vitamin D boost. Like vitamin D, vitamin K is very important for skeletal health, but it is even better known for its role in blood coagulation. A vitamin K deficiency can lead to bleeding in the airways. Along with vitamins A, D and E, vitamin K is an important ingredient in vitamin preparations prescribed for cystic fibrosis. Balanced diet and nutritional supplements If, in spite of a particularly rich and diverse diet and the use of pancreatic enzymes, your nutritional condition could be better, supplements are sometimes advisable. Some ready-to-drink, high-calorie beverages can provide up to 400 kcal per bottle. Another option is to buy milkshake mixes that come in powder packets (to be diluted in whole milk) containing up to 600kcal per portion. Some children and young adult sufferers of cystic fibrosis prefer dairy drinks, others fruit-based rinks. Small beverages that can be found in big-box stores, as well as some fruit-flavoured cheeses and some puddings, contain just as much
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and sometimes even more calories. The amount of kilocalories is generally given on the packaging. You can also make prepare own small energy drinks (ask your dietician for more information). Digestive enzymes need to be taken with all nutritional supplements, even fruit-based. Caution: these small beverages can round out your diet, but they should not replace regular meals. If you notice that you or your child are eating fewer meals, these supplements are not recommended! Studies show that food supplements mainly have a positive effect in certain specific cases, such as during acute illness, periods when the patient needs to gain back strength, or times when food-related habits become stressful and difficult for the family bear. In the event that your regular diet and food supplements are not providing the energy you need, or if for any reason you need more energy, a night feeding tube (inserted directly into the stomach) can be used.
‹ psychology ›
Learning by Risking
Kylie McGirr Cystic Fibrosis Victoria Melbourne, Australia
Adolescence is a key developmental period characterized by significant changes in emotions, behaviours and interpersonal relationships. This is also a time when health risking behaviours, such as smoking, alcohol use and substance abuse are commonly initiated. These behaviours are generally true of adolescents considered to be in ”good health”. Hence, when it comes to cystic fibrosis, it may even be more important to be aware of the challenges facing adolescents, and the types of risk-taking behaviours they may be involved in and which impact negatively on their health. Growing up with CF is still growing up, and learning about and living with risk is part of growing up for adolescents and parents alike. Young adulthood is a crucial time for the establishment of psychological well-being into adult life. Decisions and transitions made at this time can have consequences that persist throughout adult life and transitions in one domain can affect progress in others. The high rate of major life changes for emerging adults can be directly responsible for poor mental health. There are also some developmental theorists who argue that major life changes—including risk taking—are both normative and socially desirable during this time of development. Therefore, it is a fine line between a decision which may pose a potentially serious risk and what may simply be an experience that equips a person with skills and knowledge to successfully navigate their way through life. Risk-taking in the post-modern society confronts adolescents in many ways—through new lifestyles, challenges and peer choices. In many ways, emerging adults are navigating new waters because the challenges faced by young people today were not posed for their parents and grandparents. Another challenge is the “normality” that appears around some risk-taking behaviours. In a study conducted by the University of Tasmania, for example, there were types of risk-taking (such as underage drinking of alcohol and smoking cigarettes) that
were considered by “mainstream” teenagers to be ”normal” and “widespread”. It should be noted that the same study rated about 30% of the teenage participants as “high” or “very high” risk-takers. With about 1 in 3 teenagers being “high” risk takers, it would not be uncommon for a young person to be interacting with one of them on a regular basis—if they themselves are not one of them! Digging deeper into another study, risk taking in adolescence was viewed as the need for varied, novel, and complex sensations and experiences, and the willingness to take physical and social risks for the sake of such experiences. The “failure of probability reasoning” was given as a possible explanation for the high risk-taking tendencies whereby adolescents distort the perceived risk of a given behaviour in their favour. This distortion, and therefore the risk-taking behaviour, may be the result of adolescents reaching biological maturity prior to reaching social maturity. It is not surprising that adolescence and early adulthood are the times of life where the pre-frontal cortex of the human brain is developing its full potential—the ability to gauge and deal with consequences. At the University of Melbourne, risky behaviours in adolescents were explored in relation to gambling. In a group of Year 8 students, it was found that 41% had gambled in some form or another over a 12 month period. Without question, the most influential sociodemographic variable associated with gambling participation in adolescence was the male gender—with males more likely to have more positive attitudes towards gambling. The most regular motivations for gambling among adolescents were listed as excitement, enjoyment and winning money. Other reasons included relaxation, escaping from problems and alleviating depression. One common explanation for the association between higher levels of gambling behaviour among adolescents is part of adolescent experimentation with adult behaviours—done with peers with similar motivation and interests. SVB 2015 21
Gender differences may indicate some risk-taking behaviours are more common and frequent among males. Researchers have nonetheless been observing increasing levels of risk taking in females. Because of the decreasing gap in gender roles, as well as the impact of globalization and individualization, young women are taking more risks—and particularly more risks than their mothers did. The increasing competitiveness among young women in education, employment and social exposure in public spaces have all contributed to the greater incidence of impulsive behaviours in young women, and so a narrowing of gender difference in risk-taking behaviours. The risks associated with smoking are now common knowledge and this includes warning on every pack of cigarettes. In spite of this, young people continue to take up the habit of smoking or at least experiment with it. In many cases, it is peer group pressure or simply a feeling of wanting to belong or taking a risk (i.e., breaking a rule) that may play a role in the decision to smoke. The Australian National University found that for males, the best predictor that he would become a smoker was that he had a male best friend who was also a smoker. For females, the key predictor was whether at least one parent was a smoker—highlighting the unspoken messages that some adolescents receive about health behaviours. Health risks can also come in the form of disordered eating habits, in extreme cases resulting in conditions such as bulimia. Researchers at Deakin University recently found that disordered eating was linked to negative affect (the feeling of negative emotions) among adolescents of both genders. High levels of body dissatisfaction were also found to be an important predictor for many. The study included an observation of adolescents who were overweight, compared to those who were within a normal weight range. While it was clear that overweight adolescents needed to adopt strategies to obtain a healthy body
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weight, the study found that adolescents with higher levels of negative affect were more likely to develop risky strategies that would negatively impact on their health. There is considerable literature on the subject of body image and CF, particular relating to young females. Personality factors can play a part in decision making and risk evaluation. It has been found that young people who tend to be more impulsive, meaning those who have a lesser ability to regulate self control, are more likely to engage in risk-taking behaviours than those with low levels of impulsivity. In order to navigate through life successfully and deal with stress adequately, individuals must learn to address problems effectively. While an individual’s ability to deal with problems is influenced largely by individual characteristics, such as life experience and personality, much can be done to maximize coping abilities. To deal adaptively with the physical, intellectual and social changes required in early adolescence, a positive state of emotional well-being is deemed necessary. The task for adolescents as they navigate their way through life is not an easy one. Nor is it an easy task for parents to guide their teenagers along the fine line between what helps someone stay on the right path and what may send them conflicting messages. One Australian study found that some parents, for example, were found to be complicit in their child’s underage drinking believing they could “protect” their child from excessive drinking by providing them with a small amount of alcohol, transporting them to and from parties and/or providing them with a mobile phone. These actions, while well-intended, could also be viewed as giving implicit consent, and can result in conflicting messages in attempts to help teenagers develop social competencies in managing risky behaviours.
The challenging task, for both parents and education and health programs, may lie in assisting young people to negotiate appropriate, responsible and achievable pathways through the many choices on offer in postmodern society. It has been suggested that this will encourage young people to develop the necessary social competencies, and differentiate between «good» and «bad» risks. As mentioned earlier, times change and the challenges faced by the adolescents today are in so many ways different from the challenges their parents had to face. An understanding of the current challenges that adolescents must take on, both from adolescents themselves as well as from the current world around them, is important in navigating changing times and those very challenges. Ongoing and open channels of “judgement” free up communication. Problems with accepting the disease are common in individuals suffering from cystic fibrosis. In order to provide CF people suffering from psychological distress with quick and free access to psychological services, the Fondation l’air d’aller offers Quebec’s cystic fibrosis community a free counselling program. Applications are processed confidentially. For more information, please visit the Fondation’s website.
References Abbott-Chapman, J. Denholm, C. & Wyld, C. (2008), Gender Differences in Adolescent Risk Taking: Are They Diminishing? An Australian Intergenerational Study. Youth and Society, 40, 131-154. Carroll, A. Hemingway, F., Bower, J., Ashman, A. Stephen, H. & Durkin, K. (2006). Impulsivity in Juvenile Delinquency: Differences Among Early-Onset, Late-Onset, and Non-Offenders. Journal of Youth and Adolescence, 35, 519-529. Frydenberg, E., Care E., Freeman, E. & Chan, C. (2009). Interrelationships Between Coping, School Connectedness and Wellbeing. Australian Journal of Education, 53, 261-276. Jackson, A. Dowling, N., Thomas, S. , Bond, L. & Patton, G. (2008). Adolescent Gambling Behaviour and Attitudes: A Prevalence Study and Correlates in an Australian Population. International Journal of Mental Health Addition, 6, 325-352. Lee, C. & Gramotnev, H. (2007). Life Transitions and Mental Health in a National Cohort of Young Australian Women. Developmental Psychology, 43, 877-888. Mazanov, J. & Byrne, D. (2008). Modeling Change in Adolescence Smoking Behaviour: Stability of Predictors Across Analytic Models. British Journal of Health Psychology, 13, 361-379. McCabe, M. & Ricciardelli, L. (2009). Extreme Weight Change Behaviours: Are Overweight and Normal Weight Adolescents Different, and Does this Vary Over Time? European Eating Disorders Review, 17, 301-314. Patton, G., Bond, L., Carlin, J. Thomas, L., Butler, H. Glover, S. Catalano, R . & Bowes, G. (2006). Promoting Social Inclusion in Schools: A group-Randomized Trial of Effects on Student Health Risk Behaviour and Well-Being. American Journal of Public Health, 96, 1582-1587.
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‹ psychology ›
A Footprint in Time Marilyne Petit author, speaker and professional coach Québec, Quebec Canada
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Have you ever wished you had more time? I know I sure have. We all want more time in our day, our weekend or our vacation. Are you constantly chasing after time? Do you feel like it keeps slipping between your fingers like sand? I have a special relationship to time because it has touched my life in a special way. There was a time when I was afraid I didn’t have enough, or indeed any at all. Sometimes, it also seemed to me that time was dragging by at an eternally slow pace.
straight to my heart. I watched as my son went on to enjoy his spare ribs as if they were his last, and I couldn’t help but relish the meal as if it might be our last meal together. That night at the restaurant, we were surrounded by partying restaurant-goers who probably did not realize the importance of the present moment and the value of time. And they certainly had no idea that they were sitting next to a little boy whose time might be coming to an end!
However, I also have the privilege of sharing my life with a “grandmaster” of time and the present moment—my 14-year-old son, Pier-Olivier. On December 8, 2010, the day before his third heart operation, he turned to me and said, with the spontaneity of a child, “You know, Mom, this might be my last night. Maybe tomorrow I won’t wake up after the surgery.” And then he added, “But you know what? If I don’t wake up… well, at least I can say have had one heck of a great life, and I want to thank you for it, Mom.”
As he waited for his surgery, Pier-Olivier lived his life with a profound awareness of everything that was important to him. He said to his brothers, “Hey, let’s play, because soon, we might not be able to play together anymore.” I probably don’t have to tell you that each moment I spent with my son became infinitely valuable. I also probably don’t have to tell you just how much we savoured each of these little moments… each one became a real gift! Do you, too, have little moments like these, the kind of moment that you hope you’ll be able to enjoy again tomorrow?
My son, 10 years old at the time, was completely aware of the risks of the surgery; he knew that he might be at the end of his life, and so did I. The weeks before this big operation, he started making us appreciate each moment as if it might be his last. I remember one night out at the restaurant, for example, when he said to me, “You know Mom, this might be the last time I come to eat here.” This went
In the words of Confucious, “We all have two lives. The second one begins the day you realize you only have one.” How very true! When you don’t know how much time you have left, when you think you might be at the end, you really experience time as a gift you hold in your hands. Almost magically, you find that your values, desires and priorities come into alignment. And that’s when you exercise the only
power you have over your situation—the decision of what to do with your time. That is exactly what I wanted to do: to keep this precious time for what really mattered to me. When Pier-Olivier was born, my husband and I decided that I would stay home to care for our son. He had a 50% chance of survival. I made the decision to devote my time to him. I quit my job, left behind my career, and gave myself the most beautiful mission in the world: to be truly present for my son and to make sure he had beautiful days, in case they were his last. I wanted him to live a beautiful life in spite of his health problems. Spending this time with him, through the ups and downs of his illness, I experienced the greatest transformation of my life. I developed a profound drive to be happy! Life has been good to us. Pier-Olivier is now 14 years old and his health is stable. His illness is still present and serves as a daily reminder of the fragility of life, but also of the fact that it is so worthwhile to live and to take the time to live. Are you doing all you can to live your life to the fullest? What would you do differently if you knew you might not be around tomorrow? The day before Pier-Olivier’s surgery, when he thanked me for this beautiful life, all I could do was renew my mission to be there for him. And in doing so, I also made another commitment deep down: to leave a footprint in people’s lives by sharing our story and what we’ve learned. I wanted the people I came across to want to live their lives to the fullest. I wanted to leave something positive in their lives.
Each of us is born in order to follow a specific course, not in order to arrive at any specific destination but rather to live through a series of experiences for which we are destined. Whether we want to or not, we will all leave a footprint here on Earth. The desire for immortality and the fear of being forgotten are often driving forces for doing great things and for distinguishing ourselves by leaving behind a footprint, a name that will be remembered. The more useful and beautiful the footprint, the longer it will last. But what kind of footprint will we leave behind? Whether we’re famous or unknown, whether we’ve done great things or little things, at the end of our lives, people will not talk about our achievements, but about what kind of person we were! They will remember our qualities, our kindness, our respect for people, our considerate words and actions, the way we lived our lives, and simply how we “were.” How about you? How are you living your life? Have you thought about what people will remember when they think of you? What legacy are you preparing to leave behind? I am not talking about a financial inheritance, but about leaving a “positive footprint”! Leaving a positive footprint every day through our presence and actions When you think about it, in this life we all leave a footprint—whether positive or negative—in the lives of each and every person we meet. The magic of your smile and your kindness can make a huge difference in the life of someone you meet on your path. And conversely, a nasty or uncaring attitude
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can leave someone with a sour taste in their mouth. Never let anyone come across you without giving them something, whether it be a balm for a broken heart, a piece of advice, an idea, a boost of motivation, a smile, or some other ray of sunshine! Will you work this magic for someone today? Or perhaps today you’ll meet someone magical yourself? Sooner or later, we are all touched by one of these “magicians.” It’s in the little things, our tender words and actions, that we use our power to illuminate people’s lives. Fostering this magic in our relationships is one of the great ways to help make the world a better place and to leave a positive footprint for humanity. May your magic be contagious!
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The art of leaving behind a positive footprint— the most beautiful legacy! In my opinion, the most beautiful legacy we can leave behind is to live this life that is given to us to the fullest, without any regrets! We must listen to our hearts and ask ourselves, before going off to sleep each night, “Is the way I’m living my life putting me on the path to regret or the path to fulfillment?” Listening to your heart means staying faithful to the life you’ve chosen and the person you want to be. It means living out your passions and fulfilling your life mission while inspiring others to do the same. It means shining with happiness—after all, isn’t that the best way to encourage others to follow in our footsteps?
‹ historY ›
Cystic fibrosis: a 34,000-year history
Richard Leboeuf-McGregor Based on an article: Mucoviscidose. (November 2, 2014). Wikipedia, the free encyclopedia. Montréal, Quebec Canada
The origins of cystic fibrosis go back a very long time. Several researchers have attempted to discover when the main mutations causing the disease appeared, inter alia through genetic analysis of the various populations involved. In 2001, a study estimated the age of ∆F508, which is the most common mutation, between 11,000 and 34,000 years while another estimated that the appearance of the latter could even be earlier than the emergence of modern man. The other mutations found in cystic fibrosis are slightly more recent 1. Cystic fibrosis, which was described scientifically for the first time as a full disease in 1936, has been observed for a long time, at least in what relates to its effects and manifestations. In 1595, an autopsy performed by botanist Pieter Pauw described an 11 year-old girl suffering from rickets that apparently was deemed a witch by her entourage and had an enlarged, hard and white pancreas. Then, in 1606, Spanish doctor - Alonso Ruyzes de Fonteca - reported that fingers passed over the forehead of bewitched children had a salty taste 5. These were the first official signs describing the appearance of the disease, although it was not yet known at the time that it was a disease. It was rather associated with witches and the devil. In fact, in the middle ages, the disastrous fate of a newborn child was predicted when the mother noticed a "salty kiss", i.e. the salty taste left by a kiss on the forehead of the child 2, 3, 4. An old proverb from Northern Europe was sadly widespread: "Woe to the child whose kiss on the forehead tastes salty. He is bewitched and must die soon.” It was only at the beginning of the 20th century when the first real scientific observations appeared: in 1912. A researcher described that he had observed families with several children who presented fatty diarrhea and who died of a lung infection.
Descriptions at the time focussed more on digestive problems and pancreatic disorders. Doctors and researchers concluded that it was a form of celiac disease even if bronchial-pulmonary problems were also recorded and observed 6, 7, 8, 9. Cystic Fibrosis would then be regarded as a true disease in 1938 by American pediatrician Dorothy Andersen, physician at the Children's Hospital of New York, which then published an article entitled "Pancreatic Cystic Fibrosis and its Relationship with Celiac Disease" 6. By performing autopsies on infants, she discovered the clinical features of the disease, including neonatal intestinal obstruction, respiratory and digestive complications as well as specific histologic lesions of the pancreas. She linked the disease to an A vitamin 10 deficiency and persisted in supporting this theory 11, 12 for many years. Although she was wrong about the causes of the disease, we now know that people affected with the disease have digestive systems that do not effectively absorb some essential nutrients, such as vitamins A, D, E and K. Food alone does not provide adequate intake of vitamins to meet basic needs, and taking vitamin supplements is often prescribed. One of the problems with the disease is insufficient secretion of certain pancreatic enzymes, which are necessary for good digestion. This situation is detrimental to the absorption of fats, carbohydrates and proteins by the body of affected people. This is why, for several decades now, people with CF almost all use enzyme supplements during their meals 13. In the summer of 1948, a heat wave struck the northern United States. This then caused hospitalisation of several children who suffered from dehydration and who were in a state of advanced lethargy. A doctor from the New York General Hospital, Dr. Paul di Sant' Agnesse, decided to compare the composition of the sweat of these children. In 1953, he discovered and explained the electrolytic 14, 15 anomalies in SVB 2015 27
the sweat of the sick, which then permitted a specific diagnostic test for the disease - the sweat test. At that time, the diagnosis could only be done faced with a combination of clinical signs and symptoms which suggested intestinal malabsorption and pancreatic insufficiency. Then, a technique was developed in which children were fully wrapped in bandages to stimulate sweating. The sweat test became the main test to clearly establish the diagnosis. In the 1950s, the fate of affected children was still regarded as hopeless, but a few centres specialized in the management of cystic fibrosis were founded in the United States and in the United Kingdom. Postural drainage was one of the traditional treatments that then became the norm. In 1955, a support method that laid the foundations of modern treatment was described: early diagnosis and active treatment of early pulmonary infections and monitoring and maintenance of the nutritional condition 16. During this decade, new antibiotics appeared. While Staphylococcus aureus was the bacteria primarily found, there was an increase in the frequency of Pseudomonas aeruginosa, attributed to extended antibiotic treatment 17. On the other hand, the benefit of aggressive antibiotic treatments became progressively evident 18. In Canada, it was only in 1969 that first clinic specifically dedicated to cystic fibrosis appeared. This clinic was founded in Québec, at the Montreal Royal Edward Hospital, which later became the Montreal Chest Institute. It's now the oldest CF clinic in the country. During the 1970s, the role of the Burkholderia cepacia pathogen was described. Due to its danger and easy contagion, radical changes in clinical practice and the social habits of patients took place 19. The severity of infection by P.aeruginosa and prognosis were therefore linked 20. Progress was significant; the foresight of physicians regarding the handling of the disease gradually changed. In 1989, the discovery of the defective gene for cystic fibrosis by Lap-Chee Tsui and John R. Iordan from the Hospital for Sick Children in Toronto, led to current knowledge and treatment of the disease.
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The progression was of major importance: the genetic abnormality at the origin of the disease was finally discovered. This discovery later added genotyping to the diagnostic protocol including gene therapy. This is also the most promising treatment that we have today. At the North American Congress on Cystic Fibrosis held in 2014 in Atlanta, researchers announced that it was now possible to correct the defective gene. Although much research must still be performed, treatment that could be administered to people affected by CF who present with some specific mutations was considerable progress. This was Ivacafto, which allows an increased amount of chloride to be transported in the cells. By 2015, estimates show that about 130 Canadians patient mutations can be corrected by this medicine. Although there are no remedies to fully cure cystic fibrosis yet, effective treatment methods are available. Currently, more and more young people reach adulthood without having suffered too much damage to the lungs. The discovery of the gene responsible for cystic fibrosis in 1989 also promised more advanced treatment methods. With the discovery of this gene, researchers can trace the links between the cause of the disease and all its signs and symptoms. Muco-viscidosis or cystic fibrosis? In 1938, following the observation of his young patients, Dorothy Andersen used the term Cystic fibrosis of the pancreas. She noted that patients developed a cyst on the pancreas. At the time, and during the ensuing years, specialists did not make a direct link with disease. It would only be many years later that the link was established with other problems, such as those affecting the respiratory system. It was in 1943 that the term muco-viscidosis, created from the words "mucus" and "viscous", would be used by Dr. Sydney Farber 21, an American physician, to correct the name used by Dorothy Andersen which only focused on an organ - the pancreas. Farber was thus convinced that the disease was rather a result of diffusion of thick and viscous mucous into several organs of the body: the term muco-viscidosis spread rapidly throughout the world - especially in Europe. In the United States and English Canada, the term cystic fibrosis is still used, while in Québec the initial term is more prevalent - cystic fibrosis of the pancreas.
Significant dates 1960
2014
Creation of the Canadian Cystic Fibrosis Foundation now known as Cystic fibrosis Canada. The Foundation would then become one of the three main organizations worldwide with a primary objective to cure the disease, mainly by funding research. In 1981, parents created the Association Québécoise de la Fibrose kystique (Fibrose kystique Québec), which later became a division of Cystic Fibrosis Canada.
Thanks to the progress of research, the median age of CF in Québec and Canada is now 50 years.
2012
In Canada, more than half of sufferers exceeded adulthood: nearly 4,000 people suffer from the disease.
1938
CF – for the first time – was recognized as a full disease.
1900
1950
2000
1975
Life expectancy is 22 years.
1989 1985
Creation of the Adult cystic fibrosis committee of Quebec (ACFCQ). Even today, this is the only organization in Québec dedicated exclusively to the defence and promotion of the rights of people with CF.
Researchers were able to identify the gene responsible for the disease.
References 1. American Lung Association. Racial/Ethnic Differences. Repéré à http://www.lungusa.org. 2. Emmanuelle Girodon-Boulandet,Catherine Costa, « Génétique de la mucoviscidose », Médecine thérapeutique / Pédiatrie, vol. 8, no 3, mai-juin 2005, p. 126-34 3. Scotet V, Duguépéroux I, Saliou P, Rault G, Roussey M, Audrézet MP, Férec C.« Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France » 4. Dr Thierry Bienvenu Fiche « Absence congénitale bilatérale des canaux déférents » Repéré à http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=FR&Expert=48 5. Alonso y de los Ruyzes de Fonteca, J. Diez Previlegios para Mgeres Preñadas. Henares, Spain: Alcalá de Henares, 1606, p. 212 6. Andersen DH, Cystic fibrosis of the pancreas and its relation to celiac disease: a clinical and pathological study. Am J Dis Child 1938; 56:344-399 7. Blackfan, K. D., and C. D. May. Inspissation of secretion, dilatations of the ducts and acini, atrophy and fibrosis of the pancreas in infants. J. Pediatr. 13: 627-634, 1938. 8. Harper, M. H.. Congenital steatorrhoea due to pancreatic defect. Arch. Dis. Child. 13: 45-56, 1938. Résumé [archive] 9. Fanconi G, Uehlinger E, Knauer C, « Das coeliakiesyndrom bei angeborener zysticher pankreasfibromatose und bronchiektasien » Wien Med Wschr 1936; 86:753-756. 10. Andersen DH. Cystic fibrosis of the pancreas, vitamin A deficiency and bronchiectasis. J Pediatr 1939; 15:763-771. 11. Andersen, Dorothy H. The Present Diagnosis and Therapy of Cystic Fibrosis of the Pancreas. Proc R Soc Med. 1949 Jan;42(1):25–32 12. Andersen DH. Therapy and prognosis of fibrocystic disease of the pancreas. Pediatrics 1949; 3: 406-417 13. Brunet. (2014). Les traitements de la fibrose kystique. Repéré à http://www.brunet.ca/fr/conseils/les-traitements-de-la-fibrose-kystique.html 14. Darling RC, diSant'Agnese PA, Perera GA, Andersen DH. Electrolyte abnormalities of the sweat in fibrocystic disease of the pancreas. A J Med Sci 1953; 225:67-70 15. Di Sant' Agnese PA, Darling RC, Perera GA, et al. Abnormal electrolyte composition of sweat in cystic fibrosis of the pancreas: clinical implications and relationship to the disease. Pediatrics 1953; 12:549–563 16. Jim Littlewood, « The history of the development of cystic fibrosis care. Perspective of a general paediatrician at a provincial teaching hospital. » [archive], surhttp://www.cysticfibrosismedicine.com [archive], The UK CFTrust, London, UK, 2002 17. Poncher, H Editor. Year Book of Pediatrics, 1951 18. Stoppelman MRH, Shwachman H. Effect of antibiotic therapy on mucoviscidosis: bacteriologic study. New Eng J Med 1954; 251:759-763. 19. Govan JR, Brown PH, Maddison J, Doherty CJ, Nelson JW, Dodd M, et al. Evidence for transmission of Pseudomonas cepacia by social contact in cystic fibrosis. Lancet 1993; 342:15-19 20. Hoiby N. Antibodies against Pseudomonas aeruginosa in serum from normal persons and patients colonised with mucoid or non-mucoid P. aeruginosa: results obtained by crossed immunoelectrophoresis. Acta Pathol Microbiol Immunol Scand 1977; 85:142-148 21. Farber S. Pancreatic insufficiency and the celiac syndrome. N Engl J Med 1943; 229:653-682
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‹ research ›
Cystic fibrosis
research in 2014 Dr. André Cantin Pneumologist Full Professor
Pneumology Sherbrooke University Hospital Centre Sherbrooke, Quebec Canada
Cystic fibrosis is a hereditary disease that primarily affects mucus-producing organs. The main tissues impacted are the airways, sinuses, pancreas, intestines, bile ducts of the liver, and, in men, the vas deferens duct. The leading cause of morbidity and premature death in cystic fibrosis patients is lung problems resulting from acute and chronic airway infections. Cystic fibrosis is caused by the absence of a protein function known as cystic fibrosis transmembrane conductance regulator or CFTR. The CFTR function is absent when an individual inherits two mutations in the CFTR gene, i.e., one from each parent. This year marks the 25th anniversary of the discovery of the gene that causes cystic fibrosis. At the North American Cystic Fibrosis Conference in Atlanta, Georgia in October 2014, researchers provided an overview of the related progress made over the past 25 years, as well as of the challenges to be addressed before we can treat the illness effectively. Following the discovery of this defective gene, researchers identified five broad classes of CFTR protein defects (Figure 1), allowing them to focus their
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research depending on individuals’ specific defect. Their first major victory, reported two years ago, had to do with the class III CFTR defect. This defect ensures that the CFTR protein will be normally structured and properly incorporated into the membranes of the cells lining the mucus membranes. However, as a result of this class III mutation, the CFTR is unable to open up to let chloride and bicarbonate through. The absence of chloride secretion produces a deficiency in the salt content of mucus secretions, making mucus much too thick. A new medication called ivacaftor (brand name Kalydeco®) was released by the company Vertex. This medication restores the normal function of class III CFTR mutations. Patients with class III mutations on one of their two CFTR genes see a very clear improvement in their respiratory and digestive health. In addition, studies presented at the same conference confirmed substantial improvement in these individuals’ quality of life. Researchers have observed that ivacaftor is efficient for all class III mutations and can also be efficient, to some degree, for class IV mutations such as R117H. Although these mutations are found in
Figure 1 This figure illustrates different classes of proteins resulting from mutations in the CFTR gene. Although there are more than 2,000 different mutations in the CFTR gene, the consequences for the CFTR protein can be grouped into five categories. Clinical manifestations of cystic fibrosis are most pronounced for defects in classes I, II and III. The presence of a part of CFTR function in classes IV and V often protects individuals from certain more severe manifestations of cystic fibrosis. The medication used for each defect is given in parentheses. Class I: absence of protein synthesis because of a signal to prematurely stop transcription of the DNA code. Ataluren® enables reading of the defective code and synthesis of the full CFTR. Class II: the CFTR is produced, but its abnormal structure labels the protein as defective and degraded in the proteasome (“junk”). VX-809 and VX-661 facilitate its delivery to the membrane. Class III: CFTR has a normal structure and is integrated normally into the cell membrane but remains closed. Ivacaftor (Kalydeco®) allows it to open. Class IV: the selectiveness of CFTR is defective, restricting the transport of chloride and bicarbonate ions. Class V: everything is normal except for CFTR quantity, which is diminished. Patients with a class V mutation often have fewer symptoms.
only 2 to 3% of patients, the significant improvement seen in their health bears out the fact that even partial CFTR function correction can have a major impact on cystic fibrosis sufferers’ quality of life.
tic fibrosis sufferers with the class I CFTR mutation. However, substantial ground remains to be covered before this medication is approved by Health Canada for cystic fibrosis treatment.
A number of presentations at the conference provided an update on CFTR correction in patients with class I mutations. In these mutations, genetic messages are not transcribed because of a genetic code defect that tells the cell to stop synthesis of the CFTR protein before it is properly formed. The result is a complete absence of the CFTR protein in the membranes of the cells that line various mucosal tissues. This defect results in cystic fibrosis with severe symptoms. We have known for years that this class of mutations can be countered by the use of certain products belonging to the aminoglycoside class of antibiotics. However, the dose of aminoglycoside needed to correct this defect in patients is too high to be safe. This has led to the development of a small, less toxic molecule known as Ataluren®, by PTC Therapeutics, which has undergone multiple clinical trials for cystic fibrosis. The first clinical trials were very promising, but consisted of small studies with a patient population exhibiting specific genetic mutations. A broader-scale study conducted in North America shows some benefit for specific parameters, but the results are much less convincing than those of the initial study. A sub-analysis of patients to exclude those taking aminoglycoside-type medication reveals that tthe group that took Ataluren® presented marked improvement compared to a placebo group. Indeed, researchers believe that better results might be possible if Ataluren® is compared to a placebo in a population of patients who are not taking any aminoglycosides. These studies are still under way and Ataluren® remains a promising medication for cys-
Finally, 89% of cystic fibrosis patients have at least one class II mutation and half of all patients with cystic fibrosis in Quebec have two class II CFTR gene mutations. Class II mutations (e.g., F508D) prevent CFTR from having a normal structure, and the protein degrades rapidly before it can reach the cell membrane to provide mucus hydration. This requires one medication to be able to deliver class II CFTR to the membrane, and a second medication to open up the membrane. Thankfully, we already have the latter, which is ivacaftor. Research efforts are therefore concentrating on finding new molecules to prevent class II CFTR degradation and allow the protein to reach the cell membrane. Two extensive studies involving almost one thousand cystic fibrosis patients with the class II mutation have been performed. To summarize the results, combining one medication for CFTR delivery (a corrector such as VX-809) with another medication for CFTR opening (a potentiator such as ivacaftor) is clearly an effective strategy. A statistically significant improvement was seen in respiratory function and in the sweat test among patients treated with this combination of medications. However, improvement was only noted in the patient group with two class II mutations. In addition, the improvement was modest, with a 2.6 to 4.0% improvement in pulmonary function (FEV1) and a 30 to 39% decrease in the number of exacerbated pulmonary infections. These differences were unquestionably significant. Moreover, very few adverse effects were observed in the group under active medication. Given the clinical improvements in this population, the company VerSVB 2015 31
tex is working on securing approval from regulatory bodies such as Health Canada for this new therapy. This combination of drugs has not yet been approved by Health Canada. Vertex is also continuing studies on a second combination of correctors and potentiators, namely VX-661 and ivacaftor, for cystic fibrosis sufferers with class II mutations. Some preliminary data in a small number of patients and in the context of short-term studies demonstrates promising results, and, furthermore, this new combination appears to be well tolerated by patients. To sum up, the 2014 North American Cystic Fibrosis Conference shows that 25 years after the discovery of the gene implicated in cystic fibrosis, the defective function of this protein can, at least partially, be corrected. More importantly still, we have learned that correcting the CFTR defect is associated with an improvement in the quality of life of patients, as well as a decrease in the number of episodes of pulmonary exacerbation. Much clinical research remains to be done in order to confirm such results in the majority of patients with cystic fibrosis, but these developments are encouraging for all patients. We
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are at the cusp of a new era of effective therapy for cystic fibrosis thanks to the correction of the fundamental CFTR defect. The effectiveness of these new molecules can only be expected to improve over the coming years, and we should see related medication begin to reach pharmacy shelves over the next five years. However, it will be important to keep up research in order to ascertain the efficiency of each of these products. For the time being, it is essential for everyone with cystic fibrosis to do their utmost to stay in good health so that they will be able to take advantage of these new therapies as soon as they become available. Staying healthy is a significant challenge that requires outstanding collaboration between patients, their families, and the professionals in cystic fibrosis clinics. Together, we will reach our common goal, which is to transform the quality of life of all those suffering from cystic fibrosis.
‹ HEALTH COLUMN › Dr Michel Ruel Joanie Bernier Nurse, B.SC
McGill University Health Center (MUHC) Cystic Fibrosis Clinic Montréal, Quebec, Canada
Sexuality and Cystic Fibrosis
Q : How can cystic fibrosis affect my sexual relations? A : Generally speaking, cystic fibrosis does not prevent normal and satisfying sexual relationships. It has no effect on desire, performance or fulfillment. However, some particularities are worth taking into account in order to promote healthy and optimal sexuality. Cystic fibrosis impacts several bodily systems and can, in some cases, affect sex. The reproductive system: As regards fertility, the wide majority of men with CF are infertile (not to be confused with being sterilized) because of the blockage or absence of their vas deferens (sperm-conducting) duct. For women, the thickness of vaginal and cervical secretions can make it harder, but not impossible, to get pregnant. Be sure to discuss effective contraception with your medical team. On a related note, safe sexual relationships are essential to preventing sexually transmitted diseases. Women with CF are prone to vaginal infections as a result of the frequent use of antibiotics, which influences the vagina’s normal bacterial flora. The most frequent symptoms are itchiness and thick vaginal discharge, which can cause discomfort during sex. Be sure to consult your CF team for proper treatment. The high salt content of their perspiration can make men experience irritation in the genitalia, as well as discomfort for their sexual partners. Good hygiene is recommended, and the use of lubricant can be helpful. Respiratory system: Coughing is often exacerbated by physical exercise. Fits of coughing may consequently result from sexual activity. Chest physiotherapy, when done before sex, can help lower the frequency of coughing induced by exertion. The intensity of CF sufferers’ coughing sometimes leads to urinary incontinence in women. At the wrong time, this can be embarrassing. Some exercises, such as Kegel exercises, can help reinforce the pelvic floor muscles. Depending on the severity of pulmonary problems, some individuals may experience breathlessness. The use of a bronchodilator (roughly 15-30 minutes before sexual activity) can ease shortness of breath caused by exertion. Certain positions can also be preferable, namely those that are less energy-intensive and that free the rib cage in order to be able to fully expand the lungs. This can help get enough oxygen during sexual activity, just as it can during physical exercise. Self-image is an important part of a fulfilling sexual relationship, and can change over the course of illness. A gastrostomy, the use of a port-a-cath, weight loss, a barrel-shaped chest, clubbing and oxygen dependency are all examples of situations that can diminish self-image. An open and honest discussion with your partner can help verbalize concerns and improve understanding of CF. In addition, discussing these issues with your CF team is a good way to explore potential solutions and to find the helpful resources you may need. In conclusion, although certain aspects of CF can affect sexual activity, it is possible to adapt to them and to enjoy fulfilling sexual relationships.
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Inhaled medication Q : What is the recommended order of treatments and inhaled medication? A :
Although, at this time, there is no clear consensus on the optimal order in which to take inhaled medication, the following order is recommended: 1. Bronchodilator (to open the airways), e.g., Ventolin, Bricanyl 2. Mucolytic drug (to liquefy secretions), e.g., Pulmozyme, Hypertonic Saline 3. Chest physiotherapy (to help expel secretions), e.g., PEP, Clapping 4. Other inhaled medicate on (anti-inflammatory and/or a long-acting bronchodilator), e.g., Pulmicort. Oxeze, Symbicort 5. Inhaled antibiotics, e.g., TOBI, Cayston, ColyMycin
Pneumothorax Q : What is a pneumothorax?
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A :
To understand what a pneumothorax is, you have to visualize the lungs inside the chest cavity, surrounded by a double-layered membrane. This membrane is called the pleura, and one layer covers the outside of the lungs, whereas the second layer lines the chest cavity. A pneumothorax is an air pocket that forms between the two layers of the pleura. It can happen spontaneously in a lung affected by emphysema when the damaged and enlarged air sacs (emphysematous bulla) rupture. It can also be brought on by trauma such as an automobile accident or the insertion of a central venous catheter by way of the subclavian vein.
In cystic fibrosis, the formation of these emphysematous bullae is part of the course of the disease. Optimal treatment of cystic fibrosis should delay their formation.
Pneumothorax symptoms consist of sudden chest pain that increases with breath intake, combined with a variable increase in breathlessness.
A mild pneumothorax (less than 20% of lung volume as seen on chest X-ray) can be treated by rest under careful observation, and may actually disappear spontaneously. If this should fail, or in more severe cases, a tube will have to be inserted into the pleura through the rib cage under local anesthetic to suck out the air that is there. If a relapse occurs, there are two possible routine treatments. The first is a chemical pleurodesis, which consists of introducing an irritating substance into the pleural space, thus creating inflammation. This reaction will cause the two layers of pleura to join together, preventing air from getting between them. The other solution is surgery.
For recurrent episodes in people with cystic fibrosis facing eventual lung transplantation, it is best to repeat simple drainage rather than resort to chemical pleurodesis or surgery, which cause adhesions (fibrous bands of scar-like tissue) between the surface of the lung and the inside of the chest cavity. Adhesions are a complication that can make lung transplantation more difficult.
Dangers of ecstasy Q : I love going to raves and taking ecstasy. Do you think that ecstasy is more harmful to persons with cystic fibrosis than to the general population? Have the dangers of this drug been overestimated? A :
Before answering your question, I would like to explain what this drug is made of. Ecstasy is the popular name for MDMA (3,4-methylenedioxymetamphetamine). It is derived from amphetamine, which was synthesized in 1914 and used as an appetite suppressant. It was recycled in the 1970s and 1980s for use in psychotherapy: some therapists used it because it reduced the patients’ inhibitions and helped them talk more openly about their problems. Ecstasy became very popular in the 1980s, when it was adopted in English-speaking countries as a recreational drug at raves. It was then taken off the market. Today, you can buy ecstasy on the black market in pill or capsule form.
The effect of ecstasy on the brain lies somewhere between that of amphetamines (stimulant) and mescaline (hallucinogenic). Ecstasy users also behave in a sensuous manner because the drug makes them feel close to others. In small doses, the side effects are fairly harmless: reduced appetite, dry mouth, palpitations, tightness in the jaw, insomnia, hot flushes and sweating. Once the effect wears off, withdrawal symptoms may include fatigue and varying degrees of depression. With higher doses, however, the consequences can be more serious, including high fever, a rise or drop in blood pressure, irregular heartbeat, bleeding in the brain or the stomach, convulsions and acute liver or kidney failure, all of which can be potentially fatal. Psychological effects range from anxiety combined with feelings of panic, to psychosis or serious depression. All these complications can occur in a normal individual. A person with cystic fibrosis who has major lung and digestive problems would be more at risk of developing serious complications, in my view.
Seven Health Risks* 1. E cstasy causes dehydration, which is often aggravated by an overheated environment and major physical exertion. 2. E cstasy taken with other illegal drugs (cocaine, LSD, speed, ketamine, GHB) and alcohol can increase the toxicity of the substances ingested. 3. P eople who are already on medication, including Aspirin, certain antidepressants, and some drugs used in the treatment of HIV are at risk of having a dangerous drug interaction. 4. P eople who suffer from asthma, circulatory and heart problems, epilepsy, kidney problems, liver problems, diabetes, chronic fatigue or psychological problems are particularly vulnerable and should never take ecstasy. 5. R egular ecstasy users run the same risks as cocaine or amphetamine users: confusion, aggressiveness, mood swings, insomnia, severe anxiety, paranoia, weight loss and weakness. 6. For some people, ecstasy use may cause or uncover long-lasting psychiatric disorders. 7. There is no physical addiction, but some chronic users could develop a psychological dependence.
* Translation of an excerpt from Servicevie.com.
SVB 2015 35
On the eve of our 30th anniversary, we would like to thank all the adults with cystic fibrosis who have served on our board of directors and worked to help us grow over the years. Long life to all of you, who are the reason for our existence! Alexandre Côté, Alexandre Grégoire, Aline Fredette, André Lanciault, André Parent, Andrée Delisle, Anissa Doplihar, Ann Drouin †, Anne Savard, Annick Baré, Annie Dubreuil, Ann-Julie Desmeules, Barbara Maheu †, Bernard Cyr, Bernard Cyr, Brigitte Laflamme †, Carol Côté, Caroline Caron, Caroline Chalifoux †, Chantal Germain, Charlène Blais, Christian Auclair, Christian Beausoleil †, Claire Boulerice, Constance Carpanèse, Costa Anagnostaras, Denis Roy †, Dominique Cerruti, Dora Dubé †, Édith Gosselin, Élise Bouchard, Elise d’Anjou †, Elizabeth Lalancette, Esther Leblond, Félix-Antoine Langevin, France Larochelle, Francine de Guise, Frédéric Patry. Frédéric Villeneuve, Frédérick Gauthier, Gaétan Verreault †, Geneviève Labrecque †, Guillaume Bouchard, Hugues Leclair, Isabelle Jalbert †, Jean-Éric Ouellet †, Jennifer Gagnon, Josée St-Pierre, Julie Gagnon, Julie Haché, Julie Lapointe, Julie Lavallée, Julie Tétreault †, Lise Tardif †, Louis Dumoulin, Louis Tremblay, Lysandre Barrette, Marc Fortin †, Marc Raymond, Marc-Eric Desmarais †, Marie Mainguy, Marie-Ève Beaulieu, Marie-Hélène Roger †, Marie-Josée Labbé †, Marie-Julie Savard, Mario Gagné, Martin Lemire, Mathieu Maillé, Mélanie Cossette, Mélanie Pichette, Michaël Dassylva-Ahern, Michel Paquette †, Micheline Fortin-Simard, Mireille Dubé, Murielle Gagné, Nancy Johnson †, Nancy Lefrancois †, Nicole Berthiaume-Gravelle, Nicole Nadon †, Patrick Brothers, Paul Bougie †, Pierre-Alexandre Tremblay. Pierre-Luc Dufour, Raymond Lapointe, Réal Duchesne, Richard Gervais, Richard Godbout †, Roger Barnard †, Sandra Salomon †, Sebastien Dandurand †, Serge Benjamin, Sonia Grenier †, Stéphane Roy †, Stéphanie Poirier †, Stéphanie Wells, Steven McDougall, Suzanne Raymond, Sylvain Lavoie, Sylvie Lemonde, Tomy-Richard Leboeuf McGregor, Valérie Gosselin, Valérie Mouton, Vincent Mainguy, Yvan Ouellette †, Yves St-Laurent †
See what’s out there. Ask your doctor.
Visit tobipodhaler.ca
TOBI is a registered trademark of Novartis Vaccines and Diagnostics, Inc. used under permission by Novartis Pharmaceuticals Canada Inc. Podhaler is a registered trademark. 14TOB014E © Novartis Pharmaceuticals Canada Inc. 2014
Living with Cystic Fibrosis would like to thank Vertex for its generous contribution to the production of the 39th edition of SVB.
The Fondation l’air d’aller offers to adults with Cystic Fibrosis in psychological distress free access to a psychologist in their area.
www.fondationlairdaller.org
Pour recevoir ce numéro en français : 514-288-3157 / 1-800-315-3157 Courriel : info@vivreaveclafk.com Also available in PDF on our Web site: www.vivreaveclafibrosekystique.com
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Exercise Does Not Take Time in Your Life, it Adds Life to Your Life !
Living with Cystic Fibrosis
SVB 2015