COMMUNITY Magazine, Winter 2012 - In Their Words Issue by Caring Voice Coalition

COMMUNITY

A SPECIAL ISSUE VOICED BY PATIENTS LIVING WITH CHRONIC ILLNESSES. THEIR STORIES. IN THEIR WORDS.

Volume 1 • Issue 4 • Winter 2012 • The Quarterly Publication of Caring Voice Coalition, Inc.

The Diseases We Support

who is Caring Voice Coalition? Caring Voice Coalition, Inc. (CVC) is a national 501(c)(3) non-profit, charitable organization established in 2003 to provide financial, insurance education and patient support to individuals diagnosed with specific chronic or life-threatening diseases. CVC seeks to empower these patients by providing comprehensive programs delivered through a holistic approach by a staff of knowledgeable, dedicated and caring individuals.

How We Help Financial Assistance Financial Assistance in the form of monetary grants, is provided to eligible patients to help remove the barriers to starting or remaining on therapy.

Insurance Education & Counseling Insurance Education & Counseling offers both Alternate Coverage and Social Security Disability & Appeals Assistance to help you gain a better understanding of insurance and help appeal any denials of coverage you may be faced with.

Patient Support Patient Support helps patients identify public and private programs and services that may be of benefit to them.

Call Toll Free 1-888-267-1440 CaringVoice.org

ONTENTS 4

stephanie hukill. A woman who has fought since birth to keep her Factor XIII at bay.

jim williams. A man hoping to shed light on Pulmonary Fibrosis, an illness he thinks deserves more attention.

trey haertel. A family man and his continuing battle with Complex Partial Seizures.

germaine schuster. A woman describing the effects of Narcolepsy, before she knew what Narcolepsy was.

nicole and mike jouppi.

A wife and husband speaking on behalf of their twin sons living with Chronic Granulomatous Disease.

A mother speaking on behalf of her son living with Complex Partial Seizures.

amanda harvey-mckee & dr. murali chakinala. A patient and

jean wittie.

A woman detailing how Huntington’s Disease has affected her family.

jessica jackson.

A young woman who acts as caregiver for her mother with Alpha-1.

josie alvarado.

A woman chronicling her years-long fight with Pulmonary Hypertension.

kindra cansler.

her doctor. A doctor and his patient. Examining both sides of the patient/doctor relationship.

michelle staley.

A mother describing how her business was spawned due to the premature birth of her son.

karen trainer.

A woman’s fight and current control over her Chronic Pain.

Staff Publishers

Editor in Chief

Artistic Director

Pamela Harris pharris@caringvoice.org Samantha Harris sharris@caringvoice.org

Alex Withrow 888.267.1440, ext. 144 awithrow@caringvoice.org

Taylor Scott 888.267.1440, ext. 117 tscott@caringvoice.org

Advertising Disclaimer Any references to products, services or health care providers in this magazine are not a recommendation or endorsement of products, services or providers.

Medical Disclaimer The information provided in Caring Voice Community is not a substitute for professional medical advice or care.

Graphic Design & Illustration Anthony Nesossis 888.267.1440, ext. 174 anesossis@caringvoice.org

Please recycle this issue.

ve the notion of letting people tell their own stories in their own words, void of any form of stylized creative writing by an author.

at isn’t to say these stories are easy. They take a great deal of time to edit and tighten. It’s simply a different way of telling stories. It’s an exercise.

e patients have the hard part. They have to be courageous enough to share their stories with me, and this magazine’s subsequent readers. That takes ngth.

s is the first issue of Community in which we have at least one article about every disease CVC supports. That’s something I’m quite proud of.

Letter from the Editor

me of the interviews for this issue lasted two and a half hours. Others took less than 15 minutes. I never tell someone that time is up. If they have mething to say, and are willing to say it, then it’d be criminal to silence them. You have to let them keep going.

Alex Withrow

ngs can get emotional during the interviews, sure. For many people, this is the first time they are sharing their story with someone that isn’t a friend, mily member, or doctor. Many times, they go through a gamut of emotions with me on the phone, or in person. There are often tears, screams, extended ses, and so on. But every single interview I’ve conducted for this magazine – every single one – has ended with the patient happy. Uplifted, even. Our versation ends with them acutely aware that they have to keep going. Keep fighting. Whether they are advocating, caretaking or living with it, they are ud of themselves. The central theme of this issue is the fight – the struggle and perseverance. e intention was for this issue to act as a 32-page piece of reflection. People reflecting on their lives, and the lives of their loved ones. The New Year is fast the opportunity notion of letting people tell theirhappened, own stories in look theirforward own words, void of any roaching, and we all thought this issue was Ialove perfect to remember what’s and to what’s coming. form the of stylized creative writingbecause by an author. pically end my conversations with patients with words “Keep fighting,” that’s what I truly believe our patients have to do. Keep fighting. The

tral theme of this issue is the fight – the struggle and to perseverance. I loveare theeasy. notion of take letting people telloftheir stories their own words, void of a That isn’t say these stories They a great deal timeown to edit and in tighten. m of stylized creative writing by an author. That isn’t to say these stories are easy. They take a great deal of time to edit and tighten. It’s simply a different It’s simply a different way of telling stories. It’s an exercise. y of telling stories. It’s an exercise. The patients have the hard part. They have to be courageous enough to share their stories with me, and this magazine’ and have the hard have be courageous enough to CVC supports. That’s sequent readers. That takes strength. This isThe the patients first issue of caregivers Community in which wepart. have They at least onetoarticle about every disease share their stories with me,two andand thisamagazine’s readers. That strength. mething I’m quite proud of. Some of the interviews for this issue lasted half hours.subsequent Others took less than 15takes minutes. I never tell someone that e is up. If they have something to say, and are willing to say it, then it’d be criminal to silence them. You have to let them keep This is the first issue of Community in which we have at least one article about everygoing.

ngs can get emotional during the interviews, sure. For many people, this is the first time they are sharing disease CVC supports. That’s something I’m quite proud of. their story with someone that isn’t a friend, mily member, or doctor. Many times, they go through a gamut of emotions with me on the phone, or in person. There are often tears, screams, extended Some of the interviews for this –issue lasted two and a half hours. Others took less thanUplifted, even. Our ses, and so on. But every single interview I’ve conducted for this magazine every single one – has ended with the patient happy. 15 minutes. I never tell someone that time is up. If they have something to say, and versation ends with them acutely aware that they have to keep going. Keep fighting. Whether they are advocating, caretaking orareliving with it, they are sayasit,a 32-page then it’dpiece be criminal to silence them. You have let them going. ud of themselves. The intention was for thiswilling issue totoact of reflection. People reflecting onto their lives, keep and the lives of their loved ones. e New Year is fast approaching, and we all thought this issue was a perfect opportunity to remember what’s happened, and look forward to what’s comin Things can get emotional during the interviews, sure. For many people, this is the first

pically end my conversations with patients with “Keep their fighting,” that’s what truly believefamily our patients have time the theywords are sharing storybecause with someone that Iisn’t a friend, member, orto do.

I’m

Many times, theyand go through a gamut of emotions with me on the phone, or ep fighting. The central theme of this issue isdoctor. the fight – the struggle perseverance. in person. There are often tears, screams, extended pauses, and sowriting on. Butby every single ve the notion of letting people tell their own stories in their own words, void of any form of stylized creative an author. interview I’ve conducted for this magazine – every single one – has ended with the at isn’t to say these stories are easy. They take a great deal of time to edit and tighten. It’s simply a different way of telling stories. It’s an exercise. patient happy. Uplifted, even. Our conversation ends with them acutely aware that they e patients have the hard part. They have to be courageous enough to share theirWhether stories with this magazine’s subsequent have to keep going. Keep fighting. theyme, areand advocating, caretaking or livingreaders. That takes ngth. This is the first issue of Community in which we have at least one article about every disease CVC supports. That’s something I’m quite proud of. with it, they are proud of themselves. me of the interviews for this issue lasted two and a half hours. Others took less than 15 minutes. I never tell someone that time is up. If they have The intention was for this issue to act as a 32-page piece of reflection. People reflecting mething to say, and are willing to say it, then it’d be criminal to silence them. You have to let them keep going. on their lives, and the lives of their loved ones. The New Year is fast approaching, and ngs can get emotional during the interviews, For many people, thisaisperfect the first time they are sharing their story with someone wesure. all thought this issue was opportunity to remember what’s happened, and that isn’t a friend, mily member, or doctor. Many times, they go through a gamut of emotions with me on the phone, or in person. There are often tears, screams, extended look forward to what’s coming. ses, and so on. But every single interview I’ve conducted for this magazine – every single one – has ended with the patient happy. Uplifted, even. Our versation ends with them acutely aware thatI they haveend to keep going. Keep fighting. Whether advocating, caretaking or living with it, they are typically my conversations with patients withthey the are words “Keep fighting,” because ud of themselves. The central theme of this that’s issue is the Ifight the struggle what truly– believe our patients have to do. perseverance. Keep fighting. e central theme of this issue is the fight – the struggle and perseverance. We Welcome

Your Feedback and Questions.

COMMENTS FROM OUR READERS

Your magazine is helping me cope with my illness. Very informative articles that make for good reading. Sophie, Pennsylvania

..................................................................................................................................... I received the third issue of Community and congratulate you once again for the thoughtful articles that you publish. Theses articles all seem to be written from the heart. Dottie, Georgia

..................................................................................................................................... Yesterday I received my first issue of your magazine and I want to thank you so much for sending it to me. Not only did I learn more about PAH but was able to explain it to my family. I just wanted you to know how much I learned from your magazine and how it gave me a much better outlook on my travel through time. June, Florida

magazine@caringvoice.org

@CVCinc

/CaringVoiceCoalition

Keep fighting.

I’ve only had one goal: to help people.

CVC 10 Years Later — An Incredible Honor

It’s no easy task for a non-profit organization to make it 10 years, especially in light of the financial crisis we have experienced as a nation over the past several years. Since our incorporation, CVC has helped tens of thousands of people. While it’s difficult to recount the names of every person we’ve helped, I wanted to share a few of the memories of which I hold most dear to my heart. In 2003, CVC was formally incorporated into a 501 (c)(3) organization. Since our humble beginnings of starting CVC out of my home, in my daughter’s bedroom, I’ve only had one goal: to help people. Over time, with this one single goal, CVC began to take off and grow immensely. What an incredible responsibility that I believe God handed to me.

Receiving an OIG opinion was a rather memorable moment. In 2006, we applied for an opinion from the Officer of Inspector General (OIG Opinion). Eight weeks after applying to the Department of Health and Human Services, CVC received a positive opinion (04-06). A positive opinion is kind of like a good housekeeping seal of approval, only bigger in the non-profit world. This was a way to let potential donors know that we were a bona fide charitable organization and that our programs were not only “good” but they were also legal and ethical. That was in April 2006 – a huge milestone for us.

e ny t ’s s t

. ng.

very

proud to say, today, the number

I still vividly remember the first patient I was able to help at CVC. He was an Alpha-1 patient, a truck driver and a very proud man. Like most of us, he had a difficult time coping with his illness; he was at the anger stage of his disease. I was eventually able to break through his frustrations and provide him with the help he needed with his COBRA premium. When I shared that CVC would help him with his monthly premium costs, he started to cry saying “he never thought help like this was possible.” The next day he sent me a dozen roses and it was my turn to cry. I saved those rose petals and am often reminded of my many conversations with this dear man. That’s the stuff you remember.

Even though I love the work I’m doing, there are always times when you slow down, but you get up and keep going. You keep going and your commitment and drive and ambition get stronger every day. When I was fighting breast cancer, I had seven surgical procedures in a 12-month period, and I only missed one week of work combined. I needed to get my mind off of myself and on to helping others. By being in a positive environment at CVC and around some of the most passionate people on earth… I truly believe the CVC team was a big part of my recovery. All of the employees at CVC are just as committed to helping people as I am. I couldn’t imagine not having the group one goal of we have here today. As many of you know, the customer service levels and Servant CVC remains Leadership skills at CVC are out of this world. I’m very proud to say, today, the number one goal of CVC remains the same as in 2003: to help people. the same as Over the years, we have been blessed to have gifted partners, and are extremely proud in 2003: to to play a part in the important work they do. We look forward to working with you to help people. make 2013 CVC’s brightest year yet.

Letter from the President Pam Harris

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caring voice

COMMUNITY

COMMUNITY Volume 1 • Issue 1 • Spring 2012

The Quarterly Publication of Caring Voice Coalition Inc.

WHY THIS

MAN

IS NOT

Julie Flygare’s Fight for Narcolepsy: From the Streets of the Boston Marathon to the Steps of Capitol Hill

pg. 16

Breathing New Life

A HERO

How one young woman’s double lung transplant helped put life into perspective

A 9/11 Rescue Worker Living with Pulmonary Hypertension

pg.18

IN THIS ISSUE: trinity hamilton: dancing cirque du soleil with narcolepsy the battle between patients and medical compliance overcoming stress in the face of chronic disease the healthcare reform act: a timeline leading pulmonologist question and answer tips for your spring workout understanding your social security disability and much more

Volume 1 • Issue 3 • Fall 2012 The Quarterly Publication of Caring Voice Coalition, Inc.

Volume 1 • Issue 2 • Summer 2012

Diary of a R.E.M. Runner

PAGE 18

Breaking the Cycle:

A Caregiver’s Generational Battle with HD

Your Guide to Summer Travel The Psychology Behind Medication Adherence The Quarterly Publication of Caring Voice Coalition, Inc.

Your Guide to Pulmonary Hypertension The Faces of PH Patient Stories e-Learning Tutorials Physician Q&A

Also in this issue Writing as Therapy Balancing Your Budget The Importance of Embracing Technology

We’ve received a handful of inquiries that readers on our mailing list did not receive the first issue of the magazine. You can view every edition digitally at CaringVoice.org, or please feel free to email magazine@caringvoice.org and we’ll send you back issues right away.

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Factor XIII When I was born, everything was fine. But when my umbilical cord fell off, it just kept bleeding and bleeding and bleeding. My mom kept taking me back to the doctor, but no doctor knew what was going on. So after six or seven doctor visits, my mother had had enough and said she wasn’t leaving until they could tell her what was wrong with me. The doctor did some research and said he thought I had hemophilia. He recommended a blood transfusion, and I’ve been receiving them every two weeks throughout my life. When I was younger, they’d have to shave the side of my head, because our transfusions were given in the head. I say “our” because my brother, who was born four years after me, was born with the same condition. Growing up, I wasn’t allowed to play any sports that could affect my joints. Softball, basketball – couldn’t do it. Really, anything that required strenuous activity were things the doctor told me I could not do.

It was embarrassing in school. You have to tell people about it and explain why you can’t participate in things. No one knows about Factor XIII. No one talks about it. There is still hardly anything on the Internet about it.

What Is

Factor XIII? Factor XIII is the protein responsible for stabilizing the formation of a blood clot. In the absence of Factor XIII, a clot will still develop but it will remain unstable. When someone has a deficiency of Factor XIII, the tenuously formed clot will eventually break down and cause recurrent bleeds.

Symptoms

• Soft tissue bruising • Mucosal bleeding • Intracranial bleeding • Newborns may have umbilical cord bleeding

Diagnosis

Diagnosis is made by normal coagulation screening tests and a detailed family history.

caringvoice.org • Winter 2012, In Their Words

It is an invisible disease, sure. The main thing people notice is that I bruise really easily. It’s not a typical, small bruise; they are large, hematoma bruises. But other than that, you can’t tell anything is wrong with me. I just have to be careful and take precaution. As I get older, I have more problems with my joints. I have to exercise my joints to keep them strong, as a way of avoiding bleeds. But I have to be very careful how hard I push it. It’s like walking around on eggshells every day. If I hit myself with something, or drop a box on my foot, you never know exactly what it’s going to lead to. I didn’t like talking about Factor XIII when I was younger, but I’ve become a very open person, and I like educating people about it now. People are typically intrigued about the disease because it’s so different.

My doctor once told me that I would never be able to have children. Now I have three kids. I’ve received several calls from people with Factor XIII, wondering how it is possible to have biological children. The risks involved are so great, so people are really curious.

My first two labors went very well, but the third one was very difficult. It got to a point where we just didn’t know how it would end up. But thankfully, everything was all right. And that’s basically how I have to live: a little unsure about what is going to happen on any given day, but remaining happy and thankful for all that I do have.

Every family can use some help. Introducing COMPASS Support Services for patients in need of ACTIMMUNE® (interferon gamma-1b) therapy.

COMPASS (Comprehensive Personalized Patient Prescription Advocacy & Support Services) provides patients, families and healthcare providers with one-stop, convenient access to a variety of support services and programs at no cost, such as: • Reimbursement Hotline • Co-Pay Assistance Program

• Patient Assistance Program • Syringe Disposal Program

Call 877.305.7704 Talk to our Reimbursement Case Advocates for answers to your important questions. We’re here Monday through Friday from 8:00 AM to 6:00 PM Eastern time.

ACTIMMUNE® is indicated for: Chronic Granulomatous Disease: ACTIMMUNE® is the only therapy currently approved by the U.S. Food and Drug Administration to reduce the frequency and severity of serious infections associated with Chronic Granulomatous Disease (CGD). CGD is a genetic disorder that affects the functioning of some cells of the immune system. Severe, Malignant Osteopetrosis: ACTIMMUNE® is also the only medication approved by the U.S. Food and Drug Administration to slow the worsening of Severe, Malignant Osteopetrosis. Severe, Malignant Osteopetrosis is also a genetic disorder that affects normal bone formation. Important Safety Information for ACTIMMUNE® ACTIMMUNE® is contraindicated in patients who develop or have known hypersensitivity to interferon-gamma, E. coli-derived products, or any component of the product. The most common adverse experiences occurring with ACTIMMUNE® therapy are “flu-like”, or constitutional symptoms such as fever, headache, chills, myalgia, or fatigue, which may decrease in severity as treatment continues. Some of the ‘‘flu-like” symptoms may be minimized by bedtime administration of ACTIMMUNE®. Acetaminophen may be used to prevent or partially alleviate the fever and headache. Reversible neutropenia and thrombocytopenia have been observed during ACTIMMUNE® therapy and caution is advised in patients with myelosuppression. Caution should be exercised when administering ACTIMMUNE® in combination with other potentially myelosuppressive agents. Reversible elevations of AST and/or ALT have been observed during ACTIMMUNE® therapy. Patients begun on ACTIMMUNE® therapy before one year of age should receive monthly assessments of liver function. If severe hepatic enzyme elevations develop, ACTIMMUNE® dosage should be modified. See full prescribing information for further details of warnings and precautions at Actimmune.com. Sponsored by Vidara Therapeutics Inc. © 2012 Vidara Therapeutics Inc.

What Is

Pulmonary Fibrosis? Pulmonary fibrosis is a condition in which the lungs develop an excess of connective tissue (or fibrosis), known as “scarring” of the lung. As a result, the lungs become thick and stiff over time, and breathing becomes difficult.

Pulmonary Fibrosis

I’ve put 12 years into this disease. There’s a lot I can say.

I had never heard of pulmonary fibrosis until my brother passed away from it. He was diagnosed when he was 41, and we didn’t know what the disease was at the time. He lived for nine years with the disease before he died. He developed holes in his heart, and his body just couldn’t take it. Two months after he passed away, I was diagnosed with PF. I had had symptoms for a few months, but I didn’t realize what they were. My brother didn’t live close to us, and we just never made the connection that I had what he had. My wife and I were just stunned. But the doctor said, “Don’t worry about it, you won’t have any problems for 10 years.” But seeing how my brother had just passed away from it, I knew that wasn’t right. So I had to take it upon myself to do something about it. I couldn’t just wait around.

caringvoice.org • Winter 2012, In Their Words

So I started various therapies, everything from taking my time while walking, to just taking it easier in general. I didn’t seem to get worse, but my main problem I had was getting pneumonia for five years, and I was hospitalized two to three times a year for that. I also got congestive heart failure, which is a complication of pulmonary fibrosis. For PF, there is no FDA-approved treatment currently available. It is weighed on a case-by-case basis, and depends entirely on the individual patient’s health. There is no cure for PF. The only thing the medication can do is help slow it down.

Since 2005, I haven’t been able to do anything without using oxygen. It used to be on a limited basis – just when I moved around, or went out of the house – but now I need it all of the time. I used to need two to three liters per minute, now I require six liters per minute. PF can cause a lot of other health issues, one of which is pulmonary hypertension, which I was diagnosed with in 2008.

When I was diagnosed with PF, they said the average life expectancy was two to five years. I was diagnosed 12 years ago, and most likely had the disease two years before I was diagnosed. And there are a lot of things that go into life expectancies – what is your overall health when you get the disease, how good of shape is your body in, what other issues do you have, things like that.

In the end, doctors can’t tell me why I’ve lived 12 years, and someone else may only live six years. I tell people that the only thing predictable about pulmonary fibrosis is its unpredictability. You can’t predict how it’s going to work, when it’s going to get worse; you just don’t know. It’s different for every patient.

The thing is, there are a lot of doctors that just don’t know much about this disease. It is misdiagnosed over and over and over, because it is so rare. I’ve had recently diagnosed people come to my support group and ask if pulmonary fibrosis is a serious disease, simply because their doctor couldn’t tell them any more about it. Obviously, some doctors do communicate about this disease very well. But in my experience, there are certainly some that do not. And that is frustrating to the patient. Yes, it’s a rare disease, but I’m still surprised that more don’t talk about it. Marlon Brando died from PF, so did Evel Knievel but for the most part, it is off people’s radar. With all that said, patients need to be their own advocates and do their own research. When I was diagnosed in 2000, there was no Pulmonary Fibrosis Foundation, there was no Coalition for Pulmonary Fibrosis. Resources are out there, you just have to look and keep at it. Right now, I’m so far along in my progression that I’m kind of limited to what I can do. Everything is based on the amount of oxygen I have. If I go somewhere, I have to make sure I have enough oxygen to last me. That’s the way it works. I have to be on it all of the time. All I can do at this point is try to help others with this disease. That’s my job. I encourage people to educate themselves and ask their doctors the right questions. I encourage people to not give up hope, advocate, and fight for their health. I run the only support group in the state of Kansas. We need more of them. Go through the steps of diagnosis, educate yourself, and help each other. That’s what we all have to keep doing.

PF affects about 128,100 people in the United States, with about 48,000 new cases diagnosed annually.

40,000 people

die each year to PF, the same as to breast cancer.

No FDA approved drug for treatment. There is currently no cure. Roughly two-thirds of IPF patients pass away within five years.

MORE COMMON THAN CYSTIC FIBROSIS AND LOU GEHRIG’S DISEASE

Statistics courtesy of Coalition for Pulmonary Fibrosis

Easton, left, and Owen Jouppi

Chronic Granulomatous Disease (CGD) e had Owen and Easton on May 21, 2010 and on April 14, 2011 just a month before their first birthday, they were both diagnosed with CGD.

They weren’t meeting milestones that typical infants should meet. They weren’t gaining weight or eating food. There was a very clear failure to thrive. Owen developed perirectal abscesses, and that’s something that males with CGD will get. Sometimes they will have cysts on their legs and arms, or have reoccurring pneumonia. About a month later, Easton began getting the abscesses too. Owen would lose weight as quickly as he gained it. Our pediatrician referred us to a gastrointestinal doctor who monitored Owen for a couple of months and after trying a few medications, the doctor ordered the CGD test.

caringvoice.org • Winter 2012, In Their Words

They ordered the test on Easton as well because the two are identical, and the thought was if one of them has it, they both might. And they both did. A few months later, the boys had eye surgery and the gastro doctor ordered an endoscopy and a colonoscopy. After that, we found out they not only had CGD, but chronic colitis as well. If males get chronic colitis in addition to CGD, they don’t typically get it until later in life. Owen and Easton were 13 months old. In CGD, the white blood cells don’t work properly. A white blood cell encases an infection and breaks it down, their white blood cells encase the infection, but do nothing with it. So infections get bigger and bigger. Basically, their bodies can’t fight off bacteria or fungal infections, so they can’t be in sandy environments, dirty areas, things like that. They don’t

If a two and a half year old sees a kid playing in the sand, then they want to go play in the sand with them. Owen and Easton can’t do that.

have to live in a bubble, but they need to be very careful.

Males have an XY chromosome and females have an XX chromosome. Females don’t get CGD often because they can cancel out the bad X, but because males have the XY chromosome, they are more at risk. After the boys were diagnosed, we learned that Nicole had been the carrier of the CGD, and she had gotten it from her mother. CGD is typically inherited through the mother, so it made sense. The way we understand it, if a female has CGD, then her mom and dad both were carriers of it, but for males, only the mother has to be a carrier.

One of the things is that if you and I get sick, we show it on the outside. But if they’re sick, they look healthy as can be. Completely normal on the outside, but very sick internally. Because the boys aren’t old enough to fully understand the disease, they have to be monitored constantly, which can make day care and play dates difficult. If a two and a half year old sees a kid playing in the sand, then they want to go play in the sand with them. Owen and Easton can’t do that. Owen Jouppi

CONTINUED ON PAGE 11

Easton Jouppi

Inheritance Pattern About 75% of cases inherited are in a X-linked recessive manner CGD is a genetically determined disease

Can be inherited or passed on in families

2 PATTERNS FOR TRANSMISSION Inherited in an autosomal recessive fashion carried on chromosomes other than the X chromosome

Inheritance Pattern (courtesy of the International Patient Organization for Primary Immunodeficiencys)

caringvoice.org â&#x20AC;˘ Winter 2012, In Their Words

75% MALES

AFFECTED 15%

FEMALES

CONTINUED FROM PAGE 9

What is Chronic

Nicole actually ended up quitting her job so she could stay home with the boys full time. We realized it was going to be too difficult to put them in day care. There are the many safety precautions, but also several steps for the medication as well. It’s a very strict regimen.

The Jouppi Family

We still hold out hope that they will be cured, but the only cure is a bone marrow transplant or stem cell, which is not highly recommended unless you become seriously ill. But we remain hopeful for the future.

But after all of this – the medications and safety concerns and so on – Owen and Easton are just two boys. Two boys who like to chase each other around, play with toy cars. They love going to the playground, but just have to be a little more careful than some of the other kids. It’s great to finally see them healthy and just acting like little boys. For such a long time it was such an uphill battle and struggle for them. And although we’re still learning about what they can and can’t do, it’s nice to see boys being boys.

Granulomatous Disease? Chronic granulomatous disease is an inherited abnormality of certain cells of the immune system. These cells have difficulty forming the reactive oxygen compounds used to kill bacteria. Chronic granulomatous disease causes repeated bacterial infections, and without treatment, the disease can be fatal.

COMMUNITY Volume 1 • Issue 3 • Fall 2012 The Quarterly Publication of Caring Voice Coalition, Inc.

Caring Voice Community

is continually looking for advertisers who Breathing want to reach our New Life loyal readership with their products and services. For questions, comments or inquiries regarding advertising or editorial content, please e-mail magazine@caringvoice.org for more information. How one young woman’s double lung transplant helped put life into perspective

PAGE 18

Your Guide to Pulmonary Hypertension The Faces of PH Patient Stories e-Learning Tutorials Physician Q&A

Also in this issue

Writing as Therapy Balancing Your Budget The Importance of Embracing Technology

EASTERN ROYAL

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Pulmonary Hypertension It all goes back to 2005 when I started having asthma symptoms – the coughing, the wheezing, a lot of sinus and allergy problems – things like that. I started off by seeing an allergist, who performed several lung function tests, gave me nasal sprays, basically things to treat the asthma.

What Is

Pulmonary Hypertension? Pulmonary Hypertension (PH) is a simplified name for a complex health problem– continuous high blood pressure in the pulmonary artery in the lungs, resulting in an enlarged heart which can also lose its ability to pump.

Months would pass and I kept failing the lung function tests. My allergist finally told me I had COPD. So I went to see a pulmonologist and gained a second opinion. It was 2007, and I had a very difficult time tracking a pulmonologist down. The first doctor I chose was semi-retired, and the treatments I received from him just didn’t work for me. They were invasive and ineffective. So then I took myself to a cardiologist, because I thought I had congestive heart failure. I had to do all of the legwork myself. I wasn’t getting referrals from any of the doctors to see other specialists – I had to put in the work myself. The cardiologist gave me a right heart catheterization and asked me several questions about my health. These were detailed questions that I had never been asked, and it felt good that someone was finally asking me something new. He concluded that my arteries were not clogged, but I had a mild case of pulmonary hypertension. “What’s that?” That was the first thing I said. He told me it was life threatening and I would have to get on new drug therapies and change a lot about how I live my life. It took a while for me to find my cardiologist, but he was the one. He was the one I was looking for. He got the ball rolling on my treatment. You have to fight to find that one. After being on medication for a number of years, there are good days and there are bad days. Some days I wake up and it physically feels like there’s nothing wrong with me. Other days, I can’t manage to get out of bed. Today, right now, I feel good. Great even. But there were many days before when I did not. All in all, it took five years to get it right. Five years of different doctors, treatments, medications. So if there is one thing I can impart on people who are currently in the situation I was in five years ago, it would be to stick with it. You must find the proper treatment for you. And it won’t be easy, it won’t. But educate yourself on what’s going on with you, and stick with it.

caringvoice.org • Winter 2012, In Their Words

Symptoms • Chest pain

• Shortness of breath or fatigue

• Narrowing and constriction of the arteries between the heart and the lungs leads to deterioration of the right side of the heart.

• More than 30,000 diagnosed patients in the U.S., of all ages, including children

ONLINE RESOURCES

Pulmonary Hypertension Association www.PHAssociation.org

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Huntington’s Disease

y husband Frank and I have been married for over 30 years. We have a blended family of seven children, six grand children and five great grandchildren. The two oldest boys are my boys from my first marriage, and they are the ones who have been diagnosed. Todd is the younger one, he’s 43. He began having some problems – facial twitching and jerking – in 2009. He’d always had problems with his thyroid, and his doctor at the time thought all of Todd’s problems were related to that. The doctor kept raising and raising the medication, until he took Todd completely off it. Nothing worked. I finally took him to my doctor, who thought he had MS. We went to see a neurologist who ordered an MRI and genetic tests. When the diagnosis came back, it blindsided us. We had no idea that there was anything like this anywhere.

caringvoice.org • Winter 2012, In Their Words

Jean Wittie, directly right of the groom, with members of her family on the Oregon Coast

After Todd was diagnosed, his doctor ordered testing for Todd’s older brother, Dale. Dale had some symptoms, but they weren’t very pronounced, so he thought he was home free. But just before Christmas 2010, his diagnosis came back as positive for HD. So I set out to learn as much as I could about Huntington’s. I found the UC San Diego Autism Center of Excellence and they were so encouraging. They invited Todd and myself to their research symposium, where we met researchers, officials with the Huntington’s Disease Society of America, and families with HD. It was all very encouraging. As a result of that symposium, we were finally able to get both Todd and Dale on a medication that helped restore their quality of life. Dale lives in his own home with his adult son, daughter and her family. Dale’s daughter and her family moved back to Oregon to be closer to Dale and help out.

When the diagnosis came back, it blindsided us. We had no idea that there was anything like this anywhere. Unfortunately, Dale’s daughter was diagnosed positive in March. Dale’s son, and Todd’s two daughters have not yet been tested. Todd’s two girls live in Alaska and want to be tested but they are working their way through the state’s medical system now. Dale’s son is practicing avoidance behavior – he’ll get to it, but for right now, he does not want to be tested. My husband Frank has always been supportive of the boys and of me. He’s the one that keeps reminding me to be patient when I need to be. I still work and I go to school, so Todd is at home alone during the day. I make meals that will be easy for him to eat, he takes care of the yard, feeds the dogs… both my husband and I want Todd to have as normal a life while he still can. Our extended family is huge, and Todd and Dale have all of the love and support our family can offer. Various family members have attended the conferences, support groups, walks – everyone in the family is there for Todd and Dale. I truly feel that if I stay positive and persevere, then there will be a cure. We all have to have the courage and the hope to keep going. You have to keep fighting. So that’s my story.

What Is

Huntington’s Disease? Huntington’s Disease is a disorder passed down through families in which nerve cells in certain parts of the brain waste away, or degenerate.

Symptoms Include Chorea

Chorea is an abnormal involuntary movement disorder associated with Huntington’s Disease as a primary symptom

FACTS •

If one of your parents has Huntington’s Disease, you have a 50 percent chance of inheriting the gene for the disease

•

Common symptoms of Huntington’s Disease range from behavior disturbances in mood, abnormal physical movements, dementia and restlessness

• No cure for Huntington's Disease

The Staley Family

y husband and I were married for seven years before we decided to have kids.

We lived in Denver for a while, but moved out to a farmstead near where I grew up which made my commute to work an hour and 40 minutes one way. I was offered a new position at work, which was more money, but I knew more stressful and demanding as well. I really was not feeling well. My feet were so swollen that I couldn’t wear shoes. It was really difficult, but I assumed this was what it felt like to be pregnant. At my monthly doctor’s appointments, my blood pressure was always fine, but one month I went in and it was off the charts. The next day, my OBGYN left me a message saying I needed to come in right away.

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Ty was born at 27 weeks and weighed 1 pound, 8.5 ounces. Ty was originally supposed to be born on Mother’s Day, but he was actually born on Valentine’s Day. Because he was so fragile, we were basically told that he probably wasn’t going to make it. It was very touch-and-go. Four months later, we finally got to take Ty home. We were extremely excited, but we were taking him home on oxygen, which I knew was his lifeline. It was different in the hospital, because there were monitors and nurses and so on. But we lived out in the middle of nowhere, and my husband and I were scared. But we had plenty of local support from family and friends, which helped immensely.

So I went in, scared and not knowing what to expect, and she told me that there was a chance they could lose both myself and my baby.

Ty was initially sent home with a pull cart for his oxygen, and it was awful having to carry that around everywhere we went. I was nervous he might accidentally pull something loose or knock something over – it was just awful.

I was moved to a different hospital and given medicine to drop my blood pressure. At that point, I was six months pregnant. Soon, the doctor told me that the baby’s heart rate wasn’t doing well, and that they were going to have to induce me. I went in for an emergency C-section the next day and I had Ty.

I was looking to start my own business as a way to stay home full time. One night I was putting Ty to bed and was really frustrated by the cumbersome oxygen bag. Then I had an a-ha moment.

After a few months, we were able to go down to a smaller tank size, which fit in a little bag that went over my shoulder.

caringvoice.org • Winter 2012, In Their Words

I searched the web to see if I could find a backpack made specifically for oxygen users. A bag I could put everything into. I couldn’t find any such products, and that’s how Busy Breathers was born. Getting the bags made wasn’t easy. I had no experience with any of that stuff, so I just went to work. Found manufacturers to make prototypes, compared costs, then had to come up with funding to have the bags manufactured. I went to a bank that did non-traditional funding. They turned me down. But a while later, they told me they were in the mood to take a risk, so they backed me. It took two and a half years. From the moment I came up with the idea, to the time the bags were available for sale. Two and a half years. Sales fluctuate, sure. Typically in the summer, sales drop down. Then they pick back up come cold and flu season. And it’s bittersweet. When my sales pick up, it’s good for my business, but obviously I don’t wish for anyone to be sick. I just provide a product that I think, and hope, people under particular circumstances can benefit from. My son is responsible for the tenacity I have as a small business owner. The passion behind my company comes entirely from him, this seven year old, red headed angel.

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Complex Partial Seizures hen I was nine years old, I got viral encephalitis which is a swelling of the brain, and from that, I ended up in the hospital for several weeks and left with a diagnosis of epilepsy.

About five years later, my parents and I moved to a larger city, and I started seeing a new doctor, and he said that I may have a type of epilepsy known as complex partial seizures, which are very hard to control. I’ve been going back and forth with doctors and medications all my life. Only recently have I started to get a control over the seizures. With all that said – the doctors, and medications, and trial studies – I really have to take everyday and look at the bright side of things. I was told young that I wouldn’t graduate high school, then after I graduated high school I was told I wouldn’t graduate college. But I did. I started my life with hopes of going out into the world and writing software programs, but the seizures prohibit that. I can’t remember and perform at a pace that is needed in that field. You have to produce in that line of work, and I simply can’t do that. Before I started this new medication, I was getting about four to five seizures a month for the past several years. The longest I’ve gone without a seizure was one year, and shortly after that happened I got my license for the first time, and got in a wreck because I had a seizure. After that, it was decided that I wouldn’t drive anymore. Stress triggers them. Lack of sleep. I got a lot of seizures in college, just from lack of sleep. Same when my daughter was born. It all comes down to keeping things to a routine. If I do the same things every day, the seizures seem to be better. It’s

about putting my body first and saying, Hey, I have this condition and this is what can happen if I abuse it.

My memory is very bad as well. The seizures have destroyed that part of my brain, almost to the point where it is difficult to make Trey with his wife, Christy, and their new memories. My short-term daughter, Chloe memory can equate to that of an Alzheimer’s patient. So I write everything down to make sure I remember it.

When I look back at my life, I have to be thankful for what I do have, not what I don’t have. I’m thankful for my wife; she’s the one that holds our family together. I’m thankful for the lovely daughter we have. I’m thankful for so much, because you have to be. I’m a stay at home dad. And it took me a while to accept that. But now I accept it openly. This is my role, this is my job in my family, and I’m happy to do it. Staying at home has brought me closer to my daughter in a way I suspect many fathers don’t have with their children. It’s also brought me a lot closer to my wife. So yeah, I’m thankful for that. You ever realize that if you wake up in the morning and you’re in a bad mood, you tend to stay in a bad mood all day? Same if you wake up with a positive attitude. That’s what it comes down to for me. I wake up and say, “Today, I’m going to get something done, and this is what it’s going to be.” I have to say this, for anyone who may read this with complex partial seizures or any form of epilepsy: Always look on the bright side of things. If you don’t, it can get depressing pretty fast. Don’t be afraid of the seizures. Embrace them and do your own research to help control them. Be patient. And acknowledge the bright side.

What Is Complex Partial Seizures? A complex partial seizure is a seizure that results in an alteration in consciousness. During a complex partial seizure, the person cannot interact normally with other people, is not aware of his or her movements, and usually cannot remember afterward what occurred during the seizure. Because the person may still be able to perform routine tasks such as walking, the seizure may not always be noticeable to others. Complex partial seizures often last for two to four minutes, and they may be followed by a long-lasting state of confusion.

caringvoice.org • Winter 2012, In Their Words

Narcolepsy I had just started a new job, and every once in a while, I would doze off now and again, which is something that has happened to me for a long time. I was aware something was wrong long before I knew what it was called. I didn’t even know what narcolepsy was.

I used to be at a friends houses, and I would get so tired that I would dig my fingernails into my hand as a way of keeping awake. But that only got me so far. Often, I would tell the group that I was going to use the restroom, but I’d really sneak off to a bedroom for a short nap. It never took much of a nap to give me a lot of energy. Just a few minutes.

One day I was driving home, and I could see where my driveway was, but I pulled into someone else’s driveway, ready to crash through their garage door. That startled me to say the least. I had just been diagnosed with asthma and I called my doctor and said that the medicine he had me on was making me very sleepy. I went in for an appointment, and he said it wasn’t the medication that was making me tired, it was something else. He directed me to a neurologist, which resulted in me taking a sleep-deprived test. The test was in the morning, so I was told to stay awake all night. In the morning, I went into the office, had several wires and such attached to me, then went to sleep. After that, I was diagnosed with narcolepsy.

When I explained all of this to my mother, she said she always thought I was just a very tired person who could fall asleep under any circumstance. We simply didn’t know about such a thing as narcolepsy. The first medication I was on gave me terrible headaches, so I moved on to another medication, which worked much better. In the middle of all of this, my husband died unexpectedly, so it was just a very very bad year. A rather traumatic time for me.

But now, years later, my narcolepsy is the same. Manageable. When I go to work, I don’t sit down, if I sit down, then I’m tempted to sleep. Same at home. I try to keep moving, keep active. I think now as much as ever, it’s important to stay active.

Complex Partial Seizures

Kindra with Justin

Justin with his father, Jake

ustin was born in 2007 and while I was pregnant, everything seemed pretty good. Actually, everything was too good to be true. I wasn’t as tired and I didn’t eat as much as I had when I was pregnant with my daughter. But once I hit 30 weeks, things changed.

caringvoice.org • Winter 2012, In Their Words

Parents have to be advocates for their children. They have to be.”

Justin wasn’t growing anymore, and I wasn’t growing anymore. We did a bunch of weekly testing to monitor progress, and when we got to 36 weeks, the doctor recommended that we take Justin out the following week. But he didn’t make it to 37 weeks. I failed the stress test in week 36, so out he came. He was born at 4 pounds, 14 and a half ounces.

We could tell something was wrong right away. His lung wouldn’t fill up with air, he had short toes on one of his feet from bad circulation in utero, and shortly thereafter an inguinal hernia was found, and so on. We stayed with him overnight in the hospital for that first night, because they couldn’t get his oxygen level up where it needed to be. He was transferred to another facility, and they told us they thought Justin had trisomy 18, which means you typically won’t be taking your baby home. Children with trisomy 18 typically don’t live past 10 days. So they did 10 days worth of tests and they found that he didn’t have it. The doctor did have a list of all the things that were wrong with him, and the main thing is pachygyria, which is a malformation of the cerebral hemisphere.

In 2007, there was hardly any information on pachygyria. Now there is a lot, but back then, we were kind of in the dark.

So, yeah, we had a bit of a rocky start. He stayed in the hospital for 23 days, and then we finally got to bring him home. When we got to 20 months, it was time for his MMR vaccination, and exactly seven days later, Justin had his first seizure. And it was a bad one. Since then, he’s had about 20 “big” seizures total, and roughly one to five smaller seizures a week.

It’s all about repetition. To gain new skills, Justin has to do something over and over and over. He’s five now and is just learning to walk. He learns late, but it’s fantastic to see him hit any milestone. We were never sure if Justin would make it to that milestone, so to see him achieve is just… it’s truly amazing. Back then and to this day, he hasn’t been a good chewer. He has a lot of trouble gaining weight, so I have to give him extra calories however I can. I put extra butter in his food, liquid whipping cream in his drinks – and he still doesn’t gain weight. I don’t think he’s gained more than a pound in two years. He’s getting taller, he’s definitely growing, but he’s always been very slender. CONTINUED u

Watch Kindra’s video on CVC’s Vimeo page: vimeo.com/32456771

Society will give you the minimum if you don’t push for more. You have to push and make your voice heard.” Parents have to be advocates for their children. They have to be. Justin can’t speak, so my husband and I speak for him. Society will give you the minimum if you don’t push for more. You have to push and make your voice heard. That’s true with doctor’s appointments, that’s true with school, that’s true with bus rides, it’s true with everything. It’s a process to keep up with Justin’s health. It’s a full time job. He’s had more surgeries at age five than most people do in their entire lives. But we give therapy to him for everything we can give therapy for. That’s what you have to do.

I don’t know how people do it alone. There’s no way we could. My family and my husband’s family have given vital support for Justin’s care. Surround yourself with people that can help. That, to me, is a must. He’s incredibly sweet, that’s a good way to describe him. He loves TV, he’s a people person, he loves being near people. He loves school. He just found out how to turn a page in a book, which is great. I don’t think he knows what the book says, but like I said, him turning a page is a milestone, and milestones are a big deal.

As long as he’s content, we’re content. As long as we’re bringing smiles to each other, then we’re happy. And he’s happy.

Want to hear more patient stories? Visit CVC’s Vimeo page. vimeo.com/thecaringvoice

Alpha-1

was six when my mom was diagnosed, and I actually don’t remember a time when my mom wasn’t considered disabled. My brother and I always chipped in with small things when we were younger. Carrying in the groceries, house chores, helping mom’s nurses, things like that.

When I started going to high school, I took on a lot more responsibility with my mom. It was interesting to see that shift in people’s faces. Friends would come over and meet my mom and give me that look of, “Oh, I had no idea.” People look at you differently after a thing like that.

Once I started college – which is weird, because I wasn’t at home – that’s when I became the most involved with her health. She started scheduling her major pulmonology appointments around my school breaks. I’m pretty good with social things, which includes talking to your mother’s doctor when your mom is really upset. Whenever she’s upset, she’ll call me and we work through it. I handle a lot of the emotional side, and my dad handles a lot of the physical aspects of her care. We all work together. I’m in graduate school for genetic counseling, so I’m really fortunate that, because of the program I’m in, the school officials are really understanding of my situation.

What Is

Alpha-1 Antitrypsin Deficiency? Alpha-1 is a genetic condition passed on by parents to their children that can cause serious liver and/or lung damage.

Facts • • •

Roughly 1 out of 2,500 people in America have Alpha-1 About 10 to 15 percent of all liver transplant candidates have the Alpha-1 related genetic abnormalities Currently there is no cure for Alpha-1

caringvoice.org • Winter 2012, In Their Words

I was always interested in science, and I always knew that I wanted to go into medicine. Originally, I thought about being a doctor, but when I heard about genetic counseling, I was immediately intrigued. When I took genetics in college, I knew right away that this was what I wanted to do with my career. So I changed my career path and spent about a year shifting my life and studies to focus on genetic counseling. My mom is currently on the transplant path, so that’s been a welcome change. The prospect of a transplant is happening a lot faster than we all thought it would. She’s actually looking to get a transplant as early as January, so we’ll see. I’ve already spoken to my program director at graduate school, and they know I’m going to be gone as long as I need to be to help with my mom. They’re really great about the whole thing. A few days ago, my mom asked me what it will be like to no longer have a mother that’s considered disabled. And I laughed and said I didn’t know. It’ll be a transition we’re all excited about.

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Patient of Dr. Murali Chakinala We did not have the easiest relationship starting out. Now, we work really well together, but it’s been eight years in the making.

I was a biomedical research lab manager at the time of my diagnosis. At that time, not a lot of people knew what pulmonary hypertension was. We didn’t know what the treatment was (for a person who had PH secondary to a blood clot), what the diagnostics were, it was all very new. Things have changed in the past eight years, but back then, not a lot of information readily available.

At that moment of diagnosis, you’re trying to figure out what it all means, trying to define the big words – it’s a lot. And I even felt like I had an edge of other patients because I did come from a medical background, but in that field at that time, there just was not a lot of information about PH. So I started at zero like everyone else.

My primary care physical said that Dr. Chakinala was the person I needed to see. He was the expert in his field, the up-and-comer, and he was who I needed to talk to.

When I first saw Dr. Chakinala, he had a resident with him, and I fully appreciated that. But when you’re in the patient chair and not the teaching chair, it puts things into a very different perspective. It was very frustrating to me to sit and listen to them argue over pressures and counts and scores and tests and numerical values when ultimately I just wanted to know what I was supposed to do with this disease. I left Dr. Chakinala’s office with him telling me I didn’t need to be considered for a very complicated surgery (PTE-pulmonary thromboendarterectomy) at that time. So just as I was wrapping my mind around the possibilities of a new game plan, a few days later, he called me at my home and said I needed the surgery. That completely irked me, to be honest. So after our first meeting, and that phone call, I felt really disheartened by the whole healthcare system. It added further confusion and frustration and meant that I needed to start preparing for what would inevitably be a life-altering procedure. It was too much and I went into a bit of denial. This turned out to be a mistake on my part, because Dr. Chakinala did the right thing: he went back to review everything again, seeing that my situation wasn’t straightforward. And ultimately, he was correct in the decision that I needed the surgery sooner rather than later. I told Dr. Chakinala, “Thanks but no thanks, I’ll call you if I need you.” And after a while, I did. I went into heart failure and knew that I needed the surgery, so I called Dr. Chakinala, told him I needed a referral and he said no problem. I’m grateful that he was still willing to take me on as a patient. After my surgery, I started at ground zero with him. I told him I wanted to get involved with PH, and he introduced me to a few people, and we started a PH journey together, so to speak. I became a support group leader, and he became my go-to person for any medical question or patient question. He was, and continues to be, very accessible to me. I’m very respectful of his time and status, but if I email him, he’ll get back to me right away.

I’m very fortunate to feel this level of security, just because my doctor is available when I need him. So from a patient perspective, and a support group leader perspective, Dr. Chakinala has really been invaluable to what I’m trying to do as an advocate for this disease. It’s a good relationship in that way. I had to let go of my controlling nature and have faith he was putting me first as a patient. Since then, we have open communication, where I can ask questions and voice concerns without judgment and know I’ll receive honest answers. This leads to me being more involved with my care and allowing him to help me do so. Trust, it comes down to trust.

caringvoice.org • Winter 2012, In Their Words

Amanda and Dr. Chakinala at the PHA conference in June, 2012

Doctor for patient

Amanda Harvey-McKee Our history as a patient and doctor has evolved quite a bit over time. When Amanda and I first met, she was already in my opinion quite sick and I thought she needed to go down a certain path in terms of treatment, which I’m sure was daunting and scary for her. But I did feel that a proven, surgical intervention was the only treatment for her.

I met her when she was young, working, recently married – she was trying to lead a busy life and telling her she needed major heart-lung surgery wasn’t what she wanted to hear.

So no, we didn’t really have a great start to our relationship. Our immediate reaction to each other wasn’t the best. And at the time, she said she didn’t want the surgery, and we ended up not communicating for about a year. When I did see her next, her health was much worse and I reiterated my recommendation and she went and had the surgery.

Her recovery was long and rocky. She nearly didn’t survive. But she kept fighting and managed to pull through rather well. Now she’s doing great, a new person in terms of how she feels and what she’s able to do. She’s extremely committed to the Pulmonary Hypertension Association's cause. She’s also fully aware about how lucky she is and how unlucky other patients are, so she’s doing what she can to give back and act as a resource for patients in need. Amanda and I have acted as partners in a lot of ways, in terms of her leading grass roots efforts to help other patients. She leads the support group meetings, and I try to be a medical resource for the group. I refer patients to the support group and she recommends patients to me from the support groups, so we really try to help each other out. When I reflect back on all of this, I think Amanda and I would’ve done things differently, but I learned a valuable lesson. I was a young physician and I knew what she needed but I think I was a little too blinded and focused on the treatment and not thinking about what it meant to the patient and how much her life would be affected. And clearly I didn’t sense that she wasn’t prepared for that kind of news. Instead of coming on a little softer and introducing the idea while building a relationship of trust, I was more unilateral with my opinion. The lesson I learned is that there are treatments that we know a patient needs, but as a physician, we have to respect a patient’s decisions and ways of thinking.

That’s the difference between being a doctor who has got the initials in front of their name and a healer, someone who is really trying to help the patient. We can’t isolate our patients, we have to cultivate the relationship and bring them along.

Chronic Pain

Karen before starting her medication

It felt like my feet were on fire. I couldn’t stand the pain of my feet touching anything. But when I touched my feet, it felt like they were ice cold. It was very surreal.”

t’s fairly rare, not a lot of people have heard of it.

It’s called reflex sympathetic dystrophy, or RSD for short. And what it is, basically, is pain that results from the sympathetic nerve. There’s no cure for it, so all that can be done is therapy to regulate the pain.

I was the victim of a hit and run. Drunk driver. I had many injuries from that accident, and during the course of my physical therapy months later, I had to start walking on the heels of my feet because the balls of my feet hurt so badly. I went to several different doctors, and the consensus was that I had RSD.

It felt like my feet were on fire. I couldn’t stand the pain of my feet touching anything. But when I touched my feet, it felt like they were ice cold. It was very surreal. After a few surgeries, which helped the pain in one foot but not the other, I tried a handful of various medications, none of which worked. Eventually, I had a pump placed into my abdomen to help control the pain. The only way to take the medicine is through this pump, so every two months, I have the pump refilled, and that’s the way it goes. I have to have surgery every six years, because that’s how long the battery on the pump lasts. So they have to replace the pump every six years.

This is an affliction that I’m going to have for the rest of my life. Maybe one day they’ll make a pill that will act as my only medication, but for now, I have the pump. And really, the pump is great, it helps tremendously with my pain, and the surgery for it is non invasive. Before the pump, my pain level was consistently at 9 or 10. Now, I have no pain at all. This medicine has changed my life. It is a blessing. I can walk, I can drive again, I can do yard work, run errands, all those things. I can function again.

What Is

Reflex sympathetic dystrophy (RSD)?

• RSD is characterized by a group of symptoms including pain (often "burning" type), tenderness, and swelling of an extremity associated with varying degrees of sweating, warmth and/or coolness, flushing, discoloration, and shiny skin.

caringvoice.org • Winter 2012, In Their Words

Karen after starting her medication

• How RSD occurs is not known, but there are often triggering events. • Symptoms of RSD often occur in three stages: 1) acute, 2) dystrophic, and 3) atrophic. • Diagnosis of RSD is based on clinical findings, supported by radiological tests.

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