What legacy will you leave? By taking the simple step of making a provision in your will or living trust today, you can create a legacy of giving that will have a tremendous impact tomorrow on future generations who will need financial assistance and support for their chronic illnesses.
For information on how you can impact the future of Caring Voice Coalition and the patients it serves through a legacy commitment, please contact: Rebecca App, Director of Finance 888-267-1440 ext. 106 financedept@caringvoice.org Your donations are fully deductible for estate tax purposes.
| Contents |
10 4 5 6 7
Contributors Letter from the Editor President’s Letter Reader Comments
8 Close Up:
Meet CVC board members, James Rock and Cheryl Sullivan Staveley.
10 Finance
With tax season just around the corner, here are 6 tips to help you prepare.
12 At a Glance
Taking a look at thalassemia, a rare blood disorder that causes excess iron in the body.
14 Taking Control of Your Condition
Jennifer O’Connor has had over 50 procedures related to kidney stones. She shares what she has learned to help take control and look at things with a new perspective.
18
16 Still Smiling
With a diagnosis of pulmonary hypertension and lupus, Dwaine Kuhar continues to smile, enjoy life and encourage others to do the same.
24 For Better or Worse When Winn White’s wife, Harriet, was diagnosed with HD, he remembered his promise to love and care for her. Here, he explains his secret to being a caregiver and support to his wife.
18 Soldiering On
Jody Wright shares her battle with orthostatic hypotension, and how her family and their support have helped her remain strong.
26 The Will to Survive Lisa Wagner shares how she found purpose and took control after a diagnosis of dermatomyositis.
20 Kyle’s Gift
Kelley and Don Thorson became advocates for Phelan-McDermid Syndrome after their son, Kyle, was diagnosed with this rare disease.
22 The Power of a Positive Mind
37
29
28 Caregiver Q&A
Sarah McDonald speaks about caring for her mother, Lisa, who has been diagnosed with dermatomyositis.
29 Finding Your Joy
Miabella Mojica learned how to find support and lift her spirits through expressing creativity and practicing mindfulness after being diagnosed with narcolepsy.
Lancin Choate remains positive despite being diagnosed with pulmonary fibrosis, thanks to the support of his family and a healthy lifestyle.
32 Patient Association Profile: PMSF Nick Assendelft, Vice President of the PhelanMcDermid Syndrome Foundation (PMSF) provides insight into the organization’s goals and mission.
34 Healthy Eating
CVC has put together fresh ideas to spruce up your salad to make it healthy and delicious.
36 Health Watch: What’s in a Name?
CVC Program Manager, Lauren Ruiz, explains the cost differences between generic and name brand medications.
37 Health Watch: Hospital Checklist
This handy checklist will help you to be better prepared in the event you are hospitalized.
Staff Publishers Pamela Harris pharris@caringvoice.org Samantha Green sgreen@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.
Publishing Editor Robin Lawson 888.267.1440, ext. 130 magazine@caringvoice.org
Medical Disclaimer The information provided in Caring Voice Community is not a substitute for professional medical advice or care.
Director of Communications Jennifer Previtera 888.267.1440, ext. 141 jprevitera@caringvoice.org Copyright Caring Voice Community is produced by Caring Voice Coalition, Inc. Copyright ©2015
Graphic Design Charlie O'Donnell 888.267.1440, ext. 130 codonnell@caringvoice.org
Please recycle this issue.
3
| Contributors |
This issue, in their words Rebecca App Director of Finance, Caring Voice Coalition
Nick Assendelft Vice President, Phelan-McDermid Syndrome Foundation
Lancin Choate Patient, Pulmonary Fibrosis
Craig Koch Staff Accountant, Caring Voice Coalition
Dwaine Kuhar Patient, Pulmonary Hypertention, Lupus
Robert Mayfield, M.D. Department of Medical Affairs and Compliance, Caring Voice Coalition
Sarah McDonald Caregiver, Myositis
Miabella Mojica Patient, Narcolepsy
Jennifer O’Connor Patient, Kidney Stones
James Rock Board of Directors, Caring Voice Coalition
Lauren Ruiz Program Manager, Caring Voice Coalition
Cheryl Sullivan Staveley Board of Directors, Caring Voice Coalition
Kelley & Don Thorson Caregivers, Phelan-McDermid Syndrome
Lisa Wagner Attributions Photo pg. 36 by Jorge Gonzalez is licensed under CC BY-SA 2.0 Photo pg. 37 provided by CDC/Amanda Mills via phil.cdc.gov Photo pg.24 provided by Nicholas A. Tonelli under CC BY 2.0
4
Patient, Myositis
Winn White Caregiver, Huntington’s Disease
Jody Wright Patient, Orthostatic Hypotension
caringvoice.org • Winter 2015 • In Your Words
| Letter from the Editor |
Sharing the journey
O
ne of our favorite running features in Community is “In Your Words,” when people living with rare, chronic illnesses have the opportunity to tell their stories, in their own words, offering insight and encouragement to thousands of others who can best relate to their struggles, and their victories. Through sincere reflection and a genuine desire to help others, their words inspire, educate, and serve as one of the best motivators to keep looking forward, to persevere. In the spirit of the season, we thought this was the perfect time to share a collection of these stories with you. We hope you’ll connect with the caring voice in each one, and find comfort in knowing you’re not alone. We hope their courage and faith serve as reminders that even in the most difficult of times, the human spirit prevails.
CONTACT US
In this issue we’ve also included informative articles on the differences between generic and brand medications, a hospital checklist, and tax tips. And, a Q&A with the vice president of the Phelan-McDermid Syndrome Foundation offers an enlightening glance into the lives of the families affected by this rare chromosomal disorder. As with any rare disease, raising awareness is one of the key components in promoting research, with hopes of one day finding a cure.
If you have any comments or questions about this issue, or would like to tell your own story, please write to us!
Email:
In the year ahead, and the years to come, Caring Voice Coalition is here to help. Whether it’s advocating for patients and caregivers, raising awareness of rare conditions, providing financial assistance, or sharing stories that offer hope and understanding, we’re honored to be by your side.
magazine@caringvoice.org
Mail: Caring Voice Coalition, Inc. 8249 Meadowbridge Road Mechanicsville, VA 23116
Thank you for being a part of our community.
CVC on the web: www.caringvoice.org
Robin Lawson
“
“
It is tenderness for the past, courage for the present, hope for the future. It is a
fervent wish that every cup may overflow with blessings rich and eternal, and that every path may lead to peace. Agnes M. Pharo
5
| Letter from the President |
A change for the better
T
he state of health care for the chronically ill person in the United States today is better than ever before, but there is still a lot of work that needs to be done to alleviate the financial burden on American families. Too often I hear of patients slipping through the cracks of our health care system and lacking essential access to medications that will advance their healing process. And all too often, I hear of patients who truly need, but are unable to afford basic health insurance. Fortunately, assistance is available. That’s why Caring Voice Coalition was founded.
“
In 2003, when I started researching what was vitally important to patients in rare disease communities, I was disappointed by what I saw. There was a lack of personal support and financial assistance that was desperately needed by many chronically ill people. There is no doubt that research for a cure will always be of fundamental importance. However, meeting a person’s tangible needs of increasing health insurance premiums, unaffordable copayments and solid advocacy efforts are equally crucial.
At Caring Voice Coalition, we believe can make a difference.
“
every person
I started my own nonprofit organization to help reduce the burden of stress and improve the lives of chronically ill patients across the nation. CVC was once working out of my home supporting a few hundred patients with a small team of 2, and now we are a team of 50 advocates supporting over 35,000 patients annually. That is awe-inspiring to me. There’s nothing better than hearing the sound of relief in a person’s voice, and knowing you and your team helped put it there. As we move to an even brighter future in 2016, expanding the number of disease states, we know that the support of our donors will continue to make all the difference in the world to the chronically ill communities we serve. At Caring Voice Coalition, we believe every person can make a difference. We welcome your participation in our quarterly magazine, Community. Write to us and share your personal story or experience so that you might encourage and inspire others. Together, we can take on the eternal mission of brightening many lives, and believing that small acts of kindness have the power to instill the most change within a person. As we move into 2016, we all have so much to be thankful for. Above all, I am most thankful that you have allowed Caring Voice Coalition to somehow be a part of your life this past year. I wish you peace, joy, and love from the bottom of my heart. I look forward to serving you for another exciting year!
Pamela Harris 6
caringvoice.org • Winter 2015 • In Your Words
| Reader Comments |
It was a pleasant surprise when I received my first issue of Community. With your help I am now receiving my new medicine which has helped tremendously with my PAH. Having the new medicine and Community, I am learning how to cope with daily chores. It is inspiring to hear how others have over come some problems. A big thanks CVC for your financial and moral support.
I recently enjoyed an article about Lauren Ruiz in Community magazine. It reminded me it is time again to arrange for Part D insurance for another year. And, to do with that, I am so very grateful for the help Caring Voice Coalition has given me. Because of your help, I think the medicine is helping me. Thank you. Barbara Duffee Georgia
I found the article ‘Lifting the Cloud of Depression” to be very enlighting. I believe depression is one of the most hidden and underdiagnosed diseases out there right now. With suicide rates getting higher and higher (especially among the younger generation) there definitely needs to be more awareness!
The fall issue provided information on Sarcoidosis. I was able to help a family friend that has been recently diagnosed with this disease by providing them the information from the article. This is not the first time that I have been able to “pay-it-forward” and provide others with information that you provide in your magazine. Thank you for making such a positive impact on everyone’s life. Randy Jopp Minnesota
I always look forward to the new issue of Community. I’m always finding great ideas on how to manage my day to day life living with chronic illness, and the stress it can bring to me and my caregiver.
Patricia Woltjen
Ed Kriesel
Lisa Mullin
South Carolina
Arizona
California
Cloud 9 is Caring Voice Coalition’s free, secure online portal. Log onto Cloud 9 at any time to apply for assistance and access all of your CVC-related information and communicate with a representative. Apply for financial assistance Real-time secure access Easily update your contact, address, medical, and insurance information View current grant information and recent payments CVC has made on your behalf
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Visit caringvoice.org and click on the Cloud 9 logo to register and access your account.
| Close Up |
James Rock
Board of Directors
M
y wife, Sandra, and I live in California. We have two very supportive daughters, a dedicated sonin-law and two beautiful granddaughters. I’ve been retired now for about a year and a half. I had my own business, Rock & Associates, for 35 years. I’m a caregiver for Sandra, who was diagnosed with idiopathic pulmonary fibrosis (IPF) in 2001. When she was first diagnosed, she was given three to five years to live, but she’s far surpassed that. She continues to live one day at a time, and she has a great attitude about everything. She’s a fighter. Not long after she was diagnosed, Sandra started a support group in Northern California with a nurse that has since passed from the same disease. Sandra handed over the reigns of the support group about a year ago because of her health. There are still 40-60 people who attend the support group on a monthly basis and Sandra continues to take phone calls at all hours of the day from people all over the country. She continues to offer support by acting as a resource, and telling others where they can get more information. When we first started lobbying Congress in the early 2000s, IPF was generally not known. We kept hammering away, talking to anyone we could and doing our homework. After about four or five years of lobbying we reached a milestone in raising awareness—a House Resolution was passed that identified IPF as a terminal disease. We still need to bring more awareness to the disease; what it does, how many people it affects, how many people die of it every year. When you’re given the diagnosis of IPF, you’re numb. You don’t know where to turn, or what to do. CVC has been stellar in getting information about IPF out 8
caringvoice.org • Winter 2015 • In Your Words
to people and helping them with their condition. There have been big strides with new drugs that are coming out, so I think there’s a lot of hope. I joined the CVC Board of Directors in early 2015. I’ve enjoyed every moment and I’m honored to serve the organization. Working with staff, directors, and other patients at CVC has been outstanding.
“We kept hammering away, talking to anyone we could and doing our homework.” The thing that I find so interesting about CVC is its ability to work on a very personal level. I have a friend whose 18-year-old daughter was diagnosed with pulmonary hypertension. It was devastating. I put them in touch with CVC and they were connected with people who offered support and assistance with her diagnosis. That’s CVC in action. It’s a wonderful resource for many people who are very sick, and very scared. To be a part of that, you can’t put a dollar amount on it. It’s just tremendous. The message I want to get across is to hold on. When you’re suffering from a disease, don’t give up. There are people out there who are willing and able to help you so don’t quit. Keep going. Be persistent and don’t take no for an answer. Always be your own best advocate. It’s your life.
| Close Up |
Cheryl Sullivan Staveley Cheryl Sullivan Staveley and her daughter, Meghan.
W
hen I first heard about Huntington’s disease (HD) I was in nursing school in 1978. I was talking with a school nurse about my upcoming wedding to John Sullivan. She recalled caring for John’s mother, who died when John was 14, and asked if I knew that she had died of HD. John’s family had been told by the family doctor that she died of heart failure, so I thought the nurse was mistaken. Still, it nagged at me. Later that day, I looked up HD in one of my textbooks and found only two sentences on it. In my senior year of nursing school, I wrote a paper on HD and I remember being so grateful that John’s mother didn’t have it. John and I thought it was safe to have children. In 1981 our daughter Kaitlin was born, and in 1987 our daughter Meghan followed. In the summer of 1989, during a long car ride to Niagara Falls for a family vacation, I noticed John’s shoulder shrugging and finger tapping. I started recalling everything that I had read about HD. Then in December of that same year, one of John’s colleagues at the police station called to say that many of the officers were concerned about him—his loss of balance, facial grimacing, and deep-knee bending. Something just didn’t seem right. Once I received that call, I knew John had HD. It was like a dagger in my heart. Within two weeks he was diagnosed. That was essentially my initial foray into HD. Right away John and I decided two things: we would educate our girls about the disease and we’d fight it every step of the way. We felt a responsibility to advocate. If we didn’t, who would? John died in September 2008 at the age of 56. But, from 1989 to 1997, he was still able to work at the police department and was promoted to captain. He also ran the Boston Marathon. John did remarkably well and had seven good and productive years after his diagnosis.
Board of Directors Kaitlin and Meghan always said that they were more afraid of the unknown, rather than the known, and they both knew at some point they would test for the HD gene. Meghan had juvenile HD. She was officially diagnosed at age 19, but I suspected it as early as 13 or 14. It was extremely subtle, cognitively, but the symptoms progressed rapidly from the time of diagnosis in 2007 to the time she died in 2014. Kaitlin was 25 when she was tested. She and her husband wanted to have at least one child and didn’t want to perpetuate the HD gene. Fortunately, there are now ways to ensure that you have a child without the HD gene. Once Meghan was diagnosed, I left my job as a nurse so I could focus fully on her, and on the education and advocacy of HD. I had been advocating since John was diagnosed, but having my daughter test positive for the gene made it even more impactful and I wanted to do more. I had the good fortune of being able to travel for about three years with Meghan to various speaking engagements. I’m compelled to advocate because I need to honor my family. This is my duty. I’m going tell everyone in the world that I can about HD with the hope that someday there will be a cure. It might be too late for my family, but if I can help prevent this from happening to another family, then that is my mission. I joined the CVC Board of Directors in July 2015. I do a lot of work at the local and national levels for the Huntington’s Disease Society of America (HDSA) and I’ve been fortunate enough to speak to my U.S. senators and congressmen in Washington, DC, as well as my state senators and congressmen in Boston. I also continue to speak at colleges and civic organizations, and I run two support groups in Massachusetts. Today, Kaitlin remains symptom free. My granddaughter, Teagan, will be 7. She does not have the HD gene. 9
| Finance |
6 Tax Tips TO KNOW
Before You File By Craig Koch and Rebecca App
A
s the holidays end and the New Year begins, tax season looms large for all of us. Many people are more than happy to file their returns as soon as they receive all the tax documents, knowing a nice refund awaits that may be automatically deposited into their bank account. For others, filing taxes is a dreaded task, with the expectation of dipping into savings to pay the government. We hope the tips below will help alleviate some of the stress and keep or even add money to your bank account this tax season. Keep in mind that the tax code that governs our returns is fairly complicated and changes yearly. If you have questions about a specific tax scenario, it is best to consult a qualified tax preparer or certified public accountant (CPA).
When are tax returns due? Individual tax returns should be postmarked on or before April 15th. Extensions may be requested by filling out Form 4868. Filing an extension will give you six additional months until October 15 to file your tax return. However, filing for an extension does not extend the time you have in which to pay your tax liability. If you believe you will owe taxes, the best way to avoid additional interest and penalties is to pay the expected liability with Form 4868. If you live in a state that also requires an income tax return, you should be aware of the filing deadlines as all states have different rules and extension forms.
How to file your tax return In this electronic age, more and more individuals are filing both federal and state returns online due to the ease of access and the many software programs available to help. If you choose to file a paper return, you can print the form from the IRS website or you can get the forms from your local post office or library. If your income is below $60,000, there are multiple tax services that will allow you to file both 10
caringvoice.org • Winter 2015 • In Your Words
your federal and state tax return for free. Visit www.irs.gov and click on “Free File” under Filing and Payment. Also note that some states offer free filing through their state government website. To get started, the first item to review is your filing status and dependents. You should gather the following information for everyone in your household: •
Name and tax ID (either the individual’s social security number or Individual Taxpayer Identifier Number)
•
The date of birth and the relationship of the individual to the taxpayer (son, daughter, parent, spouse)
•
Taxpayer’s current address
Documents to collect For reporting your income and claiming deductions, there are various tax documents to collect. Forms W-2, 1099, 1098 and 1095-A’s must be distributed or mailed to individuals on or before January 31. You should expect to receive these forms in late January or in the first 10 days of February. Items to include: •
W2 (for each job held during the tax year)
•
1099 (social security, contract work, state tax refund, rental income, school loans)
| Finance | •
1098 (school loans, mortgage interest, property tax, school tuition)
•
1095-A (if you enrolled in a health plan through the Marketplace)
•
Interest-Dividend-Capital Gain Statements (checking/savings, cd’s, broker statements, stocks, mutual funds)
•
Charitable contributions (letters from the charitable organization, cancelled checks, donation receipts)
•
A voided check (this will help set up direct deposit, so a refund can be deposited directly into your account)
•
Last year’s tax return. If you have it, last year’s return is very helpful in ensuring your tax return for the current year is complete, as well as reporting items that have been carried forward that can reduce your tax liability for the current year (capital loss carryforward).
Are social security benefits taxable? One of the most concerning matters to individuals is whether or not social security benefits are taxable. Social security benefits are often tax-free, however, if you have substantial income from other sources, such as wages, selfemployment, interest and dividends or stock sales, you may find that a portion of your benefits are taxable. If a portion of your social security benefits are taxable, you may want to increase withholding from wages or through the social security administration.
Do you have health insurance? One of the most recent changes to the 1040 is that you are now required to report whether or not you have health insurance for yourself as well your spouse and dependents listed on your tax return. This requirement is for everyone, whether you have commercial insurance through an employer, Medicare or Medicaid, or the Marketplace. If you purchase health insurance through the Marketplace, you will need Form 1095A to file with your tax return. This form will be provided by your health insurance provider and should be mailed to you by the end of January. You will also be able to access the form online through your account that was set up for your health insurance. If you have health insurance through the Marketplace and received a premium credit, you will have to file a tax return in order to receive
the premium tax credit for the next year. Additionally, if you have a significant life event, such as a birth or adoption, marriage or divorce, move to a new address or have a change in household income, don’t forget to contact the Marketplace to ensure that your coverage is adjusted accordingly.
Reducing tax liability To assist in reducing your tax liability, it may benefit you to file Schedule A for Itemized Deductions. These deductions include payments for: •
Medical and dental expenses – The deduction for medical expenses is the amount in excess of 10% of your adjusted gross income (AGI). If you or your spouse is over 65 then the deduction is the amount in excess of 7.5% of your AGI. One of the most overlooked medical deductions is the cost of transportation to receive medical care. These costs include taxi or bus fares, tolls, parking fees and the actual cost of gasoline, or the standard mileage rate (currently 24 cents a mile).
•
Taxes paid – Include the state and local income tax paid in the tax year, real estate tax, and property tax. If you live in a state without an income tax, you can deduct sales tax paid during the year but you must have the receipts to support your deduction.
•
Mortgage interest paid (often reported on Form 1098).
•
Charitable contributions – Contributions may be made in cash or property. If you give $250 or more to an organization, the organization is required to provide you with a statement detailing the donation. Don’t forget you can include out-of-pocket costs that are paid to do volunteer work as well as mileage driven for volunteer purposes.
There are other services available to assist in preparing your tax return. The IRS.gov website was recently updated to be more user-friendly. In addition, you can often find groups in the local community that will assist you in preparing and filing your return. If you have any difficulties in understanding what you need to file your taxes, we encourage you to review the IRS website or reach out to a local civic group for guidance. If you have a more complex tax situation, it may be necessary to contact a tax preparation service or a CPA. 11
| At a Glance |
THALASSEMIA Cooley’s anemia • Mediterranean anemia
Thalassemia is a rare, inherited blood disorder occuring most often in people of Asian, African, and Mediterranean descent. If left untreated, thalassemia can lead to heart or liver failure.
Symptoms of thalassemia include bone deformities, shortness of breath, jaundice, and stunted growth. Having a lower amount of hemoglobin or red blood cells to carry oxygen through the blood stream causes those with thalassemia to become easily fatigued.
Thalassemia can be diagnosed by a blood test which looks for abnormalities in the red blood cells, hemoglobin or general anemia. Thalassemia is classified as either type alpha or type beta depending on the protein deficiency found in the hemoglobin abnormality.
Treatment for thalassemia involves receiving regular blood transfusions and the removal of excess iron from the body. Bone marrow transplants may also help treat this disease.
For more information on thalassemia, please visit: www.helpthals.org www.nlm.nih.gov/medlineplus/ency/article/000587.htm 12
caringvoice.org • Winter 2015 • In Your Words
| In Your Words |
Your words make a difference. Your story matters. (Starting on page 14)
13
| In Your Words |
Taking Control of Your Condition While living with cystinuria, Jennifer O’Connor explains how she found hope through education and proper treatment
P
eople with cystinuria have a genetic metabolic disorder that prevents their bodies from correctly processing cysteine, an amino acid. I’ve met some people who have the disorder and have only had about two kidney stones in their life. I’ve had about 50 different procedures that were stone related. And, there are people who have it much worse than I do, so the spectrum is very broad. Based on the size of the kidney stone, doctors determine if it’s something that can be passed or if it needs to be broken up. A lithotripsy (shock wave treatment) can be done to break up the stone, and very often a stent is used to dilate the ureter and allow the stone to pass. I’ve had 36 different lithotripsies and stent placements. If the stones are in an awkward location and can’t be broken up, sometimes a more invasive procedure is required. I have had 4 percutaneous nephrolithotomies to remove stones. In this procedure, a small incision is made through the back to get to the stones in the kidney and remove them. A portion of one of my ureters was removed because there was so much scar tissue that stones and scopes could not pass through. The procedure actually widened the ureter so it now allows larger stones to pass without having to 14
have other interventions. Some people have kidneys so scarred and damaged that they must go on dialysis. I was 13 years old when I had my first episode. I was in a lot of pain but I didn’t tell anyone. I had no idea what was happening; I didn’t know I had cystinuria. I was about 22 years old by the time I was actually diagnosed. Before that time, I had only a few bouts with kidney stones. But, the stones were never analyzed and the doctors assumed that they were a more common type of kidney stone.
ting better, but my past frustration was that I never knew when it was going to strike. I’ve missed a lot of holidays, weddings, graduations, and other special events. That was really frustrating for me. I didn’t want to just show up and suffer around other people and be miserable. I preferred to suffer on my own at home.
Anytime I’d go somewhere with my family there was always a contingency plan in place in case I had an episode. Holding a job and being reliable was also very difficult. I always went over Both parents have to be carriers of the number of sick days I was allotted, the gene for you to have a chance of in- often using my vacation time when I heriting the disease. The main symp- was sick. tom of cystinuria is recurrent kidney “I look at things from a stones starting at a young age. But, your perspective of gratitude for urine can be tested the things I do have and enjoy.” at any point for high levels of cysteine. Very few people have their very first My condition is much more under stone analyzed. Usually young people control now, and my medication was don’t have kidney stones, so if you have recently adjusted. I haven’t had an epa younger person who’s had multiple isode in the last month and a half, and stones then they should probably be for me, that’s huge. Before, I was havchecked for cystinuria. ing pain every day or every other day. I’ve passed hundreds of fragments Prior to the adjustment in my of kidney stones. The largest, and most medication, I was really working hard recent was 17mm. Kidney stones can to figure out how to make this better. affect your quality of life. I’ve been get- I was on a vegetarian diet to limit my
caringvoice.org • Winter 2015 • In Your Words
| In Your Words | protein intake and I was drinking a lot of lemon water, which helps to dissolve stones. I was hoping it would help me live with the condition better. But, it wasn’t nearly as successful as the change in my medication. Still, it’s crucial to drink plenty of liquids, so I try to drink as close to a gallon of water a day as possible. I’m an optimistic person and like to seek out information and hope, as opposed to commiserating. I want to focus on the 80 percent of my life that is normal. To remain hopeful, you have to empower yourself to be in control of your condition rather than having your condition control you. This entails education and treatment. You can’t bury your head in the sand on this one. You can’t just ignore it and hope it goes away. It definitely doesn’t work that way. Personally, I never feel sorry for myself. There are plenty of people who
have it much worse than I do. So, I look at things from a perspective of gratitude for the things I do have and enjoy.
way to get rid of this condition, but it can be treated with medication.
Cystinuria is relentless. It catches you with no warning. I’m so fortunate to have it under control now. There were definitely times that I was really sad that I was missing out on something, but I never gave up on finding a better way to treat my condition. There is no
going to care for you as much as you’re going to care for yourself. You have to carry your own flag. But if I can help somebody else not suffer, even just for a day, that’s awesome.
A 24-hour urine test can determine how much cysteine is in your urine. My husband has been with me There are medications that can really from the day I was diagnosed. He’s help, but until your levels are known amazing and is a constant support. The doctors are “shooting in the dark” as condition really kicked into gear after far as what levels of medication you I gave birth to my daughter, who’s now need. My medication went from 40 15, which was when it was discovered mg to now 800 mg and I’ve also been that I had eight kidney stones. So, prescribed something that alkalizes the she’s been through all of it with me. urine to make stones more soluble. It’s She and my husband keep a positive made the biggest difference in me to go attitude as well. They don’t make me from suffering with this illness, to now feel bad for what I’m going through, or be living and coping with this illness. putting them through. They’re really People with my condition have to wonderful, supportive and optimistic. advocate for themselves. No one is
Find out if your kidneys are healthy by visiting a free screening near you:
Kidney Health
bitly.com/freekidneyscreening
Your kidneys filter 200 liters of blood every day, getting rid of toxins in your body, controlling your blood pressure, keeping your bones strong, and helping affect how other organs work. Studies estimate that 26 million adults have chronic kidney disease. Currently, there are 350,000 Americans on dialysis and more than 70,000 people are waiting for a kidney transplant. To help keep your kidneys healthy, don’t overuse over-the-counter painkillers, watch your blood pressure, eat healthy, and exercise.
From the National Kidney Foundation: www.kidney.org
15
| In Your Words |
Still Smiling Despite having lupus and pulmonary hypertension, Dwaine Kuhar is still moving, smiling, loving life, and making long term plans. She encourages others to do the same
I
t is just plain good manners to introduce yourself to people you are meeting for the first time. My name is Dwaine Kuhar. I am 77 years old and the mother of five children and a grandmother. Getting us all together at one time would create a sizable carbon footprint. The one common denominator we share is being a beneficiary of the generosity of Caring Voice Coalition. My life was so busy I didn’t pay attention to the subtleties that were taking place in my body. When I was 35 years old, my hair started to thin and became more difficult to manage. Out of desperation and frustration, I succumbed to purchasing a wig— problem solved! At 45 years of age I began to have occasional outbreaks of hives. Since it didn’t appear to be the result of food allergies or the environment, the logical solution was to try to control the outbreaks with prescribed doses of steroids. In the beginning, the outbreaks occurred approximately 4–5 times per year for several years. Most of the time I didn’t feel sick and decided to become more vigilant about my overall health. I became more proactive and decided to eat healthier, exercise regularly, get proper rest and maintain a positive 16
attitude in my approach to life. What happened next was the game changer. In my 50’s I developed pneumonia. About three weeks later, I was up and about. I returned to work and realized my energy level had diminished significantly. Shortly after this episode was when I discovered a red rash that appeared on my face. This rash is known as the Lupus mask. I didn’t allow this condition to get the better of me. With the help of a concerned and committed doctor, I was able to maintain a feeling of reasonably good health. My mantra became “keep moving”. This is what I did until 2 ½ years ago.
until I couldn’t do anything. I was just lying around. I didn’t have an appetite and my bones and joints hurt. My quality of life was almost nonexistent. I took my first dose of PH medication in January 2015. At first I didn’t see any significant changes, but, about four months after I began taking the PH medication I began to notice some positive results. I’m up and walking around again. I don’t know where I would be if I didn’t have the PH medication. I went from being vegetable-like last October, to being able to make dinner for my family, do some
“Take time to look into At that time, I was exhausted and went to the doctor. She the mirror at yourself. took one look at me and within Smile at yourself, you may a matter of five minutes I was in even laugh at yourself.” an ambulance and on my way to the hospital, where I remained for three days. I experienced my light laundry, and occasionally baking second bout of pneumonia. After my release from the hospital, my doctor cupcakes. Now, when I do these things, recommended that I see a pulmonol- I’m up for about 10 minutes and then ogist. At that time I was still breath- I need to sit for a while. My quality of ing on my own, but I was experienc- life and my breathing has improved. I ing shortness of breath. Within a few am still on oxygen but that’s okay. I have found several things that months the doctor put me on oxygen around the clock, 24 hours a day. I are very good for my condition, such started getting more and more tired, as singing. I sing my heart out. I sing
caringvoice.org • Winter 2015 • In Your Words
| In Your Words | the old hymns; I take deep breaths and then blow out all the air I can on the amen. And all of that helps so much. One of the other things I’ve found helpful is to stand and hold onto a chair and play some music and start tapping my toes and move my hips. Just moving a little bit works. It absolutely works. It brings my energy level up and my mind is more alert. I feel like doing things and I want to interact more with people. Two of my favorite songs are “Smile” and “I’ll be seeing you.” They are two of the most beautiful songs and motivators because they offer hope and vision. I can’t say I walk around singing and smiling all day long; I have my moments of sadness. That’s okay. I just work through it. We have to have a little bit of sadness in order to realize how great it is to be happy. If I sit and frown all the time no one is going to want to bother with me. Smile, it doesn’t hurt. Just be positive. And above all, start loving people. What you do really, truly matters. That’s just the way I am. I take my PH medication, I sing, I exercise with lightweight dumbbells, and I’m up to walking a quarter way around the block and back. I gained 50 pounds when they put me on steroids and I’m still trying to lose it. It’s not vanity, it’s the fact that the weight affects my health. It makes my joints hurt and I can’t breathe as well, so I’ve changed my diet. I’m eating more organic foods, fish, chicken, fresh fruits, vegetables, and less salt and sugar. I absolutely must set goals for myself. I never let a lot of distance get between myself and any problems from my condition. My inspiration comes from getting past that personal pronoun and avoiding self-indulgence. I have a long green
lifeline, my oxygen line, and it gives me 75 feet to walk around the house. I still want to be able to do things. I still want to be able to contribute to my family. I live with my daughter; she’s a wonderful person. I love to see a child’s reaction when they look in the mirror. They laugh and giggle at themselves. Take time to look into the mirror at yourself. Smile at yourself, maybe even laugh at yourself. That tickle inside doesn’t go away quickly, it’s like an itch. You’ve got to keep it going. There are some days that it takes me a little bit longer to get out of bed and get going, and I’m probably never going to be oxygen independent; however, I’m never going to stop fully living each moment that has been given to me. I don’t care if I have a few aches and pains here and there. They remind me that I’m still alive. I want to keep going. That’s the one area of my life where I’m selfish. I want to know what my grandchildren are accomplishing. I want to be able to walk, even if it’s just 10 minutes at a clip. Modern medicine provides so many opportunities. There are so many places you can go for help. Call upon your loved ones and let them do the things that they want to do for you. Don’t be shy about telling people how you feel, but don’t drag them down into the doldrums. Tell them how much it means to you to just have them sit and listen for a little bit or to have a nice conversation. It’s okay to be honest and say how you’re feeling, but then get past it and always know that you’re not alone. Remember to smile, love, make plans and keep moving. I am already making plans for spring. Long term plans have a way of keeping my focus on the future. Remember, you’ll find
that life can be worthwhile if you just smile. Look forward to the future and keep making plans. Yes! I’m a blooming optimist. It’s just the way I am.
Pulmonary Hypertension High blood pressure in the lungs is called pulmonary hypertension (PH). PH is a chronic and life-changing disease that can lead to right heart failure if left untreated. PH patients experience symptoms such as shortness of breath, dizziness and fatigue, and the severity of symptoms usually correlates with the progression of the disease. While there is currently no cure for PH, different treatment options are available to help you manage your disease and feel better day-to-day depending on your type of PH.
For more information, or to seek help with pulmonary hypertension, contact the Pulmonary Hypertension Association: 801 Roeder Road, Ste. 1000 Silver Spring, MD 20910 (301) 565-3004 www.phassociation.org
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| In Your Words |
Soldiering On Jody Wright refuses to give up on the life she loves, despite her battles with breast cancer, Parkinson’s disease, and neurogenic orthostatic hypotension
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’ve had Parkinson’s disease for quite a while, but it wasn’t until recently that I was diagnosed with neurogenic orthostatic hypotension (nOH). I’ve always had low blood pressure, but many people with Parkinson’s have nOH. It is a process of the brain losing more and more control over body systems. I was diagnosed with Parkinson’s in 2003, the same year I was diagnosed with breast cancer. It was a tough year, but we got through it. I actually had Parkinson’s symptoms when my daughter was born, but just didn’t realize it then. My neurologist told me I’ve probably had Parkinson’s for at least 20 years, and maybe even closer to 30 years. When I got married at 32 I had no sense of smell and that’s often one of the first signs that people don’t recognize. I try to be proactive with my condition because it’s very important for me to stay mobile. I’ve always made an 18
effort to stay active, but when I started to fall a lot I went to my neurologist and asked if I could see a physical therapist. I thought the fainting and loss of balance was from Parkinson’s, but it was actually from the OH. I realized once I got my blood pressure stable I stopped falling. When I would stand up my blood pressure would drop as much as 50 points. If you drop 10 points that’s a sign of a blood pressure problem. I’d go from 110/90 to 85/45 upon standing. It was drastic. My daughter told me she thought I had nOH. She’s the one who brought it to my attention and pushed me to ask my doctor about it. I asked her to do a phone conference with the doctor and me because I felt it was important to include her. She was feeling anxious about it because it is often associated with Parkinson’s and I wanted to alleviate her concern. My doctor is wonderful, and she was able to ask him questions that he took time to answer. I had the nOH symptoms probably four or five years before being diagnosed. I often attributed these symptoms as possible side effects from my medications. Like my doctor said, I’m
caringvoice.org • Winter 2015 • In Your Words
complex to treat. I’m hypersensitive to certain medications and I have different health conditions. If someone feels that they might have nOH I recommend tracking your blood pressure and taking that data to the doctor. I have to take mine three times a day, sitting and then standing. I’m pretty disciplined about maintaining my health and my mobility. I used to be a teacher so I’m used to staying organized and active. I retired early because it became too much with the Parkinson’s, and my health improved a lot afterward. I’ve been on medication for nOH for close to a year. It’s made a big difference. I didn’t realize how much the low blood pressure was affecting me until I didn’t have the symptoms anymore. I still have to track my blood pressure and be careful. I still have episodes, but it’s not every day. Before, the whole room around me would go black. I didn’t realize how bad it had gotten until it was under control. I wonder how I managed for so long. My nOH symptoms were worse early in the morning when I was getting up. I would feel heavy or stiff in
| In Your Words | my neck and shoulders and my vision would be blurred. That’s gotten better since I’ve been on medication. I was worried about breaking a bone from falling because I had a lot of chemotherapy to treat the cancer, and I also have osteoporosis. That was a big concern for me. This disease is very serious and can be a deadly disease. Having your blood pressure drop 50 points is dangerous. I actually fell down a flight of steps one time and ended up with 10 stitches in my head. Aside from medication, tracking my blood pressure, increasing my salt intake, and staying well hydrated helps me. Awareness is really the best thing you can do for yourself. Because I’m aware, I’m cautious with my activities. I know the symptoms now when my blood pressure is too low: tightness in my neck and shoulders, dizziness, fatigue, blurred vision, foggy mind, and feeling sluggish.
“My daughter told me she thought I had nOH. She’s the one who brought it to my attention and pushed me to ask my doctor about it.”
(Above) Jody Wright and her daughter, Chandler. (Opposite page) Jody, Chandler and Don Wright.
I’ve always wanted to set a good example for my daughter. I didn’t want her to view me as sick. I didn’t want the world to see me as sick. So I just soldier on. It’s important to me to be an involved mom and spouse. I have a life that I enjoy and I’m not willing to give it up. It’s really important to have my daughter look back and view me not as a mother with health issues, but rather a mother who was a good role model for her. I really believe that life is about choices and you choose how you’re going to live it, no matter what you’re faced with. Sometimes it’s hard but you just have to soldier on. That’s my motto. I have a wonderful support system. Not only do I have a great husband and daughter, but I’ve also got a great community around me. I’m very, very lucky. For anyone facing an illness, I think the most important thing is to make sure you have a good support system. I think you need to let go of anyone who isn’t supportive. Although it’s hard, you have to put your own care first. You must take care of yourself first before you can take care of anybody else. I think that’s hard for mothers, and women in general, because we tend to put the needs of our families first. It may feel selfish, but you have to get past that. It was hard for me. I have to think, what’s best for my care? It’s hard, but if I have to say no, then I have to say no. Whenever you’re dealing with a chronic disease I think it’s also important to be aware of research. I would seek out hospitals and doctors that are research-based. You have to be educated on your condition because you have to be your own advocate. And you have to give yourself permission to take care of yourself first because you’ll pay your
orthostatic hypotension is a decrease in blood pressure within three minutes of standing when compared with blood pressure from the sitting position or lying down. It results from an inadequate physiologic response to postural changes in blood pressure. American Academy of Family Physicians (AAFP) Learn more at: aafp.org
family back 100 times. There’s no reason not to be an informed patient. It’s good to have someone else with you at your appointments and always go prepared with questions. It’s a lot to process. The information comes so quickly and it’s so shocking and overwhelming; it’s a lot to process. To help care for my total well-being I exercise religiously and stay active socially. I make an effort to stay involved. I have really good days, but then again I have days that are difficult. I’ve had to substitute certain activities. For instance, I had to give up tennis, but I picked up swimming and I enjoy riding a tandem bike with my husband. You have to really take charge of your health and your life. You have to adjust. It’s easy to give in, but I don’t want to give up and give in. It’s my nature not to quit. One day, I really want to walk in my daughter’s wedding and hold my grandchildren. I envision that and it keeps me going. It’s a goal. I may not make it, but my chances are a lot better if I set a goal and work towards it. 19
| In Your Words |
Kelley and Don Thorson share how they became advocates for Phelan-McDermid syndrome after their son, Kyle, was diagnosed with this rare disease
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ur son, Kyle, was born in 1993 with a genetic condition called Phelan-McDermid syndrome (PMS) or 22q13 deletion syndrome. This disorder is caused by a disruption or deletion at the end of the 22nd chromosome and has been linked to autism, developmental disability, and delayed or absent speech. When Kyle was a baby, doctors thought he might be blind and deaf, but we later discovered that was not the case. As he grew, we noticed Kyle had low muscle tone, was slow to reach developmental milestones, and took longer than expected to begin talking. Doctors gave him a broad diagnosis of “global delay.” Then, when Kyle was 5 years old, we found a very knowledgeable and compassionate neurologist who performed genetic testing on our whole family. The test results revealed the chromosome deletion and we finally had an accurate diagnosis. Since we had never heard of PhelanMcDermid syndrome (PMS) or 22q13 deletion syndrome, we started researching as much as possible. At that time, not much was known about PMS because reliable gene testing did not begin until 1998. But, one of 20
(Above) Kelley, Kyle, and Don Thorson. Playing soccer is one of Kyle’s favorite pastimes.
Kyle’s doctors told us about the PMS Foundation and the genetic research initiatives that were underway.
maining proceeds from the sales of the awareness Angels are sent to the PMS foundation for research.
We’re very supportive of clinical trials and find it very exciting that research is being done to learn more about the disorder. When we went to our first PMS Foundation conference, we participated in a clinical trial that determined Kyle’s chromosome deletion size. He is also missing the SHANK3 gene, which plays an important role in brain development.
Last year we began selling the angels at vendor shows. Kyle’s barbershop also has a display and sells the awareness angels which has helped spread the word about PMS. When someone walks in and asks about the Angels, those barbers talk to their clients about Kyle.
We think huge progress is being made. Just 7 years ago no one knew what 22q13 even was. And now, it’s one of the leading research studies. The progress is phenomenal. It’s directly related to the driving force of the PMS Foundation. To help raise money for research and generate awareness of PMS, we’ve been creating and selling “Kyle’s Angels” for about six years. Proceeds from the holiday sales of the handmade angel ornaments fund Kyle’s Angels Scholarship Program, which helps other PMS families attend the PMS Foundation conferences. The re-
caringvoice.org • Winter 2015 • In Your Words
When we’re out selling Kyle’s Angels and sharing information about PMS, we tell Kyle’s story to every single person we can. I explain to them how rare this syndrome is and what Kyle’s symptoms are such as he’s nonverbal, autistic, he has seizures and reflux. People often ask about children with this syndrome and I always say “some children can speak, some have very limited language and some are nonverbal. Not every child has seizures, but some children have far worse symptoms than Kyle”. We love it when people ask questions about Kyle. We feel we’re sharing Kyle with them, and we are able to continue to spread the word about PMS. I
| In Your Words | explain that Kyle isn’t consistently potty-trained, he doesn’t always eat with a spoon and fork, and we continually have to remind him to do things. He doesn’t always remember to do his chores on his own, but he does have chores. His favorite chore is doing the dishes, which he does every single morning. He doesn’t always remember to do the laundry so we’ll remind him. Some days he doesn’t want to do it and he’ll say, “Neh.” So we’ll do it for him that day. Sometimes he chooses to take out the trash instead. We’ve never let Kyle’s condition bother us. We’ve been given the opportunity to raise a special needs child and we are blessed to have Kyle. We look at it this way: there are so many other people in the world who have greater burdens than we do. Kyle is not a burden to us. Our home is normal to us, even if someone looking in might not think so. We’ve gone through some really tough times with Kyle and his regression, but we do the best we can. When you get through those tough moments you recharge and wait for round two. That’s how we do it. We have our rough moments and our diamond moments. We look forward to our diamond moments, like when Kyle walks through the door and gives us a big hug, unasked for, when he stands at the window watching you walk up the walkway and he claps and yells when you open the door because he’s so excited to see you, or when he wakes up in the morning and gives you a kiss. Those are amazing moments that fill our hearts with joy. Kyle loves to kick a soccer ball. He is just learning and laughs and claps when he scores a goal. His other favorite sport is basketball. He will shoot
hoops until the sun goes down. He also loves water, swimming, and riding in the car. It doesn’t matter where he’s going it’s the adventure that he enjoys. Kyle is a very happy person and loves to throw up a high five to everyone he meets. Kyle also hands everyone a gift. Imagine it this way: Kyle with his thumb and finger tips pinched together holding them out in front of himself towards you. That is Kyle handing you his gift. It is imaginary, but we call it a piece of Kyle’s heart because he is sharing something with you that he wants just you to have. We say to people, “Kyle has a gift for you that he would like for you to place in your pocket.” That is why instead of calling it something imaginary, we say Kyle is sharing a piece of his heart with you. That makes him happy. Special needs children are just normal children. They have special needs, just like any other child, and they shouldn’t be viewed as different. Yet, society seems to want to push them all into a corner and try to forget about them. They should be given the same amount of attention as all other children, but for some reason they’re often the forgotten ones. If you don’t have a diagnosis for your child, genetic testing is important. Insurance doesn’t always pay for it, but it’s a vital step in finding a cure for our children. In order to prevent future occurrences of PMS, or other rare conditions, we need to find the cause and find a cure. We understand that our child probably won’t benefit from the research being done right now, but future children will, and getting people to understand that is difficult at times
because they don’t live it. It’s hard to explain PMS and having a PMS child to certain people because they’ve never had an experience like this in their lives. I think that’s why we’re so fortunate. We’ve met people who have opened up and been receptive. We’re only a couple thousand strong in the PMS community so far, but there are so many other children out there with this syndrome. Unfortunately, the older these kids get the less likely they are to get tested. For so long, many children were labeled with the blanket diagnosis of “global delay”. Now through genetic testing, doctors are able to find underlying conditions. That’s how we’re finding the older generation of people with PMS. We think it’s fabulous what genetic testing can do. Research is the key. We need to fund more research as a society and find answers, for our child and for future children. We can do this.
Kyle’s Angels Kelley Thorson sells angels like the one pictured here to help raise money for research of PMS. Proceeds from sales go to the PMS Foundation and the Kyle’s Angels Scholarship Program. To learn more about Kyle’s Angels and order your own, visit the Kyle’s Angels Facebook page at:
bitly.com/kylesangels 21
| In Your Words |
The Power of a Positive Mind When Lancin Choate was diagnosed with pulmonary fibrosis he resolved to help himself by keeping a positive attitude and taking control of his health Top row, left to right, Lancin Choate with his wife, Stephanie; daughter, Stacey; and son-in-law, Chris. Seated, left to right, granddaughters Christina and Stephanie. Choate says this picture represents the reason he has a positive attitude. Everyone in this picture has been by his side and offers their assistance when he needs it. “They have been a true inspiration to me, especially my wife,” he says.
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found out I had pulmonary fibrosis in 2012. At that time I wasn’t sure exactly what was happening, or what it was all about. When you go through something like this, when it hits you upfront, you don’t know what to do or where to go. It’s a shock to your system; it’s a shock to your family. I was raking around our garage one day and after a short period of time I found myself getting dizzy and it was hard to breathe. I was getting light-headed. I had just gotten over pneumonia and I thought it had something to do with that, but I started noticing that just doing simple daily activities was causing me to get dizzy, light-headed, and feel like I was blacking out. I knew something was wrong. So I made an appointment with a pulmonologist. After I saw him he wanted me to go have x-rays and an MRI on my chest, which showed that I had spots on both lungs. After having a number of tests I went to the hospital and had a pulmonary bronchoscopy and at that time I was diagnosed. It really threw a scare into me. I had no idea what was ahead of me; I didn’t know how serious this was, or anything about it. 22
This disease has really slowed my ability to perform certain tasks. I used to do many things without any problems whatsoever, but now I must rely on my family. My daughter and my wife help me out considerably on the chores. The doctor diagnosed me with limitations as to what I can do. In the past couple of years, I’ve found that cold and damp weather really affect me. It can make it difficult to do much of anything, even walking. Also, when it’s very hot and humid it affects me the same way, I get short of breath and I slow down. So, I have to pace myself. I’m taking a new medication now, and I think with the combination of exercising it has helped me. When I exercise I use my oxygen and can now walk up and down the stairs without having the feeling that I’m going to pass out. I’m still out of breath, but I don’t have the light-headedness that I had before. When I first started experiencing symptoms I would almost black out. It was frightening. Before I developed this pulmonary problem, I loved working, and when it began to affect me I really didn’t know what was happening. Around the same time, my brother-in-law developed a
caringvoice.org • Winter 2015 • In Your Words
breathing problem, too. His diagnosis was mesothelioma, which was deadly. It took his life in a matter of months. That really, really scared me. After I had the bronchoscopy, the doctor told me that my condition could get worse. So I thought, “I’ve really got to do something to prevent my health from getting worse.” I said to myself, “You’ve got to help yourself and you’ve got to do it now, and try not to get depressed.” Keep a positive attitude and do what you feel you can do. Don’t push yourself to the limit, or to the point where you might pass out, take one day at a time. That’s the route I took and I’m finding out that by following that, and having a positive attitude towards this disease has helped. This is the biggest battle I’ve ever been up against. Not everyone has the same breathing disease that I do, but if you don’t take control of your illness, it’s going to get the best of you. You are the one that’s got to try to control it and make yourself better if you can. You’ve got to have a positive attitude to fight your disease. When I realized that I needed to make a change regarding my health, I took part in a pulmonary rehabilitation program. It was very informative; I learned so much. I walked on the
| In Your Words | treadmill at this rehab, and my oxygen levels were monitored. Everything was done systematically and recorded, and the information was reported back to my pulmonologist. This, I believe, was my turning point in reference to helping myself. It was the starting point of me getting back to breathing a little easier. My condition could be a lot worse than it is, I could be bedridden or not able to do anything. So, I look at it from a positive perspective and pace myself. Having the support of my wonderful family and friends is also very important to my being able to cope with this condition. It helps a lot having them. If you have an illness, try to keep a positive attitude and try to do some things that will help you maintain your
health, such as mild exercising, if permitted by your doctor. In my case, I was able to lose 50 pounds which helped improve my breathing capacity. When a person finds out that they have a serious health problem like mine, many things go through your mind on how to cope with it. I’m able to cope with the support of my wife, my daughter and son-in-law and my two grandchildren. It puts my mind at ease to know that I can count on them when I need them. You don’t need extra stress when you’re going through something like this. My wife and I love our grandchildren, and ever since they were little we’ve loved watching their soccer and basketball games. It’s part of our life and
something that we can do together. We do it because we love to, and it gives me inspiration to go and see them. My wife and I have said we never thought we could love our grandchildren as much as we did our daughter, but I’m telling you, as a grandparent, you love them to pieces. Aside from spending time with my family, I enjoy doing simple household tasks, and I’m very interested in astronomy and deep-sea explorations by Robert Ballard, which I read about on my iPad. I’ve offered to talk at support groups and I’m willing to talk to anyone who reads this that I might be able to help. It’s difficult for a person to go through a frightening diagnosis like this, but maybe I can help someone with my story.
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| In Your Words |
For better or worse Winn White and his wife Harriet have supported one another through many illnesses, most recently Huntington’s disease. Through it all, he says he’s learned the most important ingredient of caregiving is love
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y wife, Harriet, was told that she had the Huntington’s disease (HD) gene in 1996, and it was declared active in 1998. Harriet’s mother was committed to a nursing home in the late 1980s where she lived until her death in 1994. At that time Harriet and her brothers and sisters decided to get tested for the HD gene. All five siblings tested positive. One of her sisters, as we understand it, was affected with all the bad attributes that tend to come with HD, and she is now deceased. Her other sister is still alive, as is one brother, but due to other problems it is hard to tell what effect HD has had on him. Her other brother lost his wife to cancer and without her support he basically gave up fighting for survival. Watching all of this transpire with her siblings was difficult for Harriet; she didn’t expect to live much longer, especially since she was the oldest of the five children. But her battle with HD is a little different. She was willing to learn more about it, seek out a support system, and fight it with everything she could muster. She and I began attending support groups. We 24
read books on the disease, consulted specialists, and spent hours on the Internet reading about it. As an HD caregiver I’m not going to say that life is easy, because it isn’t. I have had to watch the woman I love, a highly intelligent woman who went through college on the dean’s list, the mother of our children, slowly become someone who at times cannot remember her own name, and sometimes can’t remember who I am. The biggest challenge is trying to retain my own sanity during this, and trying to display a positive attitude for her. The biggest reward is waking up next to her each day, knowing that she is still with me. I have been told numerous times that I should put her in a nursing home and move on. Well, she didn’t do that to me when I was fighting cancer. She has spent our entire married life being a first-class supportive spouse, and therefore should be able to depend on me to do the same. I try to remind people that 47 years ago we stood before a preacher and before God promising to be together through sickness and health, for richer or poorer, for better or worse, ‘til death do us part. We took
caringvoice.org • Winter 2015 • In Your Words
Winn White and his wife, Harriet.
that oath seriously, and will continue to do so. Now, as a caregiver, I have to do all the housework, I have to do the shopping, and I have to bathe her and care for her. At 70 years old this can be quite tiring. But, we are together, we are alive, and there are days where things are almost normal. We try to live for those days, and forget the rest. I cope by taking it one event or day at a time, ignoring the bad days, and living for the good ones. We still do everything together. I keep her as involved as I can. One of the biggest differences between the way we look at health and the way others tend to is that we listen to our doctors and follow their instructions to the letter. I have diabetes, I’ve had a heart attack, and at one time I had stage 4 cancer of the esophagus. I survive simply because I have to. Harriet and I are Christians, so I ask God daily for the strength to go on. So far
He has given it to me. I spend a lot of time researching HD and the various illnesses that we both battle, and I inform the doctors of my findings. Caregivers need to accept their responsibility to make sure that the doctors are doing all that is available to treat this devastating illness. Caregivers must continuously remind themselves that they are no good to anyone if their health becomes so bad that they cannot function. They need to concentrate on staying well with the same amount of zeal they use to care for someone else. The balance isn’t just important. It is imperative. To put it in simple terms, I have to maintain my health, so I can help Harriet maintain hers. The most important thing for caregivers to know is that they are everything to the person they care for. Their normal world has disappeared, and you are their new world. But, your normal world has gone away too, so you have to do everything you can to maintain a life of your own at the same time. I do this by going online and talking to old friends and to other caregivers. My experience with HD has taught me that in a flash your entire world can fall apart, and that putting it back together requires a lot of work. I’ve learned that the major ingredient of caregiving is simple…LOVE! I don’t take care of Harriet because it’s my job. I don’t take care of her because I need her, or because she needs me. I take care of her because we love each other, and promised each other that we would always be there for each other. How do we enjoy and celebrate life? We do it together!
Huntington’s Disease (HD)
Approximately 30,000 Americans have HD, but the devastating effects of the disease touch many more. Those at-risk may experience tremendous stress from the uncertainty and sense of responsibility. For more information, or to get help with HD, contact: Huntington’s Disease Society of America 505 Eighth Avenue / Suite 902 New York, NY 10018 (800) 345-HDSA www.hdsa.org
| In Your Words |
Lisa Wagner describes how she found purpose in life after years of varying illnesses that eventually led to a myositis diagnosis
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n 2007 i was diagnosed with dermatomyositis, a form of myositis that affects the skin. It took almost seven years and countless doctors to get a diagnosis. My symptoms started after the premature birth of my second daughter, Hope. The first symptom was pain and swelling in my right knee. Then my stomach wouldn’t stop hurting. Two doctors and three hospitals said it was postpartum depression. Shortly after Hope came home I woke up one day a lovely shade of green. My spleen was enlarged and almost ruptured. I was in surgery the next day. My spleen was black and huge but the pathology report showed no cancer. So, no one felt the need to find an explanation. The swelling in my knee continued and the pain was spreading to my hip and ankle. Then the left leg followed suit. From 2001 through 2005 I became increasingly ill. I had trouble sleeping, my hair was thinning, I needed a cane to walk and I was always getting sick. I had a hysterectomy because I kept developing benign, but painful, tumors and cysts. My family doctor put me on a carousel of specialists. I was so confused and none of them were talking to each other. My heart was enlarged and something was wrong with my blood. I had pernicious anemia and tested 26
positive for human parvovirus and Lyme disease. I went through a year of infusion therapy and heavy antibiotics thinking my symptoms would improve. I kept begging for someone to look at me as a whole person, to examine ALL of my symptoms and find a cause. I was developing horrible sores that were intermittently erupting on my arms, chest and face. All of my joints were swelling and aching, and I was gaining a lot of weight. By 2006 I was too weak to work. Not long after, I was too weak to get out of bed. My lungs were filling with fluid, my heart rate was out of control and I was in constant pain. One day in 2007 my daughter, Sarah, took me to a medical center. I was almost bald and believed I was dying. The doctor noticed the sores on my arms and chest and asked me how long I’d had them. He asked permission to biopsy one of the skin lesions. He said he’d seen pictures of these sores before and he might know what I have. For hours I stayed hooked up to IV fluids while the doctor compiled my records. He was earnestly trying to get a neurologist on the phone and said he was certain I had an autoimmune disease called dermatomyosits. The rheumatologist confirmed the diagnosis. Treatment for myositis is
caringvoice.org • Winter 2015 • In Your Words
hit or miss. I was fortunate to have a doctor who was knowledgeable about my disease and he helped me develop a health care team. Unfortunately, by the time I was diagnosed the disease was in my heart and lungs and my prognosis was grim. They gave me seven months to live. I was taking morphine for pain, anti-rejection meds and heavy doses of steroids. I gained over 150 pounds, lost my hair and teeth and needed a wheelchair. I was dying. I was no longer myself, I was dermatomyositis. Well, I made it seven months and then some. But it wasn’t until Sarah was pregnant with twins in 2010 that I started to improve. The twins came early at only 24 weeks. Her beautiful little boy, Michael, died in the NICU a month later and there was little hope that Hayden would make it. I was no longer content with waiting to die. I watched those one-pound babies struggling to survive and I knew I was going to have to do the same. The stress was too much for my husband. He left me shortly after the death of our grandson. It was this profound despair that turned things around. Hope was 11 years old and Sarah was a new mother, Hayden was fighting for her life in the NICU, and we were all grieving the loss of little Michael. It was the first time in years
| In Your Words | I felt needed. I remembered the most important purpose of all: I’m a mom. The first step was taking control. A pillbox was a lifesaver! No more missing doses or doubling up. We forget how dangerous these medications are and how important it is to take them exactly as prescribed. I was coming out of a four-year fog and I refused to accept my grim prognosis. My team of doctors were pleased with my turnaround and we developed a treatment plan to help me live with dermatomyositis. It’s amazing how much a positive attitude can affect your health.
she was still there for me. I started knitting little hats for the babies in the NICU. I remembered how good it felt to help others. I also started volunteering at the South Carolina Aquarium once a week. Hope had to help me dress and do my hair and I was aching and exhausted after a three-hour shift, but it was amazing. I was in the world again. Things got better, but I still had to push through the pain every day. My doctor mentioned a one-time, 12-week treatment, which showed promising results with dermatomyosi-
“I was coming out of a four-year fog and I refused to accept my grim prognosis.”
(Left): Lisa Wagner when she was most ill. (Right): Lisa Wagner this year. Her pain and fatigue are still a constant battle but she isn’t letting dermatomyositis define her. Dermatomyositis had cascaded into many other diseases like Type 2 diabetes, Sjogren’s syndrome, supraventricular tachycardia (SVT), insomnia, sleep apnea, gastroesophageal reflux disease (GERD) and interstitial lung disease. My enemies were multiplying. Sarah and Hope were my lifelines. With all Sarah was going through,
tis patients. I was elated until I saw the price tag. Even with my insurance the medicine copay alone would have been in the tens of thousands of dollars. That’s when I got a phone call from Caring Voice Coalition (CVC). A few weeks later, a shipment of the medicine was at my door. I’m pleased to say I am feeling better. My lung function
is good, my heart rate is under control and the skin lesions are fewer and farther between. I will always have dermatomyosits, but it will never again define me. Dermatomyositis cost me a career, my marriage and about six years of my life. It’s hard not to be bitter. It’s a mortal enemy that you can’t see or touch. The pain and fatigue are a constant struggle. The biggest challenge, both now and then, is psychological. When you suffer from a chronic illness it’s easy to let the pain and despair take over. My life is so wonderful now and I have to remind myself of the happy things. I get so excited when I’m having a good day that I sometimes try to do too much. Pacing yourself is not easy when you’ve spent a few years in bed. I still struggle with sadness and only time will help me overcome that. I cope by having a purpose. I still experience pain and swelling and, especially if I’m not careful about sunscreen, I still get skin lesions. I strictly manage my medications, keep my doctors and lab appointments and stay busy. I have people who need me and that keeps me going. I try to know my limits and rest when I need to. Instead of focusing on all that I’ve lost because of dermatomyositis, I focus on all that I’ve gained. I don’t know how much time I have left, but I will make the most of it. My experience has taught me the importance of being your own advocate. You have to take control of your illness and never give up. My advice is this: knowledge is power. Learn all that you can and keep learning. Find a team of doctors that are willing to work together and take an active role in developing your treatment plan. Most importantly, never give up! 27
| Caregiver Q & A | Being a caregiver pushed me to further my education. I became a certified phlebotomist. I took several patient care classes and learned how to care for wounds and the proper disposal of medications. All of this helped me to take better care of my mom. I hated that my mom was sick, but it was nice to spend so much time with her and my sister. I didn’t consider it a sacrifice at all. I actually thought of our family as normal. It’s just what we do for each other. Sarah McDonald reflects on her time as a caregiver for her mother, Lisa Wagner
What was your mom’s diagnosis with myositis like for you? Each day I saw my mom getting sicker and there was nothing I could do. Every new appointment there was hope that we would find answers but we always left the same way, with nothing. One day her doctor decided that day would be the day that he found out what was wrong. We spent almost eight hours in the office with him while he ran test after test and called to consult other doctors that were states away. We ended the day with him being fairly certain that this was a rare case of dermatomyositis. We finally had a name for what was wrong, but what then? How do you cope with the challenges associated with being a caregiver? What are the rewards? The challenges of being a caregiver are both emotional and physical. When mom first got sick I was a young teenager. I had to help her, and raise my little sister. I didn’t mind taking care of her and I love my little sister like she’s my own child. 28
Now, I am a caregiver of two toddlers. Luckily I live only a few minutes from my mom. Sometimes it’s hard to load up the kids and pick up my mom and sit in a doctor’s office for hours with two toddlers. I still feel lucky to be able to spend time with her, though, and that is a big reward for me. What recommendations and advice can you offer another caregiver? Remember how important you are. Being around someone with a chronic illness is not easy; it’s heartbreaking and very hard work. You have to make sure you make time for yourself every day, even if that means just getting in the car with the windows down and music up and just enjoying the wind in your hair. You have to take little moments to keep your mind and body healthy and happy. What has your experience with this illness taught you? First of all, this illness taught me the importance of family. I know there is nothing we can’t face as long as we have each other. I’ve also learned about a silent illness. My mom was very sick and it took too long to get her the help she needed. You have to keep searching
caringvoice.org • Winter 2015 • In Your Words
and not give up. If you know someone suffering like my mom, you have to educate yourself in order to keep them healthy, safe and comfortable. Finally, I learned not to judge a book by its cover. My mom is doing so much better, but she will always have dermatomyositis. I hear people saying she must be fine now because she looks great. I know they mean well, but it’s hard because I know inside she is still in a lot of pain, but she pushes through for us. You don’t know what a person is suffering with just from their appearance. What is most important for people to know about myositis? It’s rare and very few people know of it. I wish there was more awareness about the disease. I believe there are a lot of others out there suffering every day just praying for answers and they are not getting them because no one knows about this disease. I worry about having it myself. I would love for a doctor to take my mother’s medical history seriously when evaluating me. How do you and your mom enjoy celebrating life? With our family, we spend all the time we can together. We love being together and we never run out of things to talk about. My fondest memories as a child were the adventures my mom would take me on and now I get to do these things with her and my children. Mom could always make the simplest outing an adventure. I lost that mom for a long time and I’m so glad to have her back. Now I can watch her teaching the girls to fly like a bird on the beach or finding “treasures” on a nature walk. I cherish the time because I know that one day she won’t be here.
| In Your Words |
Finding Your Joy Miabella Mojica shares how she finds freedom from the daily struggle of chronic illness through support networks and creative healing practices
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verybody learns from their own struggles as well as others’, so I want to share my story in hopes that you might learn from it. I have a unique mix of chronic diseases: narcolepsy with cataplexy, fibromyalgia, and sciatic nerve pain in my lower back, hips, and legs. Many say that the first two are incurable, however I believe there is another answer. I believe in freedom. Freedom comes to you when you find what it is that you love, and you do it. It’s there when you spend time with the people you love. Mostly, you feel freedom when you find what it is that you love about yourself. It has taken me awhile to get there. My biggest daily struggle is getting out of bed. Everything thereafter is a challenge. I recently read “The Spoon Theory” and I can relate. I recommend it to anyone dealing with chronic disease. Though I am highly motivated, I have to fight to find the physical energy to brush my teeth, shower, prepare meals, eat and clean; and the pain can keep me from finishing seemingly easy tasks. My symptoms began when I was a kid, and they were indescribable.
Nobody knew what I was dealing with. My family thought I was depressed because I took it hard when my parents split up, but that wasn’t it. Though I looked healthy, I was exhausted all the time. The only moments I felt alive were at the neighborhood swing set. I’d swing as high as I could and dip my head back ’til I was upside down, and pull myself back up to feel the butterflies. Then, I’d jump with just the right timing to fly across the playground. Only the sheer rush of adrenaline could wake me up. Everything wore me out, especially school. I couldn’t keep up in any team sports. In P.E., while everyone played softball, I sat in a clover patch and made flower necklaces for my friends. It was weird to wake up tired every day. I often told my mom I was sick, but I had to drag myself to school anyway. I wanted to sleep through homeroom, but with all the people around, I zoned out instead. I hid my head in my arms on the desk and cried. I felt ashamed because I didn’t understand that the tears were from fatigue, so I learned to cry silently. I think I hid it well.
Contrary to mainstream belief, many narcoleptics have trouble falling asleep. Growing up, I would lay in bed for hours, willing my brain to turn off. I’d count to 100, then by 2’s, 3’s and 5’s, and start over, counting backwards. When I finally fell asleep, no person or alarm could wake me. I would sleep walk and sleep talk, and my dreams robbed my rest. I always knew when I was falling asleep because I’d begin to hallucinate. I would start to float away in wonderful, lazy circles, rising slowly like a ride. I’d hear strange sounds, see moving shapes, then slip into a Technicolor lucid dream that would last all night, and I’d remember it when I woke. Some dreams were awesome because I flew through clouds, surfed rainbows, and went anywhere I wanted. The rest were violent nightmares. I ran for my life through bizarre landscapes to escape from ugly, inhuman stalkers. To make it worse, I was completely aware of my dreams so I’d wake myself up only to find my body paralyzed. For minutes at a time, I’d lie in bed, unable to blink, Continued on page 30
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| In Your Words |
A photograph of a dog in British Colombia, taken by Miabella. It reminds her of the joy and freedom that living near the ocean brings her.
scream, or even breathe. I had no idea what was happening and thought that I was dying. Many years later, I found out it’s a real thing: a narcoleptic phenomena called sleep paralysis. So flippin’ scary! Narcolepsy also took a toll on my social life. I had close friends, but group activities wore me out because of my hyperactive dream life. My only coping mechanism at the time was to cry, so my family put me in counseling and I was prescribed antidepressants. I hated both. What finally helped me was working with art and animals. On the weekends I stayed with my dad. He had three dogs and I enjoyed teaching them tricks. I read every book I could find about the canine species. The rest of my time I spent writing poetry, painting, and learning to use the internet. A new symptom manifested when I was 18. I was studying abroad in Germany, washing dishes at home and all of a sudden, my vision spiraled out, my knees buckled and I fell to the ground. I was conscious but everything went black. My body was vibrating, then everything tunneled back in. I was terrified, but I was alone. What could I do? A few days later, it happened again. I hit the ground, blind and buzzing, then life tunneled back in and returned to normal. I’ve experienced it many times since, but have never been able to predict when it will occur. I’ve even collapsed when I sneezed, fully 30
cognizant and without tunnel vision. Those episodes were so strange. I still didn’t know I had narcolepsy. By this time, I had been diagnosed with depression, anxiety, and obsessivecompulsive disorder. The medications’ side effects were worse than the original fatigue, and I stopped believing any of it was real. I needed a new answer. I was alone in a foreign country, and it was time to advocate for myself. I went online and saw that others echoed my feelings about the drugs, so I quit taking all of them cold turkey. Against all odds, I clawed my way through the potentially deadly withdrawals, and forged ahead with a mission to survive. Through everything, I always had a huge drive and mental capacity to learn, teach, and share. I loved new experiences and traveling. My energy came from being in nature, working with animals, making art, and expressing myself. That’s what filled me up.
Photographing storms reminds Miabella that life is bigger than just physical experiences.
caringvoice.org • Winter 2015 • In Your Words
The depression was situational; it came when waves of fatigue and fibromyalgia became so debilitating that I had to limp instead of walk, and I couldn’t make food or clean up after myself. During those times, I lost weight but still looked somewhat healthy, so it was frustrating to explain to people who didn’t understand that I was sick. A while after I stopped the meds, life felt more natural. I was studying photography in British Columbia and I felt very connected to the beautiful environment. For a year, I was healthier than I’d ever been and had a rich social life. I graduated with a Photojournalism certificate, and for the first time ever, I was proud of myself. I thought I could do anything, so I enrolled in a school for dog trainers to continue my studies, when, BAM! A series of the worst lucid dreams hit me. They were so lifelike that upon waking, I could not separate them from reality, and I started zoning out again. I drew on my notes to stay awake. I no longer cried, but I slept through 10 alarms every day and fell really behind in school. One day, a girl with multiple sclerosis who worked in the kennel shared her story with me. She found out she had “chronic fatigue” by taking a sleep
| In Your Words | study. Hearing those words together struck a lightning bolt in my head. I was 23 when I finally underwent a sleep study and was diagnosed with narcolepsy. The sleep specialist said that many people are misdiagnosed with depression before being properly diagnosed, and he prescribed a sleep medication to promote wakefulness that would help tone down or even eliminate the vivid dreams. Finally! A doctor that took me seriously. Within a week, I was up at 6 a.m. daily, in class early and had several new dogs assigned to me for training. It was unbelievable. I started seeing clearly for the first time, and began to realize the impact that I could have on the world around me. My life was changed. I became a certified canine specialist and dog trainer, and tried to begin my working career. All of my symptoms were clinical and had special names, which validated my years of wondering. My doctor classified the collapsing episodes as cataplexy, plus I had excessive daytime sleepiness (EDS), hypnagogic hallucinations (the floating before falling asleep), sleep paralysis, microsleep, and brain fog. Brain fog, a parallel symptom of narcolepsy and fibromyalgia, has been one of the worst. When I talk, I ramble on forever, unable to make my point, or I don’t realize when people get it because I’m stuck in a dizzying maze of words, and can’t even think of a simple one like “car”. The effects of the medication have mellowed. It still helps me fall asleep, wake up, go places, and carry on conversations, but the brain fog and fatigue make the working world tough. I’ve had a hard time keeping a regular job because of how often I still need to rest, stretch, and sometimes even cry. My journey was lonely until I met
Miabella enjoys playing music with her father because it always lifts her spirits.
three other people with narcolepsy at a wellness retreat. They hooked me up with an online support group, and I now have a network of people throughout the U.S. who face similar daily struggles. We provide support and accountability for each other. I encourage those just beginning their own diagnostic journeys to find the things you love the most and do them every day. Be kind to yourself, do what you can and don’t worry about the rest. Paint if you love to paint; sing if you love to sing. Simply do what brings you the most joy, and put yourself in the company of supportive people. No one should have to go it alone. My number one take away from all of my experiences is how crucial it is to reach out when in need. Every time I do, life gets better. It may not be perfect, but there’s always been a light at the end of the tunnel vision. The more hugs, smiles and laughs I share with others, the healthier and stronger I become. What keeps me going every day is my faith in ultimate grace from a Highest Loving energy source that smiles, listens and cares. I have this faith because I’ve felt the energy myself, and I know it exists because more than once it has saved my life.
You can find more of Miabella’s artwork by visiting her website at dreamspiritstudios.com
For many years, I searched for alternative healing options and have found so many: eating whole foods, practicing mindfulness, yoga, prayer, meditation, and expressing creativity! I also discovered the magic of massage therapy and aromatherapy. I’ve combined the practices I love the most to create my own healing system that helps me clear the clutter from my mind so I can step into my “flow”. Lately, I’ve been feeling a strong pull to share my findings with people who are looking for hope. I’d love to open a nonprofit organization. I envision road trips through the States to host creative workshops, and building a creative arts retreat center with organic gardens and beautiful views. Everyone could use a place to discover new ways to heal. For me, it’s always been about how to stimulate forgiveness, love and joy within the mind, body and soul. Regardless of anything else, I know that following this path will bring me my freedom, because I’ve found the things I love to do, and I’m doing them every day. For those of you who haven’t found your passion, don’t ever give up, because you might find it just around the corner. 31
| Patient Association Profile |
Phelan-McDermid Syndrome Foundation (PMSF) By Nick Assendelft, Vice President Additional contributors: Susan Lomas, Geraldine Bliss, and Megan O’Boyle
What is Phelan-McDermid Syndrome (PMS)? What is most important for people to know about PMS?
Phelan-McDermid Syndrome (PMS) is caused by the deletion or mutation of genes, including SHANK3, on Chromosome 22. It results in moderate to severe intellectual disability, physical delays, lack of functional language, low muscle tone, poor motor skills, problems with eating and sleeping, overheating, flaky fingernails and toenails, and in some cases seizures. Many of those diagnosed with PMS fall on the autism spectrum of disorders. There is a wide range of disabilities among those diagnosed with PMS. Still, most patients with PMS are happy, friendly and interact with parents, siblings and caregivers. How long has the PMSF been in existence? What is the mission of the PMSF?
The Foundation was founded in 2002 after our third international support group conference. At that time we had roughly 50 member families. Today we have more than 1,300 families in our membership database. It is the mission of the Phelan-McDermid Syndrome Foundation to improve the quality of life of people affected by PMS worldwide by providing family support, accelerating research and raising awareness. What services and programs does the PMSF offer? Has the need for services and programs grown since the founding of PMSF?
Our signature program is our bienni32
al International Conference. Last year more than 800 people attended our three-day event in Orlando, Florida. Our next meeting is July 2016, also in Orlando. We also support smaller, regional gatherings for families both in the United States and internationally. Our Global Partners program aims to unite families worldwide with the common goal of improving the lives of those with PMS and working toward a cure. Our family support includes a monthly newsletter, online communities and web-based resources. Research programs include an international registry, the recent launch of PMS-focused research clinics and funding to advance studies that we expect will lead to treatments and a cure. A new initiative for the PMS Foundation is a push to lobby lawmakers in Washington, D.C. on behalf of our families in order to raise awareness and procure research funding. Explain the importance of the Phelan-McDermid Syndrome International Registry.
The web-based Registry is an important step in accelerating translational efforts related to PMS. It allows parents and participants to enter patient-reported data about PMS that reflects the effects of the condition on those diagnosed with PMS, which is important for characterizing and understanding the syndrome. Not only will the Registry provide valuable information for families and doctors to make the best possible care deci-
caringvoice.org • Winter 2015 • In Your Words
sions, it will also be important to help researchers decide what are the most important research questions to address and who might be a good match for research studies. What are some of the services that you feel are most needed among PMS families and patients?
Families affected by PMS are looking for help in caring for someone with a rare disease. With roughly 1,300 cases worldwide, our patients are in a somewhat unique situation. Having access to resources to inform teachers, therapists, doctors and medical personnel about the syndrome is critical. To that end, we are developing clinical care guidelines that we will soon make available to families. Our community is passionate about helping others. Families participate in vibrant online communities, offer emotional support, provide advice on many topics and make quick friends with others around the world who have been recently diagnosed. What do you think are the most important things for the newly diagnosed PMS families to know?
The most important thing is that they are not alone. There are other parents in the PMS and rare disease communities who will support them with advice and encouragement. For those diagnosed with PMS, the Foundation offers life resources, an engaged community, family contacts and the shared hope that we’ll find effective treatments and eventually a cure.
| Patient Association Profile | Do you refer patients to clinical trials?
The Phelan-McDermid Syndrome Foundation works with the research community to educate families about opportunities to participate in clinical trials and research studies. In some cases, where researchers want to enroll specific subsets of those diagnosed with PMS, we’ve used our Registry to invite eligible patients to participate. Have you seen advancements in research for PMS?
There have been tremendous advancements in PMS research. While there are many questions that still need to be answered, insights about the SHANK3 gene have led to the iden-
tification of targets for drug development, including one of which is now in clinical trial. How can patients and caregivers become involved with PMSF?
The easiest way to get involved is by registering as members of the Foundation. By doing so, patients, families and caregivers join a growing community, impact issues that are important to families, and foster research and scientific awareness. We also urge participation in our International Registry to help accelerate research. We need advocates at schools, in the medical community or among influential stakeholders to raise awareness, which benefits everyone in the rare disease
community. The work of our dedicated volunteers is critical to the survival of our Foundation. We are so incredibly grateful for the volunteers we have and are always looking for more. Donating time or resources and working together gets us closer to our vision of conquering PMS.
Learn more about the PMS Foundation Phelan-McDermid Syndrome Foundation 200 Capri Isles Blvd. Suite 7F Venice, Florida 34292 (941) 485-8000 www.pmsf.org
(Photo opposite page) Nick Assendelft and his son, Jacob, who has been diagnosed with PMS.
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| Healthy Eating |
GO GREEN!
1
Building the perfect salad Salads are great way to get in your daily servings of veggies and keep yourself healthy and strong.
Start with a base of romaine, leaf lettuce, spring mix, spinach, kale or arugula.
2 Add some crunch with plenty of mixed veggies, the more colorful the better!
3 Freshen it up with fruits and nuts. Berries, apples, grapes, walnuts, pecans and almonds are always favorites.
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4
5
| Healthy Eating |
Add some texture by throwing in seeds or grains. Quinoa, flax seeds and chia seeds are great options.
Pack it with protein with items like chicken, hard boiled eggs, tofu, lean beef, or tuna
6 Dress it up with olive oil, red wine vinegar, balsamic vinegar or fresh squeezed lemon juice. 35
| Health Watch |
What’s in a Name? CVC Program Manager Lauren Ruiz lays out the cost differences between generic and brand name medications
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rose by any other name is still a rose and an expensive medication by any other name is still expensive. The myth of ‘generic’ medications is that they are all cheap and affordable. In reality, if you have a coinsurance based out-of-pocket responsibility, like Medicare prescription coverage, where you pay a percentage of the total retail cost of the drug, some generics can be as, or even more, expensive than their brand counterparts. These costs especially affect individuals inflicted with rare, chronic diseases as medications in general to treat their illness may be more expensive. In 2014 the National Health Council, an organization of over 100 health-related organizations and businesses, estimated that 133 million Americans, or up to 45% of the population, have at least one chronic disease. This number is only predicted to increase over time and chronic disease could affect almost half of Americans by 2025. Healthcare costs continue to grow right alongside these numbers. For those with Medicare prescription coverage, co-payments for generic medications could actually be more expensive throughout the year than the brand version if both medications have a similar retail value. This is due to the different discounts provided by Medicare for generic and brand medications, which vary as an individual incurs prescriptions costs and moves from the Initial Coverage phase, through the Coverage Gap, and into the Catastrophic phase. In 2015, members of Medicare prescription coverage are responsible for 45% the cost of brand medications in the Coverage Gap. Drug manufacturers provide a 50% discount for these medications and Medicare pays the remaining 5%. In addition to these discounts, Medicare counts both the manufacturer discount as well as the member’s out-ofpocket responsibility for brand medications toward the total incurred costs for the year; this results in members moving through the Coverage Gap and on to the less expensive Catastrophic phase more quickly. 36
caringvoice.org • Winter 2015 • In Your Words
At the same time, Medicare prescription members are responsible for 65% the cost of generic medications in the Coverage Gap. Medicare pays the remaining 35% of these medications. Since there is no manufacturer discount to account for, only the 65% the member pays is counted toward total incurred costs for the year, keeping the member in the Coverage Gap longer. As some generic medications are valued at a high retail cost, typically $1,500 or more for a 30-day supply, this can result in members paying more over time for what are supposed to be cheaper alternatives. It is important to understand how your benefits work so you can be prepared for costs you will incur throughout the year. No one likes to be surprised by unexpected copayments and in some cases an unaffordable co-payment may keep individuals from purchasing needed medications. There is good news though. As part of the Patient Protection and Affordable Care Act of 2010, one provision which impacted Medicare coverage was aimed at ‘closing’ the Coverage Gap. This means that over time members’ costs in the Coverage Gap will decrease. By the year 2020, Medicare prescription members are expected to pay about 25% the cost of medications in the Coverage Cap for both brand and generics. Always talk to your doctor to determine if they have prescribed a brand medication only or if that medication could be substituted for a generic version at the pharmacy. Then talk to your pharmacist about the prices for the medications to determine which one is most cost effective. Some insurance policies may only pay for either the brand or the generic and if you fill the non-preferred medication you will pay a lot more. You could even be penalized by your insurance and charged additional fees. Remember to always follow your doctor’s orders and if you don’t think you can afford a medication seek out financial assistance where available.
| Health Watch |
Your Hospital Checklist By Robert Mayfield, M.D.
When living with chronic illness, especially a rare and life-threatening one, hospitalization is often necessary. In fact, hospitalization can be routine. And, although a hospital stay can be a harrowing experience, it’s less stressful when you’re prepared and informed. Having a checklist available can serve as a recipe for a successful hospitalization resulting in less complications or subsequent rehospitalization. Patients are the best advocates for their own well-being and deserve to have a complete understanding of their health care. See the back of this page for a helpful hospital checklist. 37
| Health Watch |
Prior to Hospitalization Bring a current list of all of your medications with you. If possible, have the actual prescription bottles in hand. Medication errors are very real and this will help to avoid duplicating therapies or overlooking a medication that is important for you.
Bring a synopsis of your medical history, i.e. prior hospital discharge paperwork or a medical summary from your primary care physician (PCP). This will aid the admitting physician in putting together your history and initial evaluation for your stay.
During Hospitalization Call your PCP’s office to notify them of your admission if your PCP doesn’t come to the hospital. Many times, your PCP can be left out of the loop until you see him/her during a follow-up visit and they are often surprised to find out you were in the hospital. This can ensure there is an adequate level of communication between your PCP and other physicians during your stay. Find out who the primary attending physician is for your hospital stay. This individual will be responsible for coordinating your care and paying attention to recommendations from other consultants/subspecialists during your stay. Request social work for concerns over insurance and financial responsibility. Advance planning can avoid costly surprises. Ask about new medications and why you may not be receiving your regular medications. This will safeguard against medication errors.
Notify your attending physician of your primary contact to receive information about your hospital stay. Allow this individual to be your spokesperson and report back to your friends and family. There should be one designated person who receives and disseminates information regarding your stay. Physicians do not have time to contact multiple family members to update them on your stay. Also, information can become fragmented and misconstrued if distributed to too many people. Having one person receive and relay information ensures your story remains consistent. Understand why certain procedures are being performed. It is your right to understand everything regarding your hospitalization. If a test is not going to result in a change in your care or treatment, then it should not be performed. Request to see a charge nurse for dissatisfaction with care. These individuals can serve as an effective intermediary and help the hospital improve its quality of care measures.
Upon Discharge Make sure you know how to use any prescribed durable medical equipment (DME), such as a walker or a nebulizer, and have a plan for obtaining it. A delay in receiving DME or improper use of DME can lead to injury and rehospitalization. Make sure you have a follow-up appointment scheduled with your PCP. This will ensure that you are continuing on your path to recovery and provides another check point regarding your medications. 38
caringvoice.org • Winter 2015 • In Your Words
Insist on reviewing your discharge list of medications with your nurse and clarify any discrepancies before leaving the hospital. According to the Family Caregiver Alliance, studies have shown that as many as 40 percent of patients over 65 had medication errors after leaving the hospital.
Tear out this page and keep these tips handy in the event you are hospitalized.
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Caring Voice Coalition, Inc. (CVC) is a national 501(c)(3) non-profit, charitable organization that improves the lives of patients with chronic illnesses. We do this by offering financial, emotional, and educational support.
Our Programs • Financial Assistance • Alternate Coverage • Therapy Appeals • Social Security Disability • Patient Education
T he D i s e a s e s We Supp or t To best serve our patients and expand our reach, CVC's list of supported diseases and chronic illnesses is always growing. To see a complete list of disease funds, as well as links to helpful resources, please visit www.caringvoice.org or scan the QR code to the right.
How We He lp CVC’s programs are a direct response to patient needs. In addition to medical and financial challenges, chronically ill patients face significant obstacles to starting and remaining on therapy. Our programs remove those obstacles.
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