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Athletes Take On Rare Disease

25 Years with Alpha-1 Chloe Temtchine Sings for PH Awareness Genetic Research: Pulmonary Hypertension, Narcolepsy, and Childhood Epilepsies AND MORE

Notice the person and not the patient. Oxy Couture is proud to have developed a nasal cannula cover that is washable and interchangeable. We have designed these covers to aid in the prevention of break down of the skin from the tubing due to prolonged oxygen wear. At Oxy Couture we address not only your comfort but your need for individuality. Our covers come in many styles, and can even be customized to your personal needs. At Oxy Couture we want people to see the person, not the patient.

Where Breathing Right Never Looked So Good!





SPRING 2014 Athletes and Rare Diseases Issue




4 Contributors’ Page 5 Editor’s Letter 6 Vice President’s Letter

9 CVC Close Up CVC Application Developer Ken Jorgensen’s life-long love of tech helps keep CVC’s IT engines running smoothly.

13 High Notes


 Singer, songwriter and musician Chloe Temtchine was diagnosed with severe pulmonary hypertension in March 2013 and rushed to the ER. Her new song, “Be Brave,” due out March 29, 2014, is about making the choice to live.

20 We Can Be Heroes From Mt. Kilimanjaro, Tanzania, to Oceanside, California, world-class athletes and weekend warriors team up to take rare diseases to the mat.

16 Growth Strategy  Former schoolteacher Marlene

30 Puzzle Board

Buchanan charts her personal growth as a mentor and advocate during 25 years with alpha-1 antitrypsin deficiency.

Geneticist Wendy Chung, M.D., describes her research in pulmonary hypertension, and Community tracks the latest genetic discoveries in childhood epilepsies and narcolepsy.


33 In Your Words Carrie Beth Pretto unfolds the story of her son Asher’s infantile spasms diagnosis and offers advice for finding support, treatment, and resources for dealing with the illness.

Cover photo: Olympic bronze medal winner Sarah Winckless Staf f


Editor in Chief

Pamela Harris Samantha Harris

Eva Leonard 888.267.1440, ext. 105

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

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

Director of Communications

Graphic Design & Illustration

Jennifer Previtera 888.267.1440, ext. 141

Anthony Nesossis 888.267.1440, ext. 174

Copyright Caring Voice Community is produced by Caring Voice Coalition, Inc. Copyright ©2014

Please recycle this issue.

Contributors Marlene Buchanan Former special education teacher Marlene Buchanan has lived with alpha-1 antitrypsin deficiency for 25 years. An Alpha-1 patient advocate and mentor, Buchanan, who lives with her husband in Philadelphia, Pennsylvania, grew up in Pittsburgh, then the home of steel manufacturing. When she turned 50, she learned that the smoky city had enhanced her likelihood of presenting with Alpha-1 symptoms. For 25 years, her symptoms and exacerbations have been minimized by weekly augmentation therapy. Wendy Chung, M.D., Ph.D. Wendy Chung is a clinical and molecular geneticist who directs the clinical genetics program at Columbia University and performs human genetic research. She is an associate professor of pediatrics and medicine. She received her B.A. in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics. Dr. Chung directs NIH-funded research programs in human genetics of pulmonary hypertension, and birth defects including congenital diaphragmatic hernia and congenital heart disease. She was the recipient of the American Academy of Pediatrics Young Investigator Award. Jake Dowell After completing his National Collegiate Athletic Association ice hockey career, Jake Dowell turned pro in 2004 when he was drafted by the Chicago Blackhawks. Dowell won the Stanley Cup with the Blackhawks in spring 2010 and is now center and team captain for the American Hockey Leagues’s Iowa Wild. Dowell’s father and brother have Huntington’s disease, and Dowell is an advocate for Huntington’s disease fundraising and awareness. Patricia George, M.D. Patricia George is an assistant professor of medicine and pulmonologist at University of Pittsburgh and UPMC. She takes care of patients with pulmonary hypertension and also performs research in the mechanisms of HIV-associated pulmonary hypertension and HIV-associated COPD. Outside of the medical center, she is a racer and team manager for Team PHenomenal Hope, the official endurance cycling team racing for the Pulmonary Hypertension Association and presented by UPMC. In June 2014, Dr. George will race with her teammates on a four-woman team in the Race Across America, covering nearly 3,000 miles in less than nine days. Nicole Jeray LPGA golfer Nicole Jeray was diagnosed with narcolepsy in 1996. A winner of eight collegiate tournaments, Jeray qualified for the LPGA on her first attempt. She has competed in three U.S. Women’s


Open Championships and two British Opens and was the winner of the 2002 Thailand Ladies Open Championship. She finished 113 on the LPGA money list in 2013. Jeray’s Swinging for Sleep online fundraising campaign promotes narcolepsy awareness, research, and patient support. Nicole Murray Marathon runner Nicole Murray’s son, Ronan, was diagnosed with infantile spasms in 2012, at four months of age. Murray ran in the 2013 Philadelphia Marathon to raise funds and awareness for infantile spasms as an Epilepsy Foundation Athlete vs. Epilepsy. Four months after surgery, Ronan is seizure-free. Michael Poole Professional triathlete and New Zealand champion Michael Poole was diagnosed with epilepsy as a teenager. Poole, who competes in triathlons worldwide, participates in the Epilepsy Foundation’s Athletes vs. Epilepsy initiative and is a full-time chemical engineering student at the University of South Florida. Carrie Beth Pretto Carrie Beth Pretto’s son, Asher, was diagnosed with infantile spasms in 2011 at six months of age, and two months later was diagnosed with tuberous sclerosis complex. Two years later, after brain surgery, multiple medications and doctors’ visits, he is now seizure-free. Shana Verstegen Six-time log rolling and boom-running champion Shana Verstegen has been featured on ESPN, The Travel Channel, and Outdoor Life Network. A fitness trainer, athlete, and spokesperson for Huntington’s disease, which claimed the life of her mother, Deborah Martin, in 2013, Verstegen lives with her husband, Peter, in Madison, Wisconsin. Sarah Winckless Three-time Olympian and twice world champion rower Sarah Winckless is patron of the Scottish Huntington’s Association. In 1996, Winckless’s mother, Valerie, was diagnosed with Huntington’s disease, and Winckless herself has tested positive for the Huntington’s gene mutation. Winckless won the bronze medal in double sculls with partner Elise Laverick at the 2004 Olympic Games in Athens. Now a motivational speaker, coach, regatta umpire, and British Olympic Association Athletes Commission Chair for Sochi 2014 and Rio 2016, Winckless lives in Hurley, U.K. • Spring 2014 Athletes and Rare Diseases Issue

Community Editor‘s Letter Eva Leonard

In this issue of Community, athletes and their loved ones who are dealing with rare and chronic diseases teach us much about reaching beyond our own preconceived limitations. We celebrate everyone profiled within these pages — athletes and non-athletes

alike —for their achievements and for what they can teach us about the power of focus, positivity, and determination in the face of adversity. As Olympic bronze

medal rower Sarah Winckless has said of her mother’s battle with Huntington’s disease, “My Olympic effort was nothing compared to what my mum battles with every day of her life.”

Many of the athletes we interviewed said that sports gave them and their

families an opportunity to escape stress, enjoy themselves and put thoughts of

illness aside. At the same time, by using their celebrity to spread awareness of and raise funds for rare diseases, they motivate and inspire others.

Athletes and their families are far from the only heroes in this arena. Here at

CVC, we celebrate their and your victories, no matter how large or small they may seem. And as you challenge yourself, reward yourself for your attempts,

regardless of the outcome. Simply making the effort can make all the difference in the world. As Winckless says, “We’re all capable of more than we think we are.

Photo: Charlie O᾽Donnell

Get on the start line and have a go.”


CVC Vice President‘s Letter Samantha Harris

This issue of Community focuses on athletes dealing with rare and chronic diseases, but when it comes to living with illness, you don’t have to win medals to feel proud of your achievements. It’s important to find ways to recognize and celebrate your little victories, whether it’s getting through the tasks of your day, finding new ways to deal with challenges, reaching out for support, or providing support to a fellow patient or caregiver. You also don’t have to be an Olympian or a triathlete to benefit from training. Just

as athletes learn to think positively, find their strengths, and take care of themselves by eating right, exercising and getting enough sleep, so can we.

Whether you’re a patient with a chronic illness, or a caregiver, think of yourself as

being in physical, mental and nutritional training, and think of your doctors as your coaches or trainers. Becoming physically and mentally stronger can only be to our

benefit, helping us to meet everyday challenges, take care of ourselves and others, set new goals, and make plans for the future.

As Nicole Murray, who runs marathons to raise awareness and funds for her son

Ronan’s infantile spasms says in this issue’s cover story, “…in the thick of things, it would have been very easy to forget about taking care of myself— going public with a goal to support Ronan kept me accountable and got me out and running.”

Whatever the challenges you’re facing and the goals you’ve set, remember, at CVC,

6 • Spring 2014 Athletes and Rare Diseases Issue

Photo: Taylor Scott

we’re here to support you and cheer you on.

READERSʼ COMMENTS We’d like to hear from you! CVC has been with me and my pulmonary hypertension since 2004. I know I could not have lived this long without them. Thank you. — Gina Martin, Wimberly, Texas ..........................................................................................................................

Email your feedback and questions to

Thank you, from one of your very grateful patients. — Patty Lundy Hill, Greensboro, North Carolina .......................................................................................................................... What an awesome group. They [CVC] make it possible for me to have pulmonary hypertension medication. — Deloris Taldo Peacy, Tontitown, Arkansas

SOCIAL MEDIA Join the CVC community. Get support. Meet new friends. Share your stories. @CVCinc

CLOUD 9 CVC’s CLOUD 9 online portal is the secure, easy way for patients to: • Apply for or renew financial assistance • Update personal information • Communicate with your CVC care team To learn more, visit

Registering is easy! 7

Donate to Support COMMUNITY Community Magazine Volume 2 • Issue 3 • Fall 2013 • The Quarterly Publication of Caring Voice Coalition, Inc.

Children Your contributions help fund Caring Voice Coalition’s quarterly Community magazine. We’re dedicated to providing supportive content in Community and on the CVC website, both for patients living with rare diseases, and for their caregivers. Please consider donating to Caring Voice Coalition’s Community magazine. Please use the attached donation envelope to send your tax-deductible contribution to Community. We greatly appreciate your generosity.

+ Creativity

The Art and Life of Paul Klee Alpha-1 Advocate Len Geiger’s Photography HDYO’s Creative Expression


Pediatric Lung Transplant Q & A—Thomas Spray, M.D. Children’s Health Insurance Program Pediatric Narcolepsy And More

Subscribe to Community Magazine Harriet

Remarkable Tubman’ s


Genetic Medicine Surviving CTEPH


Newsmaker Q & A— Karen Anderson, M.D. Genetic Counseling and Your Family Genetic Testing and Your Rights And More

CVC’s Community magazine, published four times a year, is packed with helpful information for patients, caregivers, and health care providers. Every issue features patient profiles, interviews with medical experts, information on support groups, and in-depth coverage of health care and legal topics that affect those living with rare and chronic illnesses. Get a year of Community magazine—four quarterly issues—for only $10. Subscribe to Community online at: or send the completed form below with a check for $10 payable to Caring Voice Coalition: Community Magazine Subscriptions Caring Voice Coalition 8249 Meadowbridge Road Mechanicsville, VA 23116

Community Magazine Subscription Name Street Address City, State, Zip Code (Please write "Community Magazine Subscription" in the memo section of your check.)


Close Up:

Ken Jorgensen CVC Application Developer

Photo: Anthony Nesossis


’ve been with Caring Voice Coalition for about two years and in Virginia for about eight. I’m originally from Middletown, Connecticut. I originally got into programming as a hobby. When I was young, I was into making things out of Constructs and Transformers with my cousin, and I was developing games in DOS systems as school projects. I’m still into pretty much everything I was as a kid. I’ve been programming ever since I was 15 and hope to continue in it. I live with my fiancé, my sister, and her fiancé. I have a four-year-old son, Griffyn, who is also interested in tech. I have him playing a game— Mindcraft–it’s a 3-D world where you can build whatever you want. You can build worlds that have castles and dungeons, and you can set up switches and hubs to make electronics. He’s really into it— that, and Legos. Of my family, I think I’m most like my dad. He’s an honest person, who’s upfront about things. He’s inquisitive and works in IT too. I remember when I was little, and he worked repairing things at RadioShack, going with him and taking things apart. I got into IT because I wanted to make artificial intelligence. The first thing I made was a Tic-TacToe game you could play against a computer. CVC has the best goals of any place I’ve worked. It’s a really nice place to be, and it’s filled with a lot of friendly people. It feels good to work here. In my job, I don’t get the same connection that people in our contact center get talking with patients on the phone. I’m in front of the screen eight hours a day, but I feel good about what I do here. My overall goal is to make the IT department as flexible as possible and meet staff needs as quickly as possible. Indirectly, I help patients by providing services that way. I want to see my team succeed and to see CVC as an organization succeed and grow. I want to be a part of that. In IT at CVC, we all have a hand in going out and talking to other departments, finding out what they want, and meeting those needs. We go out in teams to get multiple perspectives from different departments. In my spare time, I like to program. I enjoy programming language—I’m passionate about programming computers. It’s fun for me, something I can get my head into, and thrive in. In programming, I can picture how everything relates. I admire Stephen Wolfram; he wrote a book about computational geometry—how simple patterns build into more complex systems. I’m also into reading and thinking about artificial intelligence. I like odd, bad-sounding indie music. I have some math projects I’ve been working on for three or four years, and I like to draw too. What I think is important for people to know about CVC is that there are no strings attached. When they’re diagnosed, I’m sure it’s world-shattering. People expect strings to be attached to the grants. They don’t expect them to be a gift.


all encompassing

ongoing support & resources

Comprehensive Personalized Patient Prescription Advocacy & Support Services (COMPASSSM) for patients in need of ACTIMMUNE® (Interferon gamma-1b) therapy offers patients, families, and healthcare providers one-stop convenient access to a range of support services, such as: •

Clinical Nurse Program: Once enrolled, patients can reach a registered nurse who can provide valuable information and helpful resources on how to manage their condition

Reimbursement Hotline: The Program Coordinators at COMPASSSM can help patients gain access to ACTIMMUNE® and navigate through insurance questions

Co-Pay Assistance Program: Will help limit co-pay costs for patients to a maximum of $50 per month. (This co-pay assistance program is not insurance. This program is not available for prescriptions that are paid in whole or in part by federally funded programs, including but not limited to Medicaid, Medicare, TRICARE, or other state or federal healthcare programs, or in states where prohibited by law)

Patient Assistance Program: For patients who do not have insurance or whose insurance plans do not cover ACTIMMUNE®, COMPASSSM may provide the medication to eligible patients at no cost

Sharps Container Program (for syringe disposal): Once enrolled, patients can opt in to have a Sharps Container and return shipping materials shipped directly to them at no cost

LEARN MORE. Call 877-305-7704, fax 877-305-7706, or visit

Indications and Usage Chronic Granulomatous Disease (CGD) ACTIMMUNE® (Interferon gamma-1b) is approved by the US Food and Drug Administration to reduce the frequency and severity of serious infections associated with Chronic Granulomatous Disease. CGD is a genetic disorder that affects the functioning of some cells of the immune system. Severe, Malignant Osteopetrosis (SMO) ACTIMMUNE® (Interferon gamma-1b) is approved by the US Food and Drug Administration to slow the worsening of severe, malignant osteopetrosis. SMO is also a genetic disorder that affects normal bone formation. Important Safety Information (ISI) ACTIMMUNE® is contraindicated in patients who develop or have known hypersensitivity to interferon-gamma, E. coli-derived products, or any component of the product. The most common adverse experiences occurring with ACTIMMUNE® therapy are “flu-like”, or constitutional symptoms such as fever, headache, chills, myalgia, or fatigue, which may decrease in severity as treatment continues. Some of the “flu-like” symptoms may be minimized by bedtime administration of ACTIMMUNE®. Acetaminophen may be used to prevent or partially alleviate the fever and headache. Reversible neutropenia and thrombocytopenia have been observed during ACTIMMUNE® therapy. Caution should be exercised when administering ACTIMMUNE® in patients with myelosuppression or in combination with other potentially myelosuppressive agents. Reversible elevations of AST and/or ALT have been observed during ACTIMMUNE® therapy. Patients begun on ACTIMMUNE® therapy before one year of age should receive monthly assessments of liver function. If severe hepatic enzyme elevations develop, ACTIMMUNE® dosage should be modified. At doses 10 times greater than the weekly recommended dose, ACTIMMUNE® may exacerbate pre-existing cardiac conditions or may cause reversible neurological effects such as decreased mental status, gait disturbance and dizziness. Therefore, caution is advised when ACTIMMUNE® is administered to patients with seizure disorders or compromised CNS function or when administered to patients with cardiac conditions such as ischemia, heart failure or arrhythmia. If you are pregnant or plan to become pregnant you should consult with your physician. You are encouraged to report negative side effects of prescription drugs to the FDA. Visit, or call 1-800-FDA-1088. This information is not intended to replace discussions with your doctor. For additional information about ACTIMMUNE®, please consult the Full Prescribing Information and the Information for the Patient/Caregiver and talk to your doctor. ACTIMMUNE® is available by prescription only. See Full Prescribing Information at Please consult the Brief Summary of Prescribing Information on the following page.

Vidara Therapeutics Inc., Roswell, GA 30076 © 2014 Vidara Therapeutics Inc. VID111301-02 All rights reserved.

ACTIMMUNE® (Interferon gamma-1b)

Rx only

Brief Summary of Prescribing Information: See package insert for Full Prescribing Information INDICATIONS AND USAGE ACTIMMUNE® (Interferon gamma-1b) is indicated for reducing the frequency and severity of serious infections associated with Chronic Granulomatous Disease. ACTIMMUNE is indicated for delaying time to disease progression in patients with severe, malignant osteopetrosis. CONTRAINDICATIONS ACTIMMUNE is contraindicated in patients who develop or have known hypersensitivity to interferon-gamma, E. coli derived products, or any component of the product. WARNINGS AND PRECAUTIONS Cardiovascular Disorders Acute and transient “flu-like” symptoms such as fever and chills induced by ACTIMMUNE at doses of 250 mcg/m2/day (greater than 10 times the weekly recommended dose) or higher may exacerbate pre-existing cardiac conditions. ACTIMMUNE should be used with caution in patients with pre-existing cardiac conditions, including ischemia, congestive heart failure or arrhythmia. Neurologic Disorders Decreased mental status, gait disturbance and dizziness have been observed, particularly in patients receiving ACTIMMUNE doses greater than 250 mcg/ m2/day (greater than 10 times the weekly recommended dose). Most of these abnormalities were mild and reversible within a few days upon dose reduction or discontinuation of therapy. Caution should be exercised when administering ACTIMMUNE to patients with seizure disorders or compromised central nervous system function. Bone Marrow Toxicity Reversible neutropenia and thrombocytopenia that can be severe and may be dose related have been observed during ACTIMMUNE therapy. Caution should be exercised when administering ACTIMMUNE to patients with myelosuppression. Hepatic Toxicity Elevations of AST and /or ALT (up to 25-fold) have been observed during ACTIMMUNE therapy. The incidence appeared to be higher in patients less than 1 year of age compared to older children. The transaminase elevations were reversible with reduction in dosage or interruption of ACTIMMUNE treatment. Patients begun on ACTIMMUNE before age one year should receive monthly assessments of liver function. If severe hepatic enzyme elevations develop, ACTIMMUNE dosage should be modified (see DOSAGE AND ADMINISTRATION: Dose Modification in the Full Prescribing Information). General Precautions Isolated cases of acute serious hypersensitivity reactions have been observed in patients receiving ACTIMMUNE. If such an acute reaction develops the drug should be discontinued immediately and appropriate medical therapy instituted. Transient cutaneous rashes have occurred in some patients following injection but have rarely necessitated treatment interruption. ADVERSE REACTIONS The following data on adverse reactions are based on the subcutaneous administration of ACTIMMUNE at a dose of 50 mcg/m2, three times weekly, in patients with Chronic Granulomatous Disease (CGD) during an investigational trial in the United States and Europe. The most common adverse events observed in patients with CGD are shown in the following table: Clinical Toxicity Fever Headache Rash Chills Injection site erythema or tenderness Fatigue Diarrhea Vomiting Nausea Myalgia Arthralgia Injection site pain

Percent of Patients ACTIMMUNE Placebo CGD (n=63) CGD (n=65) 52 33 17 14 14 14 14 13 10 6 2 0

28 9 6 0 2 11 12 5 2 0 0 2

Miscellaneous adverse events which occurred infrequently in patients with CGD and may have been related to underlying disease included back pain (2 percent versus 0 percent), abdominal pain (8 percent versus 3 percent) and depression (3 percent versus 0 percent) for ACTIMMUNE and placebo treated patients, respectively. Similar safety data were observed in 34 patients with severe malignant osteopetrosis.

POST-MARKETING EXPERIENCE Children with CGD less than 3 years of age: Data on the safety and activity of ACTIMMUNE in 37 patients under the age of 3 years was pooled from four uncontrolled post-marketing studies. The rate of serious infections per patient-year in this uncontrolled group was similar to the rate observed in the ACTIMMUNE treatment groups in controlled trials. Developmental parameters (height, weight and endocrine maturation) for this uncontrolled group conformed to national normative scales before and during ACTIMMUNE therapy. In 6 of the 10 patients receiving ACTIMMUNE therapy before age one year 2-fold to 25-fold elevations from baseline of AST and/or ALT were observed. These elevations occurred as early as 7 days after starting treatment. Treatment with ACTIMMUNE was interrupted in all 6 of these patients and was restarted at a reduced dosage in 4. Liver transaminase values returned to baseline in all patients and transaminase elevation recurred in one patient upon ACTIMMUNE rechallenge. An 11-fold alkaline phosphatase elevation and hypokalemia in one patient and neutropenia (ANC= 525 cells/mm3) in another patient resolved with interruption of ACTIMMUNE treatment and did not recur with rechallenge. In the post-marketing safety database clinically significant adverse events observed during ACTIMMUNE therapy in children under the age of three years (n=14) included: two cases of hepatomegaly, and one case each of Stevens-Johnson syndrome, granulomatous colitis, urticaria, and atopic dermatitis. DRUG INTERACTIONS Interactions between ACTIMMUNE and other drugs have not been fully evaluated. Caution should be exercised when administering ACTIMMUNE in combination with other potentially myelosuppressive agents (see WARNINGS). Preclinical studies in rodents using species-specific interferon-gamma have demonstrated a decrease in hepatic microsomal cytochrome P-450 concentrations. This could potentially lead to a depression of the hepatic metabolism of certain drugs that utilize this degradative pathway. USE IN SPECIFIC POPULATIONS-Pregnancy Category C. ACTIMMUNE has shown an increased incidence of abortions in primates when given in doses approximately 100 times the human dose. A study in pregnant primates treated with subcutaneous doses 2-100 times the human dose failed to demonstrate teratogenic activity for ACTIMMUNE. There are no adequate and well-controlled studies in pregnant women. ACTIMMUNE should be used during pregnancy only if the potential benefit justifies the potential risk to the fetus. Nursing Mothers It is not known whether ACTIMMUNE is excreted in human milk. Because many drugs are excreted in human milk and because of the potential for serious adverse reactions in nursing infants from ACTIMMUNE, a decision should be made whether to discontinue nursing or to discontinue the drug, dependent upon the importance of the drug to the mother. Carcinogenesis: ACTIMMUNE has not been tested for its carcinogenic potential. OVERDOSAGE Central nervous system adverse reactions including decreased mental status, gait disturbance and dizziness have been observed, particularly in cancer patients receiving doses greater than 100 mcg/m2/day by intravenous or intramuscular administration. These abnormalities were reversible within a few days upon dose reduction or discontinuation of therapy. Reversible neutropenia, elevation of hepatic enzymes and of triglycerides, and thrombocytopenia have also been observed. DOSAGE AND ADMINISTRATION (see Dosing and Administration in Full Prescribing Information) The recommended dosage of ACTIMMUNE for the treatment of patients with Chronic Granulomatous Disease and severe, malignant osteopetrosis is 50 mcg/m2 (1 million IU/m2) for patients whose body surface area is greater than 0.5 m2 and 1.5 mcg/kg/dose for patients whose body surface area is equal to or less than 0.5 m2. Note that the above activity is expressed in International Units (1 million IU/50mcg). This is equivalent to what was previously expressed as units (1.5 million U/50mcg). Injections should be administered subcutaneously three times weekly (for example, Monday, Wednesday, Friday). The optimum sites of injection are the right and left deltoid and anterior thigh. ACTIMMUNE can be administered by a physician, nurse, family member or patient when trained in the administration of subcutaneous injections. Parenteral drug products should be inspected visually for particulate matter and discoloration prior to administration, whenever solution and container permit. The formulation does not contain a preservative. A vial of ACTIMMUNE is suitable for a single use only. The unused portion of any vial should be discarded. Higher doses are not recommended. Safety and efficacy has not been established for ACTIMMUNE given in doses greater or less than the recommended dose of 50 mcg/m2. The minimum effective dose of ACTIMMUNE has not been established. ACTIMMUNE should not be mixed with other drugs in the same syringe. DOSE MODIFICATION If severe reactions occur, the dosage should be reduced by 50 percent or therapy should be interrupted until the adverse reaction abates.

ACTIMMUNE has also been evaluated in additional disease states in studies in which patients have generally received higher doses (>100 mcg/m2/three times weekly) administered by intramuscular or subcutaneous injection, or intravenous infusion. All of the previously described adverse reactions which occurred in patients with Chronic Granulomatous Disease have also been observed in patients receiving higher doses. Adverse reactions not observed in patients with Chronic Granulomatous Disease but reported in patients receiving ACTIMMUNE (Interferon gamma-1b) in other studies include: Cardiovascular—hypotension, syncope, tachyarrhythmia, heart block, heart failure, and myocardial infarction. Central Nervous System—confusion, disorientation, gait disturbance, Parkinsonian symptoms, seizure, hallucinations, and transient ischemic attacks. Gastrointestinal— dyspepsia, hepatic insufficiency, gastrointestinal bleeding, and pancreatitis, including pancreatitis with fatal outcome. General Disorders and Administration Site Conditions—malaise, injection site hemorrhage. Hematologic—deep venous thrombosis and pulmonary embolism. Immunological— increased autoantibodies, lupus-like syndrome. Metabolic—hyponatremia, hyperglycemia, and hypertriglyceridemia. Musculoskeletal—clubbing, muscle spasms. Pulmonary—tachypnea, bronchospasm, and interstitial pneumonitis. Renal—reversible renal insufficiency. Other—chest discomfort, exacerbation of dermatomyositis. Abnormal Laboratory Test Values: Elevations of ALT and AST, neutropenia, thrombocytopenia, and proteinuria have been observed (see WARNINGS and PRECAUTIONS: Laboratory Tests).

INFORMATION FOR PATIENTS Patients being treated with ACTIMMUNE and/or their parents should be informed regarding the potential benefits and risks associated with treatment. If home use is determined to be desirable by the physician, instructions on appropriate use should be given, including review of the contents of the Patient Information Insert. This information is intended to aid in the safe and effective use of the medication. It is not a disclosure of all possible adverse or intended effects.

No neutralizing antibodies to ACTIMMUNE have been detected in any Chronic Granulomatous Disease patients receiving ACTIMMUNE.

Vidara Therapeutics Inc., Roswell, GA 30076 © 2013 Vidara Therapeutics Inc. VID111106-01 All rights reserved.

If home use is prescribed, a puncture resistant container for the disposal of used syringes and needles should be supplied to the patient. Patients should be thoroughly instructed in the importance of proper disposal and cautioned against any reuse of needles and syringes. The full container should be disposed of according to the directions provided by the physician (see Information for the Patient/Caregiver). The most common adverse experiences occurring with ACTIMMUNE therapy are “flu-like” or constitutional symptoms such as fever, headache, chills, myalgia or fatigue (see ADVERSE REACTIONS) which may decrease in severity as treatment continues. Some of the “flu-like” symptoms may be minimized by bedtime administration. Acetaminophen may be used to prevent or partially alleviate the fever and headache.

High Not


New York-based singer, songwriter and musician Chloe Temtchine has won rave reviews and awards for her solo work and collaborations with other top music industry artists. On March 29, 2014, Temtchine’s new song, “Be Brave,” will be released on iTunes, with fi fty percent of the proceeds benefi ting PHA. Diagnosed with pulmonary hypertension in 2013, Temtchine performs with her oxygen tank, which she has dubbed “Steve Martin,” alongside her. Community spoke with Temtchine about life, music and pulmonary hypertension.


hen did you start singing and songwriting? Who and which styles are some of your biggest influences? I started singing at about the age of six. My father used to take me to a Baptist church in Harlem, on Sundays, where I listened to gospel music for hours. That’s where it all began. I’ve always had very eclectic taste in music: from artists like Edy Phenomene (French dancehall), to Smokie Norful and Kim Burrell (gospel), to Stevie Wonder and Sam Cooke (R&B/soul), to James Vincent McMorrow and Ray Lamontagne (singers/ songwriters), to Eric Reed (jazz). The list could go on forever.

When and how were you fi rst diagnosed with pulmonary hypertension? What were your initial symptoms? In March 2013, after my cardiologist reviewed an echo and listened to my heart, I was diagnosed with severe pulmonary hypertension and was rushed to the ER. The shortness of breath, lung pain, and fatigue that had started five years previously had become progressively worse, and I had reached a point where I could barely move. Getting to the bathroom was a major accomplishment! Then my heart started beating out of my chest. And then, together with the continued chest pain that accompanied every breath, I suddenly put on 10 pounds of water weight overnight.

What is “Be Brave” about? After being diagnosed, I found myself spending so much time trying not to die that I had forgotten to live. “Be Brave” is about making the choice to live. Every time I went to the hospital, I came home feeling that there was very little hope. I realized that if I didn't shift my consciousness quickly, my condition would continue to get worse. I’m a big believer that our minds play a huge role in the state of our health. Keeping my mind in the right place is so important to me that I decided to write a song about it. I wanted to remind myself, and anyone else going through a similar experience, that any challenge had the potential to be an opportunity. CONTINUED ON PAGE 14


After being diagnosed, I found myself spending so much time trying not to die that I had forgotten to live. ‘Be Brave’ is about making the choice to live.” What inspires you in songwriting? I’m much more comfortable expressing myself through song. Music captures the way I feel in a way that words without melody can’t seem to do. What have you learned in dealing with pulmonary hypertension? What have been some of your biggest challenges, and how have you dealt with them? Although I would do just about anything not to have pulmonary hypertension, I’ve understood through this process that there are many lessons I’m meant to be learning. I am very grateful for the perspective it has given me with regard to my life. My biggest challenge was seeing a future when I was told that it was highly unlikely that I would have one. This continues to be my biggest challenge.

balance. Through music, I’m able to get out all of the things that I would otherwise potentially keep in. What is next for you in terms of treatment for PH? I’m not totally sure at the moment. Because there is a belief that I may have pulmonary veno-occlusive disease in addition to PH, my doctor is going very slowly with the medications, which I’m very grateful for. Lung transplantation has been suggested, and although I’m thankful that it exists as an option, my goal is to stay away from it, if at all possible.

What do you think is most important for the newly diagnosed to know about pulmonary hypertension? For the newly diagnosed, I would say: Surround yourself with positive people who instill hope in you, eat a very healthy diet (plant-based, if possible), go to pulmonary therapy, focus on other people’s success stories, and most importantly, believe that it is possible to get better no matter what you’ve been told. How does being a singer, musician and songwriter help you deal with pulmonary hypertension? I think that being inspired and passionate in general is helpful to anyone. I also think that it’s very important to express yourself in order to keep yourself in


(Above) Temtchine’s “Be Brave” album cover • Spring 2014 Athletes and Rare Diseases Issue

What’s next for you in music? My next goal in music is to finish writing the album I began when I got out of the critical care unit and to perform as much as possible. What do you enjoy most about music? I love that music has always had the ability to completely alter the way I feel. It has helped me be hopeful during very difficult times. I love the idea of creating something that could not only alter my own state, but that also has the potential to alter the state of someone else who may be in need of some state-altering! —EL.

Treatment delays? Suggestions for a specialty pharmacy?

Let PHA Know. Are you facing treatment delays that originate with your specialty pharmacy? Do you have an outstanding specialty pharmacy relationship that you wish others in the field would replicate?

The Specialty Pharmacy Advisory Board wants to hear from you! The Specialty Pharmacy Advisory Board involves a cross section of the pulmonary hypertension community, including patients and their loved ones, as well as specialty pharmacy representatives. A collaboration between the Pulmonary Hypertension Association and the Caring Voice Coalition, we’re dedicated to gathering feedback about how well specialty pharmacies are serving PH patients and using that feedback to promote improved service.

Submit your comments at: or by calling 301-565-3004 x773



Marlene Buchanan shares what she’s learned as she marks a quartercentury living with alpha-1 antitrypsin deficiency.

16 • Spring 2014 Athletes and Rare Diseases Issue


first became symptomatic 25 years ago, when I was 50. Not many people knew about Alpha-1 then. I started to have respiratory symptoms. I was a swimmer and a schoolteacher— I taught hyperactive kids. One day, I stopped at the Y and could only swim two or three laps. I couldn’t breathe. It scared the bejesus out of me. That really set me on the path to find out what was wrong with me. Not too long after that, my son came to visit me. He flew in from Denver and, he, too, had respiratory symptoms. The doctor gave him an adrenalin inhaler and never said ‘Alpha-1,’ but told him to get tested. C O N T I N U E D O N PAG E 1 8


After getting tested, my son said, “Oh Mom, I have some genetic It works beautifully for me. We have a lovely apartment, and I disease. I don’t have to worry about it right now.” can manage life. I’ve only had one Alpha-1 exacerbation, and I’m When I told my doctor about my son’s diagnosis, he said, ‘My healthy and fine. god, Marlene, you have Alpha-1!’ I was tested and put on therapy I like to live with this disease creatively. It has not been my idenimmediately. tity. I have moved forward in my life, and I’m very proud of that. I thought it was some freak disease. I did not talk about it for many I’ve never let it get me down. It’s not who I am. years. Thursdays, after school, I had weekly Alpha-1 infusions. For How do I empower myself? I learn everything that I can about 12 years, I didn’t tell anyone. I lived as an Alpha island. I only told it. I share it with hundreds of Alpha patients. In serving so many, it a couple of my very best friends, and my son and has made me strong and given me more to offer other people. I do my husband knew. I was afraid that I would be believe that making a difference and the many patients in the Alpha treated as a sick person and stigmatized. community have sustained me. I had a condo in Florida where I went in the One of my mentoring patients, who has become a patient mentor winter when I could no longer teach. At 60, herself and is doing a marvelous job, hadn’t told me what I meant handling a classroom full of kids became too in her life, that I had become a role model for her. much. I took a sabbatical at about 62 and went Then, she gave me a gorgeous sterling silver angel for my new on Social Security. Christmas tree and told me that I’m her Alpha angel. Bringing newly I was very symptomatic for the first year. While I was in Florida, diagnosed Alpha-1 patients out of their confusion and depression— I went to the University of Florida in Gainesville to a wonderful that’s what my life has been about for the past 25 years. Alpha-1 doctor. He put me on a stronger dose of medication, and I bounced back like a ball. I’ve had a couple of pivotal points in my life where the right doctor did the right thing. Dr. Friedrich Kueppers, who diagnosed the first Alpha patient in the U.S., contacted me, and we started a support group at Temple University. I had never met another Alpha until that day. I walked into the room and burst into tears. I was the leader of that group for probably 15 years. I’m In my spare time, I still still very much involved in it. do water walking classes at Along the way, I’ve learned the pool. I also like to para lot. ticipate in discussion groups. About ten years ago, I I’ve become very social as went to work as a patient I’ve grown older. My other advocate and mentor. Over thing is shopping. I have the years I have talked to litthe clothes now that I didn’t erally hundreds of Alphas. have as a kid growing up in My big thing is making a Pittsburgh. difference, and I feel like I The whole center of my have. life has been meaningful One of the most imporrelationships with people. I tant things I’ve learned is did enjoy skiing. Now I enjoy that keeping a positive attithe snow and the birds. I’ve tude is the best treatment. Above: Marlene Buchanan at the 2009 Alpha National Conference in Orlando, Florida (top). become quite a gardener and I’ve also learned to use the Buchanan’s garden at her Philadelphia home. a bird watcher. resources available to us and to share those resources with other I transformed a mud world in the yard of our previous home and Alpha patients. Most of all, I have learned over and over again that landscaped it. I grew, and as I did, I planted more and more flowit’s possible for any of us to make a difference in the lives of others. ers and shrubs. I have a small garden that was on the garden tour Alpha-1 is not a death sentence. last spring. I went to Ireland three times to do research on my family’s Alpha-1 Now, I’m watching the birds feeding in the snow and feeling very history. My mother’s family said, “You didn’t get this from us.” grateful for what I have in life. I have planted significantly. It gives I knew that my grandmother couldn’t breathe, and that one of her me so much pleasure to watch everything grow. I taught special edusisters had gone back to Ireland. People talked about her son being cation kids; language-disordered kids. I watched my students blosin a rest home there. He had bad allergies and couldn’t breathe. som and grow and operate in the real world. Nobody in my parents’ generation presented with Alpha-1 on either What I’d like newly diagnosed Alpha-1 patients to know is that side. None of the siblings had it. No one else had it other than my there are organizations like Caring Voice Coalition to help them. son and me. I have two grandsons who have been tested, and the Life isn’t over because they’ve been diagnosed with Alpha-1. younger one is a carrier, like his dad. That was very difficult for me. I can almost see Alpha-1 as a gift in my life. Reading and learnHe’s eighteen years old now, and he has been healthy. ing about Alpha-1 and meeting patients is a joy I would not have My husband and I live in greater Philadelphia in a life-care com- had, had I not been an Alpha-1. We all belong to the same family. munity run by Quakers. We’ve been there for two and a half years. If a new patient can get that, they’re good to go.

I grew, and as I did, I planted more and more flowers and �hrubs.

18 • Spring 2014 Athletes and Rare Diseases Issue

How will



Caring Voice Coalition? Charitable giving begins at any time in one’s life. Consider where your assets go and include Caring Voice Coalition in your estate planning. Contributions, including monetary gifts and stock donations, help to ensure that CVC continues to provide financial assistance and additional resources to aid in the journey of our patients. We can help you explore a variety of possibilities for making a significant gift to Caring Voice Coalition. Simply contact Rebecca App, Director of Finance, at 888-267-1440, ext. 106 or




Athletes take on rare disease. Eva Leonard reports.

Sarah Winckless In 1996, British rower Sarah Winckless’s mother, Valerie, was diagnosed with Huntington’s disease. Soon after her mother’s diagnosis, Winckless herself tested positive for the Huntington’s gene mutation. She went on to win two world championships and to compete in three Olympics, winning the bronze medal in double sculls with partner Elise Laverick at the 2004 Olympic Games in Athens.


Retiring from rowing in 2009 to pursue other challenges, in 2010, Winckless climbed Mt. Kilimanjaro with her brother, Charlie, and in 2012 completed a bike ride between London and Paris to raise funding and awareness for Huntington’s disease. She is now a motivational speaker, coach, regatta umpire, British Olympic Association Athletes Commission Chair for Sochi 2014 and Rio 2016, and patron of the Scottish Huntington’s Association. Winckless’s mother now requires 24-hour • Spring 2014 Athletes and Rare Diseases Issue

care, but was able to watch Winckless receive her Helen Rollason Sportswoman of the Year Award for Inspiration in December. In a 2010 interview with Scotland’s Daily Record, Winckless said, “My Olympic effort was nothing compared to what my mum battles with every day of her life.” Community spoke with Winckless about recent developments in Huntington’s research, the importance of positive thinking, and her plans for the future.



important for those newly diagnosed with Huntington’s disease to know is that anything you’re feeling is normal. There’s no right or wrong way to deal with it. For me, knowledge is power— to understand enough about the disease to know that there are some things you can control. We have a duty to take care of ourselves by exercising, eating, and sleeping well. Look for the bits you can control and enjoy controlling those areas. Sport will always be something that lifts me and makes me feel better. I run, cycle, and row. I exercise about seven or eight hours a week. [If exercise can result in a delayed onset of Huntington’s disease] it gives me a great excuse. My mother taught me things. She did really well. She has an absolutely brilliant spirit. She used humor, keeping it light, laughing at herself at times. I guess it’s called black humor. Mum got diagnosed in 1996. I could clearly see that something wasn’t working. When I got the name ‘Huntington’s,’ it really helped me. For me, testing positive didn’t feel any worse than being at risk. I wanted to get the test done as quickly as possible. It was a very simple decision for me. Becoming a Huntington’s disease advocate was never intentional. I didn’t see myself doing that. Just before the 2004 Olympics, it felt like it was the right thing to do, to tell a positive story. As patron of the Scottish Huntington’s Association, I do what I can for Scotland. It gives me huge strength as well, and I have the privilege of working with some amazing young people. For me, climbing Mt. Kilimanjaro was a double-pronged motivation. It was a real opportunity to do something different, something special, while spending seven days with my brother and doing something for my charity. I also wanted to see what my body would do at that altitude. At 4,700 feet, I was happy. Then, I got the worst headache I’ve ever had in my life. I redecorated Kilimanjaro by being sick, but my brother and I both made it to the top. My dad and stepdad were rowers. I also did discus and played basketball at Cambridge. I started to row, and it was brilliant to already be a trained athlete trying a new sport. Gladiatorial side-by-side rowing is, I think, what I was born to do.

Above: Sarah Winckless (right) with double sculls partner Elise Laverick. Opposite page: Winckless with her mother, Valerie, at the 2004 Olympic Games in Athens. After winning the bronze medal, Winckless ran past security to place her bronze medal around her mother’s neck and her laurel wreath atop her head.

It fit my physiology and my psychology. When you do sport, you find yourself, in a deep, psychological way. You find out how to think positively. My thinking affects my feeling. I believe you can choose your mood, although some days are more difficult than others. As a motivational speaker, I talk very much about setting your goals high. We’re all capable of more than we think we are. Get on the start line and have a go. Where does courage come from? I think it’s really unique. Quite often, we need someone else to give us that fi rst push. If you’re someone who finds it within yourself, tap into that. Be accepting that we’re all different. [Having studied chemistry at Cambridge] for me it’s been a really interesting dance with how much I look at research. I am incredibly excited at some of the develop-

I’m asymptomatic, touch wood, [but] I would absolutely participate in clinical trials. I’m in some of the studies. I’d love to be part of the solution in that way. I’ve got hundreds of plans for the future. I’ve loved working in elite sports. I enjoy leadership, coaching to top business people and top junior athletes, helping others to be as good as they can be. I’ll be the keynote speaker at the CHDI conference in Palm Springs in February. I’ll also be picking the brains of some of the scientists there. It’s always inspiring being around high performers. In the HD community, I’m looking forward to the anniversary of SHA, the Scottish Huntington’s Association, which will be twenty-five years old on November 21. I’ll be doing summer camp for young people in July and a 40K run in March in Sweden for a young persons’ group there.

For me, testing positive didn’t feel any worse than being at risk. I wanted to get the test done as quickly as possible. It was a very simple decision for me. ments in the last few years. The possibility of turning off the gene not long ago would have been considered a sci-fi type of thing, as would passing drugs through the bloodbrain barrier. In the past, the huntingtin protein has been seen as the enemy. Now we see it as the body’s defense. As understanding and the ability to study the gene gets greater, it’s an exciting time for science. I do a lot of work with the brain. I am always tempted to study more, but that’s not the path I’ve chosen.

I’ve also just been given an allotment (a plot of ground given to citizens by the British government for planting), and I will be perfecting the art of vegetable growing. For someone who’s come from a competitive environment, the pace is probably a bit different. Everyone has good days and bad days. Grab and enjoy the good days. Be good to yourself on the bad days. CONTINUED ON PAGE 22

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Jake Dowell American Hockey League player Jake Dowell is center and team captain for the Iowa Wild. Dowell’s father, John, and his brother, Luke, have Huntington’s disease, and are cared for in an assisted living facility. Dowell has not been tested for Huntington’s. Community spoke to Dowell about the challenges his family faces and the escape that hockey gives them.


HE FIRST THING THAT drew me to hockey was that my older brother wanted to play. It was a sport that didn’t come naturally to me, like baseball or football, and my dad wouldn’t let me quit. He wanted me to have to work through something and have the feeling of achievement once I did see progress. What I enjoy most about hockey is the release that it gives me. I have dedicated most of my life to it and to get to the NHL. Having that chance to play in the best league in the world has been what makes it fun and always worth the tough times when it seems so much like just a job. If I wasn’t playing hockey, I think I'd be a guidance counselor at a high school. I like 22

to work with kids and think that I have the ability to relate and help kids that need a little direction in their life. I first learned about Huntington’s disease when my dad was diagnosed when I was in high school. At the time, I was living with a host family in Ann Arbor, Michigan, while I was playing hockey, and my parents were in Wisconsin. So it made it a little more rough to handle news of that level and not be able to be around to help or understand completely what our family was in for at the time. Hockey has always been a stress reliever for me and lets me get away from the family issues and personal issues off the ice. It has also been a way that my whole family • Spring 2014 Athletes and Rare Diseases Issue

has been able to have a little getaway from Huntington’s disease by coming to see me play or watching me play on TV. Caregivers are the most important people in this whole thing. I admire my mom and what lengths that she has gone through and sacrificed of herself in order to make sure my dad was always the main priority and taken care of. With that said, it has been extremely hard on her, and if I can give any advice, it would be to make sure you take some time for yourself to still have a life of your own with friends and family. It is so stressful on the caregiver, that if you don’t take time for yourself, your own health may start deteriorating.

Above: Jake Dowell on the ice for the Iowa Wild. (Photo by Reese Strickland)

I go and see my dad and brother as much as possible in the summers. I don’t see them during the hockey season much, and now they are at the point that neither can say much. My dad is completely dependent on people to help him move or do anything, so we really just sit there, and it’s pretty quiet, but I know he enjoys the company. And the same goes for my brother. I have learned a lot from my dad and brother over the years, but they have been sick for so long that the main thing I take from them is that even though they were both handed an extremely difficult and miserable disease, they never complain, and they just deal with it. My mom has taught me more than I can

really put into words, but if I had to point out one thing, it is how to handle adversity and how to put others’ needs first. And if I could teach my mom one thing, it would be to learn to balance when to put her own needs first once in a while. I met my wife when I was first out of college at the University of Wisconsin, and I was starting my professional career, and she still had a couple years of school left. We were drawn to each other initially because we had mutual friends, and we really just over time started spending more and more time together. I found myself coming back to Wisconsin whenever I had a break, or she would come down to Rockford, Illinois, where I was playing at the time, and

it just went from there. I am happiest when I am with my wife, Carly, and our English bulldog, Gus, and with our friends and family. I have found myself really reaching out and having a number of extremely close friends that my wife and I spend a lot of time with, and sometimes that fills the void of not having my dad or brother around to spend time with. I have also gotten extremely close with Carly’s dad. He is someone I look up to and has also filled a father figure void for me as well. We plan on having children in the future — we just don’t know how distant in the future it will be. I need to get tested for Huntington’s disease before we try to have children, so that complicates things a bit. 23

Michael Poole Community spoke with 22-year-old New Zealand champion triathlete Michael Poole about his sport, his love of adventure, and his discipline in dealing with epilepsy.


Y EPILEPSY WAS FIRST diagnosed when I was 17 or 18 years old. I was in two situations where I had grand mal seizures about 13 weeks apart. It was a difficult time, as my sport involves activities (swimming and cycling) that have risk attached, but I had good doctors and great advice that I’ve followed very closely. The medication I’m on appears to have worked well too. Growing up in New Zealand, there is every opportunity to be active. I played a lot of soccer early, but also loved running races. At 13, I started cycling and then did a couple of triathlons and realized I had to learn to swim a lot better. Below: Michael Poole racing in the 2013 Rev3 Half Ironman in Branson, Missouri.

I‘m not a person who sits in his motel room — I Through some great coaching and lots of hard work, by the time I had love an adventure — whether that’s nearly left high school in New Zealand, I running into a bear on a trail in Colorado, or had won national titles in triathbiking though unbelievable traffic and hoards lon, duathlon, multi-sport, cycling, cross-country running, and road of people to get to the Great Wall of China running. I had also represented while staying near Beijing. New Zealand internationally in both cycling and triathlon. Being disciplined around my risk factors For those newly diagnosed, I think it’s important to get as much accurate information is hard — sleep, diet, remembering to take as you can from experts. Don’t panic. Follow meds. Being concerned about misunderadvice really closely. Don’t put aside ambi- standings can be hard too. I have to declare tions. Talk about things when you are ready. my condition on race entries, but so far orgaSome of the most important things I’ve nizers have been really good and low-key. learned from being an athlete, are that it’s When we were first working through that, really hard work on a daily basis, and you it was hard, as the restrictions placed on me have to take things one day at a time. I’ve the first six to 12 months after diagnosis were strict for driving, cycling, and swimming. been able to travel to a range of countries — I’m a full-time chemical engineering stuChina, South Korea, Japan, New Caledonia, dent at the University of South Florida. I Australia, Costa Rica, and Barbados, and to have high expectations and work very hard. 20 cities in the U.S.— you learn a lot about To be a full-time student, full-time athlete people and places. living in a country I did not grow up in has real challenges. Financially things are also tough — I pay full international fees, plus away-fromhome living costs. Triathlon is an expensive sport in many ways — getting sponsorship is tough — and the major results do not come until your mid to late twenties. So a week-by-week challenge is finding enough financial backing just to keep moving forward as a student and an athlete. I race often. On January 19, I raced in a world-class field in Auckland over a halfiron man distance. I then have more races in New Zealand and one in Australia before heading back to the U.S. in mid-February. I will then look to race approximately 20 times across the U.S. during the year. It’s always challenging, as many world-class athletes come to the U.S. to race, but lots of learning and development are available. What is most rewarding about being a triathlete are the challenges of continuous improvement and the overcoming of all the strategic life problems that go with the sport. It is a very difficult sport. I offered my profi le to the Epilepsy Foundation to assist in any way they saw fit, and their Athletes vs. Epilepsy initiative fits really well. If I can in some way encourage people with epilepsy to be out and be active, it can only be a good thing. People are very welcome to contact me through: www.

24 • Spring 2014 Athletes and Rare Diseases Issue

Nicole Jeray LPGA golfer Nicole Jeray details her five-year search for an accurate narcolepsy diagnosis and how managing her narcolepsy has improved her game.


Having narcolepsy taught me to appreciate each waking moment! I learned to set priorities. Important things must come fi rst— when I have the energy. I also learned how to say ‘no.’ I used to do everything that was asked of me, and more. Now, I do things that I actually enjoy and the things I want to do. Life is much happier and easier. Funny, it took getting narcolepsy to learn this. I like that I’m more even-keeled. It’s less stressful, and less dramatic. I watch other people get so uptight about things, or make such a big deal over nothing. It seems unhealthy, and it drains energy. My visualization skills have also improved. I must visualize and believe that I’m going to hit that shot just right. Th is way, when I do hit a great shot, it’s no surprise, and I don’t get so excited and have full cataplexy. Narcolepsy also taught me how to take care of myself. When I do, my symptoms are much better. I drink plenty of water, eat the right things, maintain a sleep routine, good friends, and healthy relationships. It now baffles me that I didn’t do all these things before. Why does it take a life-changing disorder to figure out what the important things are in life? I finished 113 on the LPGA money list in 2013— it’s the best I’ve finished on the LPGA since being diagnosed with narcolepsy in 1996. Th is position will get me into between 10 and 17 events in 2014. I’m also doing the Swinging for Sleep online fundraising campaign again in 2014 to promote narcolepsy awareness, research and patient support. I care so much about my career that I must take extra care when it comes to managing narcolepsy. I must be extremely aware of how my body and brain feel so I can perform my best. I pay attention to the things that make me sleepier or more alert. Golf helps narcolepsy in many ways. I’m outside and in sunlight, golf is active, and I set my own schedule. The longest I generally have to be alert and awake is about six to seven hours — which used to be extremely challenging before my latest medication change. I spend a lot of time in the gym because of golf. This has to help my narcolepsy.

FIRST EXPERIENCED SYMPTOMS of narcolepsy in college. I fell asleep in all my classes. My notes were a scribbled mess because I was asleep. I was fighting so hard to stay awake and listen to lectures. I also fell asleep while driving. I took a special class in Chicago that was an-hour-and-15-minute drive from campus, and I’d fall asleep every single time I drove back. I’d take the wrong exit and get lost going back to campus. I fell asleep in the summertime driving to far away golf tournaments. I thought it was the exhaust from my old car. I’d roll the windows down and turn the music on high to help me stay awake. I guess I got used to being sleepy and fighting it— it just became a part of life. I had very vivid dreams and sleep paralysis in college. I thought this was normal, and my friends enjoyed hearing about my wild dreams. I played lots of sports as kid. I was very athletic and had excellent hand-eye coordination. Golf was just another sport at first. When I was 15, I started working at a golf course, and it was then that I became addicted to the game. It was five years between the onset of symptoms and an actual narcolepsy diagnosis, and I was only diagnosed because I developed severe cataplexy. In those five years, I went to several doctors looking for answers. ‘Overworked’ was the only diagnosis I received. I took vitamins and even became a strict vegan in an attempt to find more energy. After a year and a half of eating this way, my symptoms never improved, and I developed severe cataplexy. I was lucky to see a doctor who listened to me and researched further to fi nd an answer. Finally I heard the word ‘narcolepsy.’ One week later, I saw a neurologist and did a sleep study and found that I had a classic, textbook case of narcolepsy. I was relieved that there was a name, and that I was not going to die. I would be able to continue to pursue my golf career. Little did I know, that day was only the beginning of a long roller coaster ride and a terrific education on life. I have to force my mind to think about something else to try to prevent cataplexy. It stinks though, to not be able to enjoy the excitement like you want. I became quite good at remaining even-keeled, never too angry and never too excited. It’s built into my personCataplexy definitely has helped my golf game. Being emotionless ality now. on the golf course helps me stay focused on the shot. Having such Sometimes I picture that little kids might be watching, and I don’t want to scare them. It’s pretty traumatic control over my mind helps me forget about my mistakes. watching someone suddenly become totally limp and fall to the floor. Becoming the center of attention and ruining a fun moment for people is no fun. It happened a lot, Left: Nicole Jeray competing but diverting my attention would help. in the Safeway Classic.


Nicole Murray Nicole Murray talks to Community about pairing her love of running with raising awareness and funding for her son Ronan’s infantile spasms (IS) and offers advice for parents of children who’ve been recently diagnosed with IS. Murray ran in the 2013 Philadelphia Marathon as an Epilepsy Foundation Athlete vs. Epilepsy.


ONAN WAS OFFICIALLY diagnosed in late April 2012, at four months old, via video EEG, though he was having clinical spasms in March. It took nearly five weeks for his clinical spasms to evolve to infantile spasms and hypsarrhythmia on the EEG. The moment he started having them, I knew they were IS. I had read about IS when I joined an epilepsy parent support group and had seen videos of children having IS, so I knew. It’s very different than other seizure types; they don’t look all that terrible, but they are incredibly catastrophic. I've always been a runner. It has always been a great stress reliever for me. I knew that I could pair my love of running with raising awareness for Ronan’s condition, and that’s why I chose to run for the Epilepsy Foundation.


ome of the things I think are most important for parents of children newly diagnosed with infantile spasms to know are: • Be aggressive in seeking out a frontline treatment for IS. Though the steroids have scary side effects and can be very hard on the children, they tend to work. • There is an incredible support system out there. I have found great comfort and lots of knowledge from the online communities I’m a part of. • Trust your gut. I knew the moment we saw his spasms, they were IS. At first the docs dismissed us because it wasn’t showing up on the EEG. I kept on it, demanded follow-up EEGs, and sure enough, five weeks later, it had evolved into full IS. • There is hope. There are many children who recover from IS quite well.


Left photo, clockwise, left to right: Nicole Murray, Murray’s husband, Jonathan, and son, Declan, following the 2010 Boston Marathon. Top photo: Ronan, Jonathan, Nicole, and Declan Murray. (Photo by Sarah Kaupp)

Ronan is defying the odds and breaking the rules. At ten and a half months old, he was not sitting, not babbling, and not self-feeding. He was having anywhere from five to 50 seizures daily. Since the morning of October 23, he has not had one seizure! He had surgery three months ago, and he’s sitting unassisted, babbling, self -feeding, plus, starting to really bear weight on his legs. His development has taken off, and he’s so happy and alert, despite still being on two seizure meds. The surgery did leave him with deficits, some of which will be permanent. Some of which, we’ll hope to overcome with intensive therapy. He does have significant weakness/ unawareness on his right side, as his entire left-brain hemisphere is now disconnected/ removed, but he’s showing steady progress with arm recovery. His leg has recovered very well. He will have a permanent visual field cut. The right visual field of both eyes will never return. Right now, we are working hard with seven-plus therapy appointments per week, and celebrating in each and every inch and milestone he’s making. I’m now back to work, and his therapy schedule (and our other son) keep us very, very busy. I try to get out [to run] at least three, ideally four times a week. Running helps me feel strong, both phys- • Spring 2014 Athletes and Rare Diseases Issue

In the thick of things, it would have been very easy to forget about taking care of myself — going public with a goal to support Ronan and the Epilepsy Foundation kept me accountable and got me out and running.

ically and mentally. I also never take for granted that I have the physical abilities to run, as I’ve met many children now who cannot. I don’t know [what marathons I’m running next]! I think I’ll probably be more inclined to sign up for a half marathon first. Training for a full marathon is a serious time commitment. Perhaps Philly again. Regrettably, I have not been involved with the Epilepsy Foundation beyond raising money via the marathon. Eventually, I’ll become more involved, but right now, Ronan’s therapy and needs are intense. I am involved with several online support groups for infantile spasms and polymicrogyria, and the Hemispherectomy Foundation, among others. You can follow Ronan’s journey and progress here: RonanRobertsFanClub?ref=hl

Shana Verstegen

Six-time log rolling and boom-running champion Shana Verstegen (née Martin) has been featured on ESPN, The Travel Channel, and Outdoor Life Network. Verstegen’s sports of choice demand a daunting blend of strength, balance, endurance, and agility. The physical state that allows the 34-year-old athlete and fitness trainer to stay atop logs that are bobbing in water while spinning them with her feet, and win by making her competitor lose her balance is complemented by her training in pole vaulting, gymnastics, and karate. In 1986, Verstegen’s mother, Deborah Martin, was diagnosed with Huntington’s disease. Martin succumbed to respiratory complications from the disease in March 2013. Verstegen, who married her husband, Peter, in November 2013, has not been tested for Huntington’s. Community spoke to Verstegen about her plans for the future, her mother’s legacy of strength and determination, and the freedom Verstegen finds in log-rolling.


FIRST LEARNED ABOUT HUNTINGTON’S DISEASE in our hotel room at the Mayo Clinic. My dad set out a bunch of materials provided by the Huntington’s Disease Society of America (HDSA) about what Huntington’s disease is, what to expect, and caregiving. My parents sat down and explained to me exactly what to expect over the next several years, and how my mom would lose her ability to walk, talk, and care for herself. But they also showed me all the research that was happening. My dad said, ‘All these people are working really hard to make sure that your mom gets better.’ And then my dad flipped a coin. He said, ‘These are your chances of also having Huntington’s disease.’ My question was, ‘Well, which one is it? Heads or tails?’ He said, ‘I can’t tell you that.’ But… he always went right back to: ‘All this research is happening.’ He truly believed they would have a cure before it came to my time. Unfortunately, they don’t yet. I began log rolling at the YMCA swimming pool. I loved the fact that it was so unique and fun! Log rolling has always been my escape. As a child, when I showed up for practice, nothing else in the world, not even how sick my mother was, bothered me. It was my time to have fun with friends and do something I love. It still is!

Log rolling has always been my escape. As a child, when I showed up for practice, nothing else in the world, not even how sick my mother was, bothered me. It was my time to have fun with friends and do something I love.

What I think is most important for caregivers and those newly diagnosed with Huntington’s disease to know is that life is not over upon diagnosis. No matter what challenge we face, we all need to live life to the fullest and love and appreciate those closest to us. With my career as a fitness professional and all of my athletic competitions throughout the year, daily workouts are part of my life. I don’t think of [the possibility of ] delaying Huntington’s disease while I exercise, just about having fun and performing well. If I do have the disease, of course, a delayed onset would be a wonderful benefit. After my mom had to move into a nursing home for safety reasons in 1993, my dad and I made a promise to spend time with her at least once every week. Th is became our ‘family day.’ While she was still mobile, we would go on various adventures around southern Wisconsin and out to eat. When she was no longer able to leave the nursing home, we would spend time there, telling her about what was new in our lives and watching movies. After her passing in March of 2013, my dad and I continue this weekly tradition of family day. My mother used her battle with Huntington’s disease to teach some very important lessons. She taught us to smile, to give, to be strong and independent and stubborn — to fight for what we believe in, to love unconditionally, embrace family, live every day to the fullest, and to sing. My life is absolutely amazing now, and part of it is because I can hold onto hope. I fear a positive test result will take that hope away from me. But through my involvement with HDSA, I’ve met so many people who are positive with Huntington’s disease and are living their lives just as fully as I live mine. This year may mark a change in my decision to not be tested, but that is a decision my husband and I will have to make after much thought. As for the future, I will continue packing 30 hours into each 24-hour day, and working my hardest to do my part to find a cure for Huntington’s disease. I also, more than anything, want to become a mom.

Right: Shana Verstegen boom running.


and mind to some sort of limit. It allows you to lose yourself in the present—how you’re feelPatricia George, M.D., spoke with ing at that time. Community about her work in pulmoWe’re working with our nary transplant medicine, her HIV-PAH team coach, who’s helpresearch, and her motivation as a member ing coordinate our trainof PHA’s four-woman Team PHenomenal ing schedules so that they Hope in the nine-day 2014 Race Across build and peak at the right America. time. Training is about consistency—getting the workOING INTO MEDICAL school, outs in, getting stronger every I had passion for and experience in day (except rest days). Eating immunology research, so transplanhealthy and getting enough tation was something in which I was always sleep are crucial too. interested. And like many who go into pulAs a team, we’re racing the monary medicine, I was initially drawn to whole race as a relay. To make it through my medical school and residency the time cut-off and make it rotations in the medical intensive care unit. I to the finish line as fast as we enjoyed pulmonary physiology, and the work can, we divide up the ride into and pace of critical care medicine. 20-to-30-minute segments. In addition, as a medical student, I met a On a four-person team, typpatient with cystic fibrosis awaiting a lung ically two riders will be out transplant in the medical intensive care unit. on the road, trading places in I got to know her and her mom, and some of 20-to-30-minute pulls (one her life story, and wanted to be able to help Above, left to right: Team PHenomenal Hope members Ryanne Palermo, riding, the other in a support people like her with lung disease. So that Patty George, Stacie Truszkowski, Greta Daniels and Kate Bennett. vehicle leapfrogging ahead for page, left to right) Team members Palermo, George, Truszkowski, led me to pulmonary medicine and pulmo- (Opposite the exchange to happen). This and Anne-Marie Alderson at University of Pittsburgh Medical Center. nary transplant medicine. pair of the four-woman team My research involves looking at the mech- Marie Alderson, Ryanne Palermo, and Kate will ride for four to six hours, while the other anisms of HIV-associated pulmonary arte- Bennett as our crew chief, our four-woman pair rests, eats, sleeps, and recovers. It goes rial hypertension (HIV-PAH). Pulmonary cycling team was born. 24/7, from the time the gun goes off until arterial hypertension is quite rare, however We organized this Pittsburgh-based team, we cross the finish line. in patients with HIV, it affects at least 0.5%, met with our friends at PHA, as well as From what I hear, mental toughness will and perhaps more, according to recent stud- our earliest sponsors, and formed Team be one of the biggest challenges during ies. That’s at least one in [every] 200 patients! PHenomenal Hope. Later that summer, RAAM. Those who have done it say that, Advances in HIV care have changed the we added to this group Greta Daniels, assis- at about day four or five, the sleep deprivalandscape for people with HIV, and many tant crew chief and alternate racer, and Sara tion kicks in, and the reality of the Midwest now label HIV a chronic disease. So medi- Harper, alternate racer and crew. flatlands also hits you. I know there is beauty in rolling plains, but at that point in the race, it may be tough to see it. This is a really neat circle. Patients and work inspire cycling During RAAM, the crew is the essenand Team PHenomenal Hope, and the team, in turn, inspires tial group of people that will get us from Oceanside, California, to Annapolis, me at work with patients. Maryland The crew chief, Kate Bennett, is cal complications, like HIV-PAH, become Our mission is to dedicate our training in charge of coordinating the drivers, naviextremely important to study and hope- and racing to those who live with pulmo- gators, medics, mechanics, nutrition, makfully help people live longer and live better. nary hypertension, to raise public aware- ing sure we’re on course, and that people— Team PHenomenal Hope came together ness about the disease, and to raise funds including crew—are getting enough sleep, with people passionate about cycling and to find a cure. food, etc. A race with this relay between raising awareness. As an avid cyclist, it had I started biking during pulmonary fellow- four racers, moving across the country with long been a dream to someday race in the ship. I wanted to get back in shape, and a an RV, two support vehicles, and 13 crewRace Across America (RAAM). new women’s cycling team called Steel City members is quite an undertaking. Stacie Truszkowski, one of my close Endurance was forming. I joined them in the The greatest source of inspiration is the friends in the cycling community, also shared inaugural year, and became totally enam- PH community. When I think about how this dream. So, in 2011 and 2012, Stacie ored with biking and bike racing and met a hard it may be to be on the bike, mentally and I reached out to our endurance cycling lot of really neat people. or physically, I think about what my patients friends whom we thought might be crazy— I enjoy being outside, escaping the stresses go through on a daily basis. er—passionate—enough to do this as well, of my sometimes hectic lifestyle. As for I get to choose to ride my bike, to push and in 2012, with the addition of Anne- endurance cycling, I enjoy pushing my body myself through discomfort. My patients

Patricia George, M.D.


28 • Spring 2014 Athletes and Rare Diseases Issue

don’t have such a choice. They wake up and live with pulmonary hypertension every day, and face whatever that day may bring, and many do so with such grace. So when I’m feeling less than motivated, I often think of people I know living with PH, and it motivates me to get this job done. Likewise, in my practice, I am regularly reminded of the need for a cure. I often evaluate patients with pulmonary hypertension in need of a lung transplant. For this group of patients, they often no longer are responding to medications. It is a reminder that, while we have come so far, and many patients do respond to medical therapies, we still need a cure. In my job, I also conduct PH research, and know firsthand how important funding is to exploring the frontiers in science. It makes it all the more important to me that Team PHenomenal Hope is raising money for PHA to fund grants and help other scientists have funds needed to find a cure. We have something truly special with our partnership with the Pulmonary Hypertension Association. PHA launched a Race of Our Lives campaign, and we have been amazed how people in the community have organized their own Unity events,

walking, riding their bikes, doing whatever they can to raise awareness about PH and join us in raising funds to find a cure. Team PHenomenal Hope is bigger than four of us on bikes, or the 17 of us crossing the country. This is actually a huge team that spans coast-to-coast. Pulmonary hypertension is a rare disease that can affect anyone, from children to adults, men and women, and people of all races and ethnic backgrounds. Initially, it is often misdiagnosed as another pulmonary condition, taking on average over a year to make the correct diagnosis and get

the proper treatment. Although it is a rare disease, it is important for doctors to at least think about pulmonary hypertension in their differential diagnosis when faced with a patient with shortness of breath, because without considering it, the diagnosis won’t be made. Fortunately there are many medical treatments on the market, changing the prognosis for many who have this disease; however there still are people who do not respond to therapy, and to date there is no cure. Team PHenomenal Hope is working with PHA to do something to try to change that.


Thousands of rare and chronic diseases have been identified since the 1950s, when researchers began to unravel the genetic complexities of disorders such as sickle cell anemia and Down syndrome.



In this issue’s genetic medicine feature, we explore recent genetic research discoveries in pulmonary hypertension, childhood epilepsies, and narcolepsy and what they might mean for the future.

Genetic Research and Pulmonary Hypertension

Community spoke with Wendy Chung, M.D., Ph.D., Director of Clinical Genetics, New YorkPresbyterian/Columbia University Medical Center about her pulmonary hypertension research.



I’ve been doing research for the last eight years related to genetic aspects of pulmonary hypertension. We’ve been involved in gene discovery — identifying new genes for pulmonary hypertension, trying to characterize people with mutations in those genes, understanding what’s different about their type of pulmonary hypertension, and interestingly, trying to understand why, among a large number of people who carry mutations, not everyone actually develops pulmonary hypertension. It’s one of these things where’s there’s a genetic susceptibility, but not a genetic certainty. We’re trying to understand that better and to understand why women in particular are more likely to get pulmonary hypertension, and men seem to be protected. 30

The most common pulmonary hypertension gene is BMPR2 (bone morphogenetic protein receptor, type II) and that accounts for about 70 percent of families that have pulmonary hypertension. Interestingly enough, even among families or individuals who have idiopathic pulmonary hypertension — so they have no family history — about 20 percent of those individuals have a mutation in BMPR2 as well. It ends up being a little bit surprising sometimes when families realize that there’s a hereditary aspect, because they didn’t necessarily see it in their family. Pulmonary hypertension wasn’t well recognized or well diagnosed until the last 10, 15 or 20 years. So, many people in the older generation died without a diagnosis, or it wasn’t necessarily recognized, or clear, what they died from. Gender Differences

As we’ve done those family studies, what we’ve realized is that about 15 percent of men that have the BMPR2 mutation will ultimately develop pulmonary hypertension. That also means that about 85 percent of men will not. On the flip side, about 43 percent of women with the mutation will • Spring 2014 Athletes and Rare Diseases Issue

ultimately develop pulmonary hypertension, at least within the families that we’ve studied. But on the other hand, about 57 percent will not. It’s interesting, because we’re guessing that it’s probably factors related to hormones that are different between men and women that are accountable at least for part of that difference, but we don’t know that for 100 percent sure. So we actually have a large study that’s going on now to measure estrogens, to measure female hormones, to try and see if we can see differences that seem to be related to whether or not someone ultimately develops pulmonary hypertension. Identifying New Genetic Factors in PH

As some of the technology has changed, for the last two years we’ve been doing a lot more in terms of trying to identify new genetic factors for pulmonary hypertension. Even though BMPR2 accounts for about 70 percent, there’s still 30 percent that’s unaccounted for. So, we’ve been using the technologies that are called exome sequencing. It’s kind of a short cut to sequencing someone’s entire

Photo: NCI

Factors such as whether certain disorders are inherited or not, and why one gender may be more vulnerable to a specific disorder than another are small, yet crucial parts of a genetic puzzle that seems to grow larger as it’s teased apart.

genome. As we’ve done that, we’ve identified two additional genes for pulmonary hypertension — one in a gene called CAV1 (caveolin-1) and another in a gene, a potassium channel called KCNK3. The potassium channel gene is the one that’s been most exciting for us, because it provides a brand new mechanism, potentially a drug target for therapy. It suggests at least one way that the pulmonary blood vessels regulate their tone, or how much they constrict, and therefore what the pressures are like in the lungs. One mechanism is by this channel, this sort of hole in the cell that lets chloride come in and out. The reason why we’re more

sion. Most people with pulmonary hypertension, if they get genetic testing at this point, it’s not likely to change their own personal medical management. At least at this point, to be very concrete and very realistic about it, even if I diagnosed someone with a genetic disorder or a genetic reason for pulmonary hypertension, based on that diagnosis, it’s not like I can cure the condition right away. It’s not like I can say, ‘I’ve got the magic bullet for you. I can do gene therapy. I can make this all better.’ Really, the reason to do the testing is to be able to help the family; to be able to help identify family members who might be at risk and to make sure they can get early diagnosis, early treatment, with the hope that, if we start treatment early, we can slow down the process so it doesn’t either advance at all, or advance that far. I don’t know for sure that what I said is true, but that’s what our hope is. This problem is, I don’t have a guarantee for someone who is asymptomatic that I can stop the disease. Knowing that not everyone who has the genetic predis(Top photo, opposite page) A scientist separates. DNA. This process is used position will actually develop to analyze the size of DNA fragments, to map DNA, and to create clones. (Above) Genetic laboratory, circa 1950. (Photo by Roy Perry, NCI) the disease; it’s just an increased risk. There are people who say, ‘I excited about that in particular is that there don’t want to know about that. I don’t want are lots of other diseases that are also due to have to think about that, or worry about to channels or to holes in the cells — other that. Just leave me alone.’ diseases that have to do with the heart or But on the other hand, some of the tragthe brain. We’ve been able to successfully edies [have been] when people who didn’t find drugs that will work to make those realize that this was in the family, or didn’t channels either open or close, depending realize that there was something that they on what we want them to do. could do, have died suddenly. Something The hope, although it’s not yet the real- could have been done if someone had reality, is that we might be able to find a drug ized that was their diagnosis. They didn’t that would help us in terms of management get properly diagnosed, or they got treated of pulmonary hypertension, either prevent- essentially too late to do anything for them. ing it or treating it, both in patients that On the other hand, it depends a lot on the have mutations in that gene, but even more individual outlook on this and the famimportantly, potentially in all patients who ily dynamic. have pulmonary hypertension, even if it’s I would say anyone who has either idionot for that reason. pathic pulmonary hypertension, or anyone It may give us enough insight into how who has familial pulmonary hypertension to regulate the pulmonary vasculature well is a good candidate for genetic testing. In enough to manipulate the system. That’s the other words, there’s a high enough probabilthing that we’ve been working on the most ity that we would find an answer, and that recently, because it offers that opportunity it could be useful to their family members. of potentially a therapy. It’s not something I think that I should dictate, or tell them what to do. It’s their PH Genetic Testing Considerations decision. But I think they should at least Who should be tested for pulmonary hyper- know about the option so they can make tension? I think it’s a very individual deci- a decision.

Increased PH Genetic Testing Interest and Accessibility

A decade ago, maybe five years or even two years ago, most families weren’t sufficiently notified about this, informed about this, or wanted to hear this. But since we’ve identified this potassium channel, there’s been a lot of interest from the families for the first time, because I think things have changed. There’s been genetic testing for other conditions that have been in the public eye. Angelina Jolie has been talking about her breast cancer genetic testing. I think, in general, the public is feeling more comfortable with genetic testing. Whether or not this translates very specifically for PH patients, time will tell. The other big change is that we’ve tried to insure that this was accessible to patients — I’ve always been concerned that if patients wanted to get testing, they were able to get testing. If they didn’t want it, that was fine, but if they wanted it, it shouldn’t cost them an arm and a leg to do it. For the first time, we have clinical laboratories that will do comprehensive testing. Insurance will pay for the testing. Laboratories will take their insurance. So it’s not like in the old days, when it might have cost a thousand dollars or more to get testing. PH Diagnosis Delays and Misdiagnosis

Why is there often a misdiagnosis, or a delay in PH diagnosis? The biggest reason is that it’s somewhat nonspecific: People will have problems with shortness of breath; they’ll feel a little bit more tired. There are a lot of reasons, and if you think about yourself, you know, I’m tired at the end of most days. I should be in better shape than I am, and if I work out a little bit harder, then I get short of breath too. When someone passes out, or has problems with passing out, it catches peoples’ attention. When it gets to be really, really advanced, it catches peoples’ attention, but in the early stages, patients blow it off, and they sort of discount it. They might go to their internist, and if their internist doesn’t take it seriously, no one does an echocardiogram, or a catheterization. It’s such a rare disease that it’s not first on anyone’s list. People are much more likely to think of asthma, for instance, and give someone a puffer, and then hope that their shortness of breath goes away with that. It’s sort of thirteenth down on the list that a doctor would think about. CONTINUED ON PAGE 32 31

to appreciate about pulmonary hypertension is that there are a lot more therapies that are available today than there were even five years ago. There are a lot of good medications that can change the

clinical course.

Sometimes it takes time to go through those other more common things and rule those out, and realize that it really is serious, and it’s not just the patient being a complainer. It often unfortunately takes a while, unless you’ve had experience with it. If the patient knows someone in their family has it, they’re much more likely to think about it and worry about it than if they’ve never heard of the disease. The genetic testing really hasn’t played any role at all in the diagnosis previously. It’s really previously been diagnosed based on symptoms — cardiac echo fi rst and then eventually cardiac catheterization. The question becomes, if you’ve got this in your family, and if you knew you were genetically predisposed for this, then the prediction is, that when people started fi rst having symptoms, this would be one of the fi rst things they would think about. Knowing that, their position in the family and their genetic status, it probably would play a much greater role in diagnosis, because people would be alerted to it. The biggest thing for the newly diagnosed to appreciate about pulmonary hypertension is that there are a lot more therapies that are available today than there were even five years ago. There are a lot of good medications that can change the clinical course. It’s still a serious disease, but I think we’re doing much better about keeping people healthy, or keeping them functional. It’s still something we take very seriously, but it’s not a death sentence. 32

Childhood Epilepsies


tudies conducted by the Epilepsy Phenome/Genome Project (EPGP) and Epi4K - Gene Discovery in Epilepsy this year reported the discovery of 25 mutations across nine genes that are linked to the severe childhood epilepsies Lennox-Gastaut and infantile spasms. A worldwide $25 million project, Epi4K’s mission was to use the latest genetic techniques to sequence and analyze DNA from 4000 epilepsy patients and their relatives. The studies used exome sequencing to search for new mutations that are not inherited. DNA and clinical data were originally collected through the Epilepsy Phenome/Genome Project. “Unlike some diseases, many of the genetic mutations associated with severe childhood epilepsies appear to be new mutations that are not inherited,” said Randall Stewart, Ph.D., a program director at NIH’s National Institute of Neurological Disorders and Stroke (NINDS). “This Epi-EPGP project was established to find such mutations.” Using novel genetic analysis techniques, the researchers also demonstrated that epilepsy-causing mutations are concentrated in genes that are highly sensitive, or intolerant, to changes in their DNA sequences in human populations. “It appears that a few pathways may be responsible for many severe pediatric epilepsies,” said David Goldstein, Ph.D., director of the Center for Human Genome Variation at Duke University Medical Center, Durham, North Carolina. “If true, then understanding epilepsies will be more manageable, and we can find common pathways to target with drugs and other therapies.”

(Image) DNA double helix, NHGRI

the newly diagnosed

Genetic Research and

Genetic Research and Narcolepsy


recent study conducted across Europe found an association between narcolepsy and a specific gene variant related to the immune system. The study involved 1,261 people with narcolepsy, representing nearly 90 percent of patients suffering from narcolepsy with cataplexy who have complete diagnostic workup and DNA available. High-resolution genotyping identified genetic variants, including those in the human leukocyte antigen (HLA) system, with contains genes related to immune system function. Participants with a specific gene variant, the HLA allele DQB1*06:02 were 251 times more likely to have narcolepsy with cataplexy than participants without the gene variant. Nearly 100 percent of narcolepsy with cataplexy patients tested positive for the gene variant. Principal investigator and lead author Mehdi Tafti, professor in the Center for Integrative Genomics at the University of Lausanne and Lausanne Hospital in Switzerland said, “This almost 100 percent association with HLA is somehow unique to narcolepsy and suggests a causal implication.” —EL • Spring 2014 Athletes and Rare Diseases Issue

Photo: Mike Mitchell, NCI Visuals Online

The biggest thing for

In Your Words Carrie Beth Pretto’s son Asher’s infantile spasms (IS) were diagnosed two years ago. A year after brain surgery, multiple medications and doctors’ visits, he is now seizure-free. Pretto describes the challenges they’ve overcome, and still face, and offers advice on finding support, treatment, and resources for IS.


sher was diagnosed with infantile spasms on November 11, 2011. He was six months old. A week prior to his diagnosis, Asher began having unusual eye patterns and jerking body movements. He would lean forward and then throw his head back and arms out wide. As we began to notice this wasn’t just a one-time occurrence, we became concerned. Over a week’s time, the jerking motions and eye rolling developed into clusters, occurring more often throughout the day. I made a call to our pediatrician, who immediately ordered us to have an EEG performed. While there, I overheard nurses comment, “Th is is classic IS,” not knowing the least bit about what they were referring to. Within hours, we were sent to a local pediatric neurologist. I can still see the look on the doctor’s face when she walked into the room. It was not your usual fi rst greeting from your doctor. Her face was fi lled with sadness and disappointment. CONTINUED ON PAGE 34


After examining Asher and reviewing the EEG, she diagnosed him with infantile spasms. The doctor stressed the need for starting treatment immediately to prevent prolonged damage to Asher’s brain and the associated developmental delays. Although we knew nothing about IS, we could sense this was a serious matter and obediently agreed to any recommended treatment. The fi rst step was to stop the spasms, and then continue trying to diagnose the cause of the spasms via MRI and other methods. We were told the best case was that nothing abnormal would be found, and in that case, he’d likely grow out of the IS. The neurologist kept commenting that she hoped it wasn’t tuberous sclerosis complex (TSC). Again, something we had never heard of before. The doctor prescribed a very expensive medication that was made-to-order out of Chicago and wouldn’t be released to us until a nonprofit organization agreed to assist with the co-pay. Within three days, we received the medication and began administering it via injections twice a day for 60 days. A nurse administered the fi rst injection, but I was left to provide the injections from then on in his poor little thighs. Again, step two was to determine what was causing the IS, so throughout his period of treatments, Asher underwent numerous After two years of multiple medicatests such as MRI, ultrasounds, carditions and doctors’ visits, Asher has For the parents of those who ology exams, blood work—it seemed now been seizure-free since his brain are newly diagnosed, it’s endless. During this time, our poor surgery just over a year ago. It is son ballooned from the steroids, such a blessing that we can now important to educate yourself going from 15 to 20 pounds in say our little guy, at the age of only seven weeks. two and a half, is actively catchquickly through only credible The medication stopped the ing up and accomplishing new resources—the internet can IS within three days of the fi rst milestones everyday. injection, but while weaning Asher is a busy little guy. When be very misleading—and him off the treatment in the final not at therapy, some of the things to find a neurologist who is weeks, we observed a different type he enjoys are swinging, going for of seizure develop, one in which he wagon rides, running outside, doing knowledgeable in diagnosing lost emotion while looking up and puzzles, listening to sing-a-long away. The neurologist prescribed new songs, anything to do with shapes, and treating IS. medications in various combinations and playing peek-a-boo, coloring, jumping doses to stop the seizures, each unsuccessful. on the bed, and airplane on daddy’s feet, Approximately two months after Asher was and he loves tubby time (bath time). fi rst diagnosed with IS, the neurologist delivered a Some of the biggest challenges have been his lack diagnosis of tuberous sclerosis complex, based on the findings on of and delays in ability to communicate and show emotions and the MRI. Tuberous sclerosis complex (TSC) is a genetic disor- expressions of love, public outings, such as shopping and restauder in which the DNA lacks either one or both of the genes that rants, tending to another child while home, what kind of care to suppress tumor growth in many of the major organs. give him and how to get it, as well as therapy, treatment plans Currently Asher is only showing the TS characteristics of tumor for long-term care, limited medical coverage for behavioral thergrowth on his skin and brain, which account for his uncontrolled apy, rareness of the disorder and limitations of knowledgeable epilepsy and developmental delay. staff close to home. From this point, we were referred to the TSC clinic at UT For the parents of those who are newly diagnosed, it’s important Medical Center in Houston, Texas for further treatment. There to educate your self quickly through only credible resources — we met with multiple neurologists and a geneticist, who pre- the internet can be very misleading — and to find a neurologist scribed another round of medications to control the seizures. who is knowledgeable in diagnosing and treating IS. TechnolFinally, on November 5, 2012, Asher underwent an occipital ogy is also very important— they must have the right and most resection on the left hemisphere of his brain to remove the larg- up-to-date tools. est tuber, [occupying] roughly 10 percent of his brain, that was Be prepared to make difficult decisions, whether it is in regards causing his epilepsy. to medications and their harmful side effects, or the onset of With our weekly schedule of occupational, speech, physical developmental delays. Nonprofit companies are available to and autism therapy, Asher is thriving, despite the setbacks that help you when in need. Support groups are out there ... you are we have faced over the past two years. not alone. 34 • Spring 2014 Athletes and Rare Diseases Issue

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COMMUNITY Magazine, Spring 2014 - Athletes and Rare Diseases  

Caring Voice Coalition's Spring 2014 issue of Community Magazine. Focused on athletes and their loved ones who are dealing with rare and chr...