COMMUNITY Magazine, Winter 2013 - The Genetic Medicine Issue

Harriet

Remarkable Tubman’ s

Life

Genetic Medicine Surviving CTEPH

Plus

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

How will

you

remember

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 gifts and monies, 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 finance@caringvoice.org.

CONTENTS

16

WINTER 2013 Genetic Medicine Issue

12

28 4 Contributors’ Page 5 Editor’s Letter 6 President’s Letter

9 CVC Close Up Caring Voice Coalition Business Analyst Darryl Turner describes how CVC patients and his family have influenced him, and his focus on being a good role model for his children.

10 Newsmaker Q & A

aren Anderson, M.D., director K of the Huntington’s Disease Care, Education, and Research Center at MedStar Georgetown University Hospital discusses genetic testing and counseling for Huntington’s disease, and access to HD care.

12 Step-by-Step

When 40-year-old Kathy Anderson was finally diagnosed with CTEPH, the prognosis was dire. A rare surgery offered hope.

26 20

26 Legal Corner

16 Night Vision

Genetic Protection

Despite suffering from a chronic condition with symptoms of frontal lobe epilepsy and narcolepsy, Harriet Tubman led more than 70 people to freedom on the Underground Railroad, and served as spy, scout, and nurse for the Union Army, and caregiver to the elderly and disabled.

20 Family Medicine

At the age of four months, Adrienne Altamirano’s son Noah began having seizures. At seven months, he was diagnosed with epilepsy with infantile spasms and tuberous sclerosis.

Altamirano describes Noah’s struggles and triumphs, and the vital support network of families whose children have similar conditions.

Genetics are playing a growing role in the prevention, diagnosis, and treatment of rare and chronic diseases. Community spoke with leaders in genetic medicine about what that means for you and your loved ones, and genetic testing and counseling considerations.

CVC Health Care Attorney Stephanie Posuniak outlines how the landmark Genetic Information and Nondiscrimination Act (GINA) prevents discrimination based on your genetic information.

28 In Your Words

Cover photo and top center photo: Library of Congress Bottom center photo: Matthew Sware, the Clinic for Special Children Staf f

Publishers

Editor in Chief

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

Eva Leonard 888.267.1440, ext. 105 eleonard@caringvoice.org

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

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

Director of Communications

Graphic Design & Illustration

Jennifer Previtera 888.267.1440, ext. 141 jprevitera@caringvoice.org

Anthony Nesossis 888.267.1440, ext. 174 anesossis@caringvoice.org

Copyright Caring Voice Community is produced by Caring Voice Coalition, Inc. Copyright ©2013

Please recycle this issue.

Contributors Adrienne Altamirano Adrienne Altamirano’s infant son, Noah, was diagnosed with tuberous sclerosis and infantile spasms in March 2012. A member of support groups, including the Tuberous Sclerosis Alliance, and a group for parents of children with disabilities, Altamirano is also working to establish a ministry at her church for parents of children with disabilities. The Altamirano family lives in San Diego, California.

Karen E. Anderson, M.D. Director of MedStar Georgetown University Hospital’s Huntington’s Disease Care, Education and Research Center, Karen Anderson, M.D., has an extensive background in neuropsychiatry, specializing in Huntington’s disease. She founded and directed a Huntington’s disease clinic at the University of Maryland School of Medicine, where she was clinical associate professor of psychiatry and neurology.

Anderson earned her medical degree from University of Chicago Pritzker Medical School.

She completed her internship at Columbia Presbyterian Medical Center and her residency and postdoctoral research training in psychiatry at Columbia University and New York State Psychiatric Institute.

Kathleen Anderson Kathleen Anderson has CTEPH, a type of pulmonary hypertension caused by the blood clotting disease antiphosopholipid disorder (APS). She also has lupus, fibromyalgia, and congestive heart failure. Anderson underwent a successful pulmonary thromboendarterectomy (PTE) surgery on October 4, 2012. She lives with her sister, Monica, who is her caregiver.

Kate Clifford Larson, Ph.D. Kate Clifford Larson, who consulted on this issue’s “Night Vision” story about Harriet Tubman, is an historian and leading Harriet Tubman scholar and the author of “Bound For the Promised Land: Harriet Tubman, Portrait of an American Hero.” Larson specializes in nineteenth- and twentieth-century U.S. women’s and African-American history.

She has been a consultant and interpretive specialist for numerous museum, community, and public history initiatives related to Harriet Tubman and the Underground Railroad.

4

caringvoice.org • Winter 2013 Genetic Medicine Issue

Her second book, “The Assassin’s Accomplice: Mary Surratt and the Plot to Kill Abraham Lincoln,” was released in 2008. Larson is currently at work on “Rosemary: An Interrupted Life,” a biography of Rosemary, the disabled sister of President John F. Kennedy, due out this spring from Houghton Mifflin.

Rebecca Nagy, MS, CGC Rebecca Nagy is the current president of the National Society of Genetic Counselors. Nagy is a certified genetic counselor and clinical assistant professor of internal medicine at the Wexner Media Center at The Ohio State University, Columbus, Ohio.

Stephanie Posuniak CVC Health Care Attorney Stephanie Posuniak assists patients with the various stages of the Social Security disability application process. Prior to working for CVC, Stephanie was recruited by the Social Security Administration to act as a specialist in Title II of the Social Security Act. She is a member of the Administrative Law and Regulatory Practice Section of the American Bar Association, National Organization of Social Security Claimants’ Representatives and the State Bar of Michigan.

Kevin A. Strauss, M.D. Kevin A. Strauss, M.D., joined the Clinic for Special Children in Strasburg, Pennsylvania in 2001 as the second physician and became medical director in 2007. He trained in Boston, Massachusetts at Harvard University and Boston Children’s Hospital. Dr. Strauss oversees all clinical activities for more than 1,200 active patients and has led the clinic to more than 50 peer-reviewed scientific publications, helping to disseminate the clinic’s key findings throughout the world.

Matthew Sware Matthew Sware has worked at the Clinic for Special Children in Strasburg, Pennsylvania, since 2012. After starting his career in business technology, he became a passionate advocate for the clinic’s unique model of care and research and eventually left the for-profit sector. He now works as the clinic’s development director.

Sware’s photography is featured in this issue’s “Family Medicine” story on genetic medicine.

Community Editor's Letter Eva Leonard

This issue of Community focuses on the growing importance of genetic medicine, and what that means for you and your loved ones.

Each person’s genome, or whole group of genes, is 99.9 percent identical to

that of anyone else in the world. Our similarities are greater than our differences,

which make up only 0.1 percent of our DNA. We are all connected, in a very real way.

From Amish and Mennonite families in Pennsylvania whose children are

susceptible to rare diseases, including alpha-1 antitrypsin deficiency, to the world’s

largest Huntington’s disease family in Venezuela, genetic medicine is reshaping the way rare and chronic illnesses are researched, detected, and treated.

For Sharon Terry, president of the nonprofit organization Genetic Alliance,

personal involvement in health advocacy was spurred by her own children’s diagnosis with a rare genetic illness. As Terry says, “We all have some things in our genome that are not perfect.”

The study of those imperfections is vast, complex, and exciting, so breaking it

down makes sense. Our genetic medicine focus will comprise a two-part article, which will continue in the Spring 2014 issue of Community. We begin the focus

in this issue’s interview with Karen Anderson, M.D., director of the Huntington

Disease Care, Education and Research Center at MedStar Georgetown University Hospital.

We hope our genetic medicine focus provides you with helpful information

about genetic counseling, testing, and research, and hope for the genetic

Photo: Charlie O᾽Donnell

discoveries to come.

5

CVC President's Letter Pam Harris

Sometimes the role that genetics plays in our lives brings the joy of recognition. Incredibly, you may have your grandmother’s hands, your father’s eyes, or your mother’s sense of adventure.

It’s easy, however, to be intimidated by the idea of modern genetic medicine, which can seem clinical and frightening when it comes to determining your likelihood of developing, or passing on a disease.

This issue of Community focuses on the very human elements that make genetic

medicine family medicine — when answering the question: “Does it run in the family?”

— can be complex. When you and your family members discuss your family’s medical

history, conversations that might initially appear difficult can ultimately prove to be the most rewarding and liberating.

Genetic testing and counseling are very personal decisions that should be made

while carefully weighing what their outcomes can mean, keeping individual needs in mind. Fortunately, genetic counselors can help you and your family to make important

decisions about the types of conversations and genetic testing you and your loved ones should — or shouldn’t— have.

Family played an enormous role in Harriet Tubman’s remarkable life, one that she

also lived with a debilitating, chronic disease. Her sense of family ran so deep that it fueled her fearless determination to bring her relatives to freedom.

Tubman also treated those in need as her family. She became known as conductor

of the Underground Railroad, and nurse and healer for wounded soldiers, the elderly, and the disabled — caregiver for the family of man. At Caring Voice, we consider you

6

caringvoice.org • Winter 2013 Genetic Medicine Issue

Photo: Taylor Scott

as a part of our family and hope you’ll enjoy her story in this issue of Community.

READERSʼ COMMENTS We’d like to hear from you!

Every person I have dealt with [at CVC] has been very nice, empathetic, resourceful, and kind. This is an organization that I can trust with my illness, and feel I’m not alone. They have always found a solution to everything. You can just tell, that to every single person [who works there] it isn’t just a job. Thank you for being there for us.

Email your feedback and questions to

magazine@caringvoice.org.

— Gerardo Santos, Brea, California .............................................................................................................................

One of the most accessible and helpful nonprofits ever! Thank you, CVC, for all you do!

—Tiffany Gunderman, Santa, Ana, California ..................................................................................................................................................................................................

I was diagnosed with alpha-1 antitrypsin deficiency (inherited COPD). The prescribed treatment is so extremely expensive that I could not imagine how I could ever pay for it. Caring Voice Coalition has been a true blessing, since they have picked up the large monthly co-pay. I am thankful for this wonderful organization every day.

— Barbara Lipford, Ruffin, North Carolina ..................................................................................................................................................................................................

Thank you so very much for the help with my medication. My quality of life is so much better.

— Steve Zimmerman, The Villages, Florida

SOCIAL MEDIA Join the CVC community.

Get support. Meet new friends. Share your stories.

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 www.caringvoice.org.

/CaringVoiceCoalition

@CVCinc

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

Plus

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

Life

Genetic Medicine Surviving CTEPH

Plus

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: www.caringvoice.org/?p=4035 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.)

8

CVC Close Up:

Darryl L. Turner, Jr. Caring Voice Coalition Business Analyst

Photo: Anthony Nesossis

I

grew up in Tappahannock, Virginia, way out in the country, where you see cornfields and wheat fields. One of the values my family instilled in me is the importance of hard work. Be responsible enough to take care of yourself, but don’t be afraid to ask for help. Self-respect and respect for others will take you a long way in life.

If there’s one thing I’d like patients to know, it’s that I care. I may not be experiencing your situation, but I can empathize with you. We all care, and we all listen.

I admire our patients’ strength and their outlooks. Some of them don’t know what the future holds, but they just grab life by the horns and do what they can while they can.

When I was younger, I wanted to be a lawyer. I had a lot of strong people in my family who defended each other and held each other up. I’m not a lawyer, but I’m fighting for the patients, and I’m satisfied.

I come from a big family. I have two sisters and one brother. Our grandparents were the rock of our family. When my grandfather became ill and passed away, it was a very difficult time. But since we are so close-knit, there was always a family member to soften the blow.

I’m a family man. In my spare time, I like to play sports and spend time with my children, coaching their baseball and softball teams. My son, Jayden, is six, and my daughter, Makayla, is seven.

What’s most important to me is being a good role model. My kids are very impressionable. They model themselves after my actions. I’m 24, and I’m married with two children and able to maintain a job that I love.

To work here, you need to be sensitive and empathetic: I get that from my aunt, my mother, and my grandmother. My aunt taught me to help anyone who you can. Never turn your back, because you never know what someone’s story is. Have an open heart to everyone.

My grandmother taught me everything, from how to make my bed and cook, to how to be a respectable young man. She taught me to always be approachable and presentable, so I can be there for anyone—friends or strangers.

For me, a family is a big loving unit—a circle of people who love you and understand you for what you are, and who are always there.

To call our patients ‘friends’ may be an understatement. I call them family.

9

NEWSMAKER

Karen Anderson, M.D.

Karen Anderson, M.D., is director of the Huntington Disease Care, Education and Research Center (HDCERC) at MedStar Georgetown University Hospital in Washington, D.C. Community recently interviewed Dr. Anderson about the challenges of access to care and genetic testing and counseling for Huntington's disease patients and family members.

How can caregivers and patients overcome the challenges of not having close access to experienced care for Huntington’s disease?

They can start by reaching out to their area’s HDSA social worker. The HDSA website keeps a list of community physicians online

“

10

The person being tested and their family should receive genetic counseling.

The person being tested should also see a counselor or therapist, or at least make a connection with one, so that they have the extra support during that time. It can also be very helpful for a family to go to counseling together to address some of the issues.

caringvoice.org • Winter 2013 Genetic Medicine Issue

“

What are some of the issues with access to care for Huntington’s disease?

In many areas, the biggest issue with access to care is geography. In most communities, it is hard to find physicians with experience treating Huntington’s disease. Families and patients often have to travel very far to see an HD specialist.

Our center at Georgetown is the first of its kind in the Washington, D.C. metro area.

In addition to our monthly clinic at Medstar Georgetown University Hospital, we also have a satellite clinic in Olney, Maryland and have plans to expand to McLean, Virginia in early 2014. Th is gives patients closer, more accessible care.

The other major issue that limits access to care is insurance. Because the average onset of HD tends to be mid-career, patients often find themselves out of work and uninsured.

The Social Security Disability guidelines for HD have not been updated in over 30 years, and do not include some of the earlier cognitive symptoms that limit ability to work early on. A person with HD may go through many appeals and spend years trying to get disability. Once they are approved for disability, there is a 24-month waiting period for Medicare benefits.

Our center joins the Huntington’s Disease Society of America (HDSA), the major patient advocacy organization for HD in the United States, to lobby for the Huntington's Disease Parity Act, which would address these issues for many.

that have been known to see people with HD. Both the list of social workers and doctors are available at HDSA.org.

If there is no one near them, then the best recommendation is to find a physician in the community that is willing and able to take the time to work with the patient.

HDSA published “A Physician’s Guide to the Management of Huntington’s Disease” meant to assist in these situations. This book is available free. It is in PDF form online at HDSA.org/publications, or the National HDSA office can be contacted to send a copy. HDSA social workers, or a social worker from an HD Center are also available to help provide education and services to help with the care.

Who should be tested for Huntington’s disease, and when?

Being tested for Huntington’s disease is a very personal decision. Individuals will choose to get tested for a variety of reasons, from family planning, to planning for the future, to confi rming that symptoms are in fact HD. A physician may recommend testing to confi rm symptoms, especially when someone has no known family history of HD, or they have a family history, but no one is their family has ever had confi rmatory testing.

What does the test for Huntington’s disease involve?

The test itself is a simple blood test, but it does need to be sent out to a specialty lab; however the process to get tested is a little more involved. If a person is pre-symptomatic there will be a series of visits that include meeting with a genetic counselor and social worker, as well as evaluations from a psychiatrist and/or a neurologist. In some cases memory testing will also be recommended.

It is important for the person choosing to be tested to be well informed by the care

(Above) MedStar Georgetown University Hospital, Washington, D.C. (Right) Physician George Huntington, who in 1872 wrote a paper describing Huntington’s disease. The condition would later be named after him.

team about HD and have time to process their decision before ultimately being tested.

Once someone receives genetic test results, the information cannot be taken back.

For someone with suspected HD symptoms, testing is generally coordinated through his or her physician. Consultation with a genetic counselor can also be helpful in these cases.

What are some of the issues with family communication about Huntington’s disease and genetic testing, and what strategies might be helpful in addressing those issues?

In past generations, families were not always open about the family history of HD, so when someone started to show symptoms, it was a shock. It is good to encourage patients to be as open within their families as possible.

It is also good to have a plan before going through the process, or receiving results, so that you know, and your family knows, how, or when, you will choose to share those results. It is usually better not to surprise others with this information.

What type of counseling should those being tested for Huntington’s disease and their family members have?

The person being tested and their family should receive genetic counseling. The person being tested should also see a counselor or therapist, or at least make a connection with one, so that they have the extra support during that time. It can also be very helpful

for a family to go to counseling together to address some of the issues.

Why are both care of the whole person and care of the family essential with treating Huntington’s disease?

It truly ends up being a family disease.

Because of the average age of onset, HD can really turn a family upside down. A spouse/ partner may be working full–time, taking care of the children, and being a caregiver.

If we don’t make sure that spouse/partner is taken care of, it can be even more detrimental to a family. This is why our center motto is “Cura Familia”—“Care of the Family.”

Because it is a genetic disease with a 50 percent chance of inheriting it from a parent, often times the caregivers for the person with HD are themselves at risk. For this caregiver that is also at risk, it can take a huge toll on them to watch family member after family member suffer from HD and know that they could be next. By treating the whole person and the whole family, our center is able to provide better care.

What type of Huntington’s disease research is the Huntington Disease Care, Education, and Research Center (HDCERC ) doing?

We are a member of the Huntington Study Group (HSG) and are currently a site for their FIRST-HD trial. We hope to begin enrolling people in this study very soon.

We also are an Enroll HD site, a longitudinal, worldwide observational study, and

hope to being enrolling patients in this study soon too.

Our team also studies patient-reported outcomes — the factors that matter most to patients when looking at potential treatments.

How did your interest in Huntington’s disease develop?

I have always wanted to work with people who have neurological disease. I find the stories of HD families are incredibly compelling and often courageous.

Because the symptoms are so diverse and severe, clinicians can make a positive difference for these families, who are often told there is nothing that can be done for them.

Th is is completely untrue; there is so much that can be done to manage the symptoms and support the families.

HD is also entering a phase when the clinical trials to find treatments are very exciting and novel. I can think of no higher privilege than to work with these incredible families over multiple generations.

CONTACT INFORMATION MedStar Georgetown University Medical Center Huntington's Disease Care, Education and Research Center (HDCERC) 3800 Reservoir Road, N.W. Pasquerilla Healthcare Center (PHC) Washington, D.C. 20007 Website: http://neurology.georgetown.edu/ research/hdcerc Appointment line: 202-444-0816

11

p e t S y b p e St Kathy Anderson describes the long, Kathy Anderson (left) and her sister, Monica. (Facing page) Kathy Anderson difficult path that lead to a diagnosis of chronic thromboembolic pulmonary hypertension (CTEPH) and to the surgery that would save her life.

I

got my fi rst blood clot in my right leg in 1998. I never knew this one little thing would end up altering my future so completely. Within a month, my doctors found 11 unrelated clots in my lungs. By the end of that summer, I had been diagnosed with lupus, fibromyalgia, and antiphospholipid syndrome (APS), a blood clotting disorder.

I was in and out of the hospital over the next few years. Many times when I was there, I was told that I had pleurisy, an inflammation of the tissue around my lungs.

Around 2001, I started getting short of breath very easily. At fi rst I chalked it up to being out of shape and overweight, as did the doctors. I had also been a smoker at one point.

My breathing problems never seemed to go away, but were never debilitating.

Stiff ness in my joints, chest pain, and pain when I took deep breaths would come and

12

go as well. When I told my doctors about my symptoms, they pointed to the three diseases I have, and said that any one of them could be the cause. They never really looked any deeper. We kept trying different medications and combinations.

I got my next blood clot in my right leg in 2006. The doctors decided I had become resistant to my blood thinner and put me on a different one. My breathing never improved, and I started to experience dizziness when I walked too quickly, and to get migraines as well.

Then, in 2009, I was again diagnosed with multiple clots in my lungs. The doctor was having a hard time telling the old clots from the new ones, because I had so many tiny clots. When I produce a clot, it doesn’t travel; it seems to stay put. These clots had been hanging around in my lungs for a while without anyone realizing it.

My doctor put me on a different blood

caringvoice.org • Winter 2013 Genetic Medicine Issue

thinner and said we should be good. And we were, for a while. But in January 2011, I developed two large clots — one in each lung — and I spent a week in the hospital.

It was then that things started to change in ways I could not even begin to imagine.

During this visit, I had an echocardiogram. I had had them before, so I didn’t think much of it. But this particular technician asked about my breathing, whether I had difficulty going up stairs, if I had dizziness — things technicians had never asked me before.

Then my hematologist asked if anyone had ever told me I had pulmonary hypertension. She explained it to me, and I didn’t give it much thought. She gave me the name of a pulmonologist to follow up with, and I went home the next day. My sister went with me to see the doctor, who basically told me, ‘Lose weight. You’re fat. Now get out.’

My sister was appalled, and I looked at her

and said, ‘Welcome to my life.’

A few months later, in April, I was driving home from visiting a friend who lives out of state. About half an hour from home, I began to have really bad, weird chest pains, like I had never had before. Instead of going home, I went to the ER, where they wanted to do a chest CT scan.

They couldn’t get the proper size needle in to do the CT though, so after three tries they sent me home with instructions to see a doctor in the morning. When I went to his office in all this pain, he was shocked that they had sent me home. He sent me downstairs for a CT, and before they even gave me a contrast, he was in the room asking me to go across the street to the hospital. He said he would meet me there. He wanted to do a transesophageal echocardiogram, or a TEE, where they put a camera down your throat to get a better look at your heart.

Thankfully, they put me under for the TEE, and when I woke up, I found out they were admitting me to the hospital.

The doctor explained that I had a good-size blood clot in my heart. He ran more tests and took good care of me before releasing me, but between that April and September, my breathing continued to take a nosedive.

I kept trying to find a doctor who could help me with my pulmonary hypertension, but no one seemed to know much about it.

By September, I could no longer work, although I tried. I couldn’t walk ten steps without having to stop and rest. I was a manager for multiple hotels, taking care of human resources and financial responsibilities, and I loved it. I just couldn’t do it any longer.

When I had to stop working, I lost my health insurance. I applied for Social Security, and I was lucky to be approved the first time out. Once I got my Social Security, I was able to get Medicaid through the state, including insurance. As a single person, with no children, I received $1500 a month in disability and had to give $600 right back to the state each month in order to have insurance. This was still cheaper than private insurance, not that anyone would have wanted to insure me.

In October, I was admitted to the hospital again, and my hematologist looked at me and said, “I’m sorry. There is nothing else I can do for you except make you comfortable. It’s time to start saying goodbye.”

I was forty years old, and she was telling me I was dying. I refused to believe it.

There had to be something we could do.

My sister and my brother took me to a

hospital in Chicago, hoping I would find answers there. The ER doctor on duty told my sister he thought he knew someone who would see me, regardless of my insurance issue. We got home at around 3 a.m. and at around 9 a.m., the ER doctor called with the name and number of a doctor’s nurse.

She was expecting our call and would see us. During my appointment, the doctor

I was forty years old, and she was telling me I was dying.

I refused to believe it.

There had to be something we could do. and his nurse admitted me into the hospital from his office.

He diagnosed me with Class 4 pulmonary hypertension and told me that I was indeed dying, but that there was a thin thread of hope — a surgery to remove clots and scar tissue from the lungs and heart— called a pulmonary thromboendarterctomy, or a PTE. It’s a rare surgery, only offered in a handful of centers in the United States for patients whose PH is caused by blood clots.

But my PH had to be under control before I could have the surgery. The operation lasts between eight and ten hours, and patients are put on bypass for 20 minutes at a time in order for the doctors to achieve a blood-

less field to work in. This was really my only option.

Over the next year, the nurse, Kami, fought for me and for my family like I was her own. I spent a lot of time in and out of University of Illinois Medical Center to the point that some of the techs and nurses knew me on sight. I also got more clots — two in my heart, one in my right arm, and more in my lungs.

They put me on medication that would help me get through surgery, and we were working to get the surgery approved.

Without this surgery, I wouldn’t survive the year. The medication’s side effects were similar to those of chemotherapy, and I got every one of them. I was throwing up, I had bathroom issues, I had headaches, and I lost a ton of weight. For months I barely ate anything as they increased my dosage of medicine as quickly as we could.

As I went through 2012, I continued to get worse and spent most days in bed. My sister, Monica, became my caregiver. She and her two children helped me in ways I will never be able to repay.

My sister and her daughter put their lives on hold for me. Monica quit her full-time job and went back to waitressing and bartending at night so she could take me to the doctor and be with me during the day. My niece, Gina, took care of me when my sister wasn’t there. Between the two of them, someone was always with me.

If I needed water, or help putting on my socks, they were there. There were ER visits and 911 calls, all scary, all necessary. I don’t know what I would have done without my family.

I lived with them before I got sick, and my room was in the basement. When I got sick, I could no longer go up and down the stairs. When I first came home from the hospital, in October 2011, my sister put me in her bed, and she slept on a blowup mattress in the living room for several months until she could move me upstairs. She and the kids rearranged their entire lives for me.

I am eternally grateful.

In August 2012, I was starting to lose hope. I knew that I was dying, but I didn’t want to die, and I was really struggling. At this point, Monica became my biggest cheerleader. She realized that I was sliding into a funk and pushed me when I needed it. She organized a family get together that I think helped me get through the next few weeks.

Then, in September, we learned that the Cleveland Clinic might be able to perform my operation. The CONTINUED ON PAGE 14 13

Left to right: Kathy Anderson prior to surgery. Anderson and her niece, Gina. Cleveland Clinic, Miller Family Pavillion.

Anderson after surgery.

doctors believed that I was a good candidate and approved me. Now all we were waiting on was the state of Illinois.

Earlier in the year, I had emailed one of our state senators, Senator Pamela Althoff.

Her aide, Cathy, fought for me as well. They were able to reach out to people I didn’t know or couldn’t contact. Now we needed her most. We needed the state to approve the surgery, or I would die within a couple of months.

The biggest holdup was that the surgery would be done out of state. And it would not be cheap. It costs about as much as a heart transplant, and once approved, it would set a precedent for future requests.

All of our fighting, all of our hope had come down to this.

Then we got the call. I was approved. It took all I had just to sit there. I think at fi rst I was in shock. The next challenge was how to get me to Cleveland. I was on eight liters of oxygen a day, and the state was not paying for transportation.

My sister rented a car, since ours was not completely reliable. She put me in the rental car with a bunch of oxygen tanks and drove me to Cleveland. She drove ten hours, got me admitted, made sure I was okay, then turned around and drove ten hours home to make sure she was there to see her kids off to school the next day. She is one hell of a woman.

We weren’t sure I would make it. We were worried that my heart wasn’t strong enough, but I was determined.

After surgery, my doctors were able to remove my medication within days. There were huge, remarkable changes right away.

I went from needing eight liters of oxygen a day to two liters.

The fi rst few days after the operation, I was sore and in pain, but when I woke up, it was a whole new world. I could breathe again. It changed everything. I was walking the halls while I was there.

I spent a total of six weeks in the Cleveland 14

Clinic. They really take care of their patients.

I still sleep with the heart pillow they gave me.

Now I’m home and on my way to getting better. They removed most of the clots and scar tissue. PH was not my only issue, but I’m on the road to recovery. I only use oxygen at night when I sleep.

I’m hoping that I can go back to work in six months. I got my Masters while I

The biggest holdup was that the surgery would be done out of state. And it would not be cheap.

It costs about as much as a heart transplant, and once approved, it would set a precedent for future requests.

All of our fighting, all of our hope had come down to this.

caringvoice.org • Winter 2013 Genetic Medicine Issue

was sick. Hopefully, I can teach online.

I’m doing a lot of work for PHA, being an e-mail mentor for them.

APS is a blood clotting disorder. When patients have clots in the lungs, they’re automatically at risk for PH. It seems like hematologists aren’t thinking about it; they aren’t putting the two together.

Pulmonary hypertension diagnoses are being missed. The average delay now for a PH diagnosis is three years. Why not let people with clotting disorders know that they’re automatically at risk for PH? It could save lives. Had my hematologist known about PH and its symptoms, I could have been diagnosed a lot sooner.

It’s important to get that information into hematologists’ and rheumatologists’ hands.

A simple echocardiogram could show elevated pressure. It takes a few seconds and hardly costs anything, so why aren’t they checking for it?

I can walk now — half a mile, or around the block if I want. For me, that’s huge.

I hadn’t been able to do that in years. I can cook a simple meal. I can walk one fl ight of stairs, slowly, but I can do it. I have those other conditions, so it takes me longer than some.

I’m getting more active, back into doing things I love to do. I’m back at church as a youth director for seven-to twelve-year-old boys. They’re a lot to handle, but I wouldn’t trade them for the world. Those are my kids.

We’re hoping this is it for surgery, as long as we can keep my clotting under control.

We’re keeping our fingers crossed.

Although I can’t drive because of the medication I’m on, in my spare time, I like reading and crocheting. Last Christmas, everyone got scarves. I also like to draw, play Scrabble, and do puzzle books.

I’ve given sermons at church. We share our pastor with another church, so we take turns doing sermons. It’s kind of scary getting up there. But I can’t just sit still.

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: www.PHAssociation.org/SpecialtyPharmacyResponseForm www.caringvoice.org or by calling 301-565-3004 x773

Vision

Photo: Library of Congress

Community unfolds the remarkable life of the Underground Railroad’s fearless conductor, Harriet Tubman, who suffered during much of her life from a chronic, debilitating disorder. Eva Leonard reports.

16

caringvoice.org • Winter 2013 Genetic Medicine Issue

(Above) Freedmen laborers at Quartermaster’s Wharf, Alexandria, Virginia. African-American dockworkers and mariners taught Harriet Tubman to follow the North Star to freedom. (Below, right) A two-pound counterweight of the type that fractured Tubman’s skull, causing her life-long disability.

Harriet Tubman Sites Bucktown Village Store 4303 Bucktown Road Cambridge, MD 21613 Tel. 410-901-9255

This replica of a nineteenth-century general store occupies the site where, as a teenager, Harriet Tubman received the blow to her head that brought on the seizures and hallucinations that would continue throughout her life.

The Harriet Tubman Museum and Educational Center

Harriet Tubman Home for the Aged 180 South Street Auburn, NY 13021 Tel. 315-252-2081 www.harriethouse.org

424 Race Street Cambridge, MD 21613 Tel. 410-228-0401 www.harriettubmanorganization.org

The Harriet Tubman Underground Railroad National Monument

The monument will also include the home site of Jacob Jackson, a free black man and Underground Railroad agent who used coded letters to help Tubman communicate with family and others.

Photo: National Park Service

On March 25, 2013, President Obama designated 480 acres adjacent to Blackwater National Wildlife Refuge on Maryland’s Eastern Shore as the Harriet Tubman Underground Railroad National Monument. In partnership with the National Park Service, the state of Maryland will open the Harriet Tubman Underground Railroad Visitor Center at Blackwater in 2015. The monument will include portions of Stewart’s Canal (pictured), the hand-dug waterway Harriet Tubman’s father, Ben Ross, helped build as a slave.

17

Photos: Center left and right: Eva Leonard

Photo: Mathew Brady, U.S. National Archives and Records Administration

A

R A MINTA ROSS, WHO later become known as Harriet Tubman, “the Conductor of the Underground Railroad,” “General Tubman,” and “Moses,” was born to Benjamin Ross and Harriet Green, one of nine children, sometime between 1820 and 1824 in Dorchester County, Maryland, on the plantation of Anthony Thompson.

Tubman’s birth year is uncertain, however a record of a payment to a midwife indicates that it was probably 1822. As an adult, she took her mother’s name, “Harriet,” and the surname, “Tubman,” when she married John Tubman.

Tubman’s father was enslaved by Thompson, while she, her mother, and her siblings were enslaved by Thompson’s stepson, the farmer Edward Brodess. As a very young child, Araminta, who was known as “Minty,” was put to work. Brodess hired her out to other landowners, who treated her cruelly, brutally whipping her, and leaving deep scars. Even when sick with measles, Tubman was forced to haul muskrat traps through frozen swamps, wearing no shoes, her feet only covered with cloth.

As a teenager, following a severe head injury — the result of her efforts to protect another slave —Tubman developed a lifelong, chronic condition, with debilitating symptoms that have been described as being similar to those of narcolepsy and temporal lobe epilepsy.

At the local general store, she had encountered an unidentified young male slave, there without permission. An overseer ordered Tubman to restrain the young man, and hurled a two-pound counterweight at him.

Instead, after he darted out of the store, Tubman blocked the doorway. The weight hit Tubman in the head, fracturing her skull and nearly killing her.

Recovering from the blow without medical care, she was forced back to work only two days later, as her head bled from the injury. After the injury, Tubman began to experience uncontrollable episodes, which could happen several times a day, as she fell into a motionless, dream-like state, lasting from half an hour to an hour, during which she hallucinated.

The attacks occurred without warning, even in the middle of conversation. When an attack ended, she resumed the conversation where it had stopped. Tubman described the hallucinations as “visions,” in which she sometimes saw herself flying above the earth and over water.

Kate Larson, C O N T I N U E D O N PAG E 1 8

Photo by R. Kennedy for GPTMC

Photos: Center, right by Eva Leonard

Underground Railroad Sites

Johnson House

6306 Germantown Avenue Philadelphia, PA Tel. 215-438-1768 www.johnsonhouse.org This still-intact stop on the Underground Railroad was home to a Quaker family who helped fugitive slaves, some brought by Harriet Tubman, escape to freedom.

author of “Harriet Tubman, Portrait of An American Hero: Bound for the Promised Land,” says that during these states, Tubman also heard the sounds of voices, screams, music, and rushing water, and felt as though her skin was on fi re, while still conscious and aware of what was going on around her. She also experienced extreme, debilitating headaches, and became increasingly religious after the injury.

Initially, Tubman’s injuries made it difficult for her to work and lowered her value as a slave, and she was returned to Brodess.

But she grew stronger as she recovered and worked digging out stumps, plowing fields, chopping wood, and hauling timber.

In 1844, at the age of 25, she married John Tubman, a free black man. When Edward Brodess died in March of 1849, he left his wife, Eliza, deeply in debt. Fearful that Eliza Brodess would further split up her family by selling them South to work on chain gangs to pay the debt, Tubman escaped to Philadelphia later that year. (She had watched her two older sisters, Linah and Soph, sold out of state as part of a chain gang when she was younger.)

She traveled the approximately 90 miles to Philadelphia on foot, at night, following the North Star, which she had learned of from the African-American dockworkers and mariners she befriended as she loaded and unloaded produce at the wharves.

The mariners served as a vital link in the Underground Railroad’s communication network, delivering coded messages and 18

Poplar Neck, Maryland Harriet Tubman sometimes worked in Poplar Neck, where her parents lived. In 1849, she and her brothers, Henry and Ben, fled from this area. In 1856, Josiah Bailey rowed a rowboat six miles to meet Tubman near this spot so that she could take him north to escape from slavery.

providing information about the outside world for those seeking freedom.

On her way to Philadelphia, Tubman stopped at Underground Railroad safe houses, where she was fed, sheltered and directed to the next house by Quakers and black and white abolitionists.

Tubman described her emotions on finally crossing the border into the free state of Pennsylvania: “I had crossed the line of which I had so long been dreaming. I was free, but there was no one to welcome me to the land of freedom. I was a stranger in a strange land, and my home after all was down in the old cabin quarter, with the old folks, and my brothers and sisters. But to this solemn resolution I came; I was free, and they should be free also; I would make a home for them in the North and the Lord helping me, I would bring them all there.”

In Philadelphia, and in Cape May, New Jersey, Tubman found work as a domestic, and as a cook in hotels, earning money to return to Maryland and bring her family to freedom.

In 1850, Tubman made her fi rst trip back to Maryland to retrieve her niece and her niece’s son and daughter. In 1851, she came back for her husband, John Tubman, but discovered that he had remarried and did not want to join her. Instead, she found a group of slaves eager to leave, and brought them to Pennsylvania with her.

During an estimated 13 trips, over the course of a decade, Tubman brought at least 70 slaves, including many family mem-

caringvoice.org • Winter 2013 Genetic Medicine Issue

Hunting Creek

Preston, MD www.carolinehistory.org Hunting Creek marks the border between Maryland’s Dorchester and Caroline counties. Caroline County was home to a sizable Quaker community that gave refuge to runaway slaves as they made their way along the Underground Railroad. Hunting Creek likely provided a safe crossing point into Caroline County.

bers, to freedom, never losing a passenger. Following the passage of the Fugitive Slave Act of 1850, it was no longer safe to end the journey in the northern states, so Tubman began to bring her passengers to Saint Catharines, Ontario, Canada, where she moved in 1851.

In 1854, Tubman sent a coded letter through a friend to Jacob Jackson, a free, literate black man who lived near Tubman’s family in Maryland. The letter alerted Tubman’s three brothers to her plans to return and bring them back with her to Philadelphia. In 1857, she also brought her elderly parents to freedom.

Tubman led her escapes at night, following the North Star, using a variety of strategies to evade detection and capture. On one trip she disguised herself as a man, and

“ The midnight sky and

the witnesses of your d your heroism. ”

on another, she carried chickens to make it look as though she were running errands.

She sometimes wore a silk dress to appear a free, middle-class woman, and she often led Saturday night departures because “Wanted” posters could not be printed until Monday mornings, giving her a one-day head start.

and the silent stars have been

r devotion to freedom and of —

Frederick Douglass

Disguising herself as a sick, elderly woman, she performed reconnaissance for the Union army in Confederate towns.

In 1863 Tubman scouted and planned for the Raid at Combahee Ferry, com-

manded by Colonel James Montgomery, and led 300 black soldiers during the raid, which freed more than 700 slaves in South Carolina. Tubman also recruited volunteers for John Brown’s raid on Harpers Ferry, West Virginia, but was unable to join the raid.

In 1869, Tubman married Union Army veteran Nelson Davis, whom she had met in Auburn. Despite her own accomplishments, Tubman was for many years denied her own military pension, although she received one as Davis’ widow after he died.

She finally was granted one for her own service in 1899.

Sometime during the late 1890s, Tubman had brain surgery at Boston’s Massachusetts General Hospital to relieve the pain she had dealt with much of her life from her childhood injury. Although details are scarce, the operation gave her some relief from the symptoms caused by the blow she had received some 60 years earlier.

I n 1 9 0 8 , Tu b m a n founded the Harriet Tubman Home for the Aged in Auburn, New York. Her friend and neighbor Helen Tatlock said that at her home, Tubman took care of “the demented, the epileptic, the blind, the paralyzed, [and] the consumptive.” When Tubman herself grew frail, she would be cared for in the home she had established.

When Harriet Tubman died of pneumonia in 1913 in Auburn, New York, she was buried with full military honors at Fort Hill Cemetery. Nearly fifty years earlier, the abolitionist Frederick Douglass, had written in a letter to Tubman: “The difference between us is very marked. Most that I have done and suffered in the service of our cause has been in public, and I have received much encouragement at every step of the way. You, on the other hand, have labored in a private way. I have wrought in the day — you in the night. ... The midnight sky and the silent stars have been the witnesses of your devotion to freedom and of your heroism.”

19

Photo: Harriet Tubman by Squyer, National Portrait Gallery

Tubman carried the drug paregoric to prevent babies from crying during the trip. She also packed a pistol as protection against slave catchers, and as a warning for passengers who might be tempted to abandon the escape and turn back. Tubman was fearful that if they did turn back, they would divulge what they knew about the Underground Railroad.

In a December 29, 1854 letter, Thomas Garret, Wilmington, Delaware Underground Railroad Stationmaster wrote to J. Miller McKim: “We made arrangements last night, and sent away Harriet Tubman, with six men and one woman to Allen Agnew’s, to be forwarded across the country to the city. Harriet, and one of the men had worn the shoes off their feet, and I gave them two dollars to help fit them out, and directed a carriage to be hired at my expense, to take them out....”

In 1859, Tubman moved to Auburn, New York, purchasing a house from her friend, Senator William H. Seward, and bringing her parents with her. She would also open her home to other relatives, as well as friends and former slaves.

After the Civil War began in 1861, Tubman worked with the Union Army in South Carolina, Virginia, and Florida as a scout, spy, leader, and nurse.

Known for her abilities as a healer and a caregiver, Tubman brought ill soldiers back to health, using herbal treatments she knew from growing up in the Maryland countryside, and drugs she had learned about from Edward Brodess’s stepbrother, a doctor who ran a pharmacy. To heal soldiers who were sick, and in some cases, dying, from dysentery, she treated them with a tea she brewed using herbs and roots with medicinal properties.

Family Medi S

INCE THE 1990 INITIATION OF the Human Genome Project to map the human genome, and its completion in 2003, the pace of genetic research has steadily accelerated. Most diseases have a genetic component, but, according to the CDC, “researchers have identified only a small fraction of the genetic component of most diseases.”

Perhaps nothing better illustrates the surge in public interest in genetics than the best-selling status of 2010’s “The Immortal Life of Henrietta Lacks,” in which author Rebecca Skloots compellingly chronicles the true story of Lacks, a young woman with cervical cancer, whose tumor cells were taken and cultured by a researcher, without her knowledge or permission.

Lacks died in 1951 at the age of 31, and in the six decades since, her tumor cells— which are “immortal,” and unusual in that, unlike most cells, they keep growing and multiplying in lab culture—have been used to establish the HeLa (for Henrietta Lacks) cell line. The HeLa cell line has helped researchers study and develop treatments

for diseases including polio, cancer, hemophilia, AIDS, Parkinson’s disease, and leukemia, It’s estimated that more than 50 million metric tons of HeLa cells have been grown for use in invaluable lifesaving medical research worldwide since Lacks’ death.

Lacks’ family was unaware that the HeLa cells were being used for research until the 1970s. In August 2013, NIH and the Lacks family announced an agreement allowing biomedical researchers controlled access to the data gathered from study of the HeLa genome, and the Lacks family a role in the work being done. Researchers who use or generate data from HeLa cells will now be asked to include in their publications an acknowledgement and expression of gratitude to the Lacks family for their contributions.

Lacks’ story has generated so much interest that Oprah Winfrey plans to produce an HBO screenplay adaptation of the book.

Beyond Hollywood, this prompts the question: How do genetics affect patients and families living with chronic and rare diseases?

Photo facing page: Matthew Sware

The role of genetics— in researching, predicting, diagnosing, preventing, and treating rare and chronic illness—is dramatically expanding. Community asked leaders in genetic medicine what that means for you and your loved ones. Eva Leonard reports.

(Top, left) Cover of “The Immortal Life of Henrietta Lacks.” (Above) HeLa cells. (Facing) Dr. Kevin Strauss (right) and Dr. Holmes Morton (center) of the Clinic for Special Children, and a young Menonnite patient (left) at a Shippensburg, Pennsylvania benefit auction for the clinic.

20

caringvoice.org • Winter 2013 Genetic Medicine Issue

Sharon Terry, President and CEO of the nonprofit health advocacy organization, Genetic Alliance, found herself drawn into genetic research advocacy when her own children were diagnosed with the rare genetic condition pseudoxanthoma elasticum (PXE) in 1994.

Their children’s diagnosis led Terry and her husband Patrick to found the research

Photos, HeLa cells: NIH

Personal Power

dicine

advocacy organization, PXE International, eventually resulting in the discovery of the gene associated with PXE. Terry recalled, “My husband and I felt that if we didn’t do something, nothing would be done.”

Terry believes that genetic research will have a profound impact on health care over the next decades. “We will have a much better understanding of disease,” she said.

“We’re also going to be able to understand what role environment plays.”

“We all have some things in our genome that are not perfect. We believe that the individual needs to be empowered. We offer

tools to help them deal with it,” Terry said, and tools to answer the question, “‘How do I get involved in research?’”

Genetic Alliance’s goal, Terry said, is “that we get better at finding ways of empowering people. We want treatments for all of these diseases. We want to accelerate people getting the services they need.”

Family History When Venezuelan physician Americo Negrette arrived in San Luis, Venezuela in 1952 to begin his rural internship, he observed the uncontrolled movements and

unsteady gait of many of the residents of several insolated, impoverished villages along the shores of Venezuela’s Lake Maracaibo.

Negrette initially thought they were intoxicated. Locals called the condition “el mal de San Vito” (the sickness of St. Vitus).

Negrette was intrigued and began researching the illness among the local population. Through his studies, Negrette determined that “el mal” was in fact Huntington’s disease.

In 1968, psychoanalyst Milton Wexler founded the Hereditary Disease Foundation when his wife, C O N T I N U E D O N PAG E 2 2 21

Modern Family

T

Photos this page by Matthew Sware

(Above) The Clinic for Special Children, Strasburg, Pennsylvania. (Below) Dr. Holmes Morton speaking at a Miffl inburg, Pennsylvania benefit auction for the Clinic for Special Children

Leonore, was diagnosed with Huntington’s disease. Four years later, Negrette’s colleague, Ramon Avila-Giron, presented a fi lm about one of the Venezuelan HD villages to attendees of a Huntington’s disease symposium. The audience was astounded, having never before seen such a large concentration of Huntington’s patients. Leonore and Milton Wexler’s daughter, Nancy, was in the audience.

Leonore Wexler succumbed to Huntington’s disease in 1978. The next year, Nancy Wexler began a 20-year study of the families living around Lake Maracaibo. They would later become known as the world’s largest Huntington’s disease family.

Over the course of the next decades, Wexler and her team studied more than 18,000 residents of the area, mapping their vast family tree, and collecting more than 4,000 blood samples. They ultimately traced the gene’s origins in the region to one common ancestor, Maria Concepción Soto, who died from Huntington’s disease in 1880, and who might have inherited the HD gene from a European sailor who was her father.

In 1983, as a result of their research on the Venezuelan families, Wexler and her team discovered the location of the gene that causes Huntington’s disease, and in 1993 they isolated the Huntington’s gene.

The discovery of the HD gene led to the development of the HD test, which can determine whether pre-symptomatic individuals will develop the disease. The blood samples collected by Wexler have also helped map genes for diseases including familial Alzheimer’s disease, amyotrophic lateral sclerosis (ALS), and kidney cancer.

22

oday, modern genetic technology is helping treat communities whose ways of life are deeply rooted in tradition. Built and supported by Amish and Mennonite families, the Clinic for Special Children was founded in 1989 in Strasburg, Pennsylvania by D. Holmes Morton, M.D., and his wife, Caroline.

During Dr. Morton’s research fellowship at Children’s Hospital of Philadelphia, his diagnosis of an Amish boy’s illness led to the discovery of 16 other Amish children in the same community with the same rare disorder, known as “Amish cerebral palsy,” which was actually glutaric aciduria type 1 (GA1).

Learning that Amish and Menonnite children can be particularly vulnerable to certain genetic disorders, including alpha-1 antitrypsin deficiency and complex partial epilepsy, the Mortons decided to establish the Clinic for Special Children. The clinic is dedicated to researching and treating the rare diseases found in these communities, aiming to prevent disability and early death, and to do so locally and inexpensively, with state-of-the-art technology.

Community spoke with Kevin A. Strauss, M.D., Medical Director of the Clinic for Special Children about the clinic’s genesis and mission.

After the clinic set up local pediatric services, it very quickly became clear that a number of other diseases in this population would be amenable to this kind of approach. We deal with more than 140 rare genetic diseases, and we discover on average four genetic diseases every year.

We’re supported by, and here to serve,

caringvoice.org • Winter 2013 Genetic Medicine Issue

(Above) Kevin A. Strauss, M.D., Medical Director, the Clinic for Special Children

uninsured Amish and Mennonite patients.

We’re trying to find the most robust, affordable and rapid technologies for our populations.

One of our guiding principles is that we’re continually trying to utilize biomedical diagnostics to deliver better services to patients. We have a Ph.D. molecular geneticist on staff and can do very affordable molecular testing.

For our alpha-1 patients, we do a 45-minute test for $50, using light scanner technology and thermocycling for high-res genotyping analysis. It’s a very simple DNAbased test, and it’s cheaper than doing serum enzyme testing. I don’t think a lot of people are using this technology.

Alpha-1 is more common in the Amish and Mennonite communities than what you would find in the general population. The Amish and Mennonites are what you call ‘founder populations.’ In the late 1600s, they began migrating from Switzerland to the U.S., but very few of them survived the voyage.

Approximately 100 couples are the sole

Genetic Counseling genetic stock for the approximately 30,000 Amish in Lancaster County, Pennsylvania.

They’re small gene pools for large populations. There is a higher incidence of some diseases within these populations, because carrier status gets carried on.

Complex partial epilepsy is not a single entity, but multiple different genes and it’s probably the fourth or fifth most common diagnosis in our patients.

There are different genetic risks based on ethnicity. There are also certain genetic diseases they don’t get. Cystic fibrosis, for example, is unheard of in Amish and Mennonite patients.

Although the Amish and Mennonite are averse to technologies that are divisive, like iPods, they are accepting of technologies that are life-affirming and beneficial to the children and the community. They are very willing to participate in clinical research. More than 70 published papers have come out of research that we have done here.

What I find most striking about the clinic is that it’s a model for traditional old-fashioned medicine, caring for the individual on a local, low-cost basis, during the most astonishing revolution in human biology.

At no other time in modern medicine have we had this opportunity to determine a person’s health risk before they develop symptoms. All of that progress can be leveraged to benefit the patient. The communities we serve are providing us with lessons about how we can choose to use technology, and how our values guide our science.

The CDC reports that, "genetic tests have been developed for more than 2,200 diseases, of which 2,000 are currently available for use in clinical settings."

Community spoke with Rebecca J. Nagy, President of the National Society of Genetic Counselors about the importance of genetic counseling for those undergoing genetic testing.

genetic condition can be difficult and emotional. It may also have implications for other family members.

By seeing a genetic counselor before testing, individuals and families can make an informed decision about whether testing is the right choice for them and can also be provided with information about the likelihood that their condition is hereditary and What are the different types of genetic whether or not genetic testing would be helpful. counseling?

If genetic testing is ordered, genetic Genetic counselors care for patients and families with a variety of conditions counselors can help the individual/famthat cover the entire lifespan. Prenatal ily understand what the results mean genetic counselors work with indifor them and their family, and they can viduals who have concerns around a work together with the physician to pregnancy that may be at increased make sure proper medical managerisk based on family history, exposures ment recommendations and/or treatment plans are put in place. or the mother’s age.

Pediatric genetic counselors work Genetic counselors can also provide closely with physicians and see infants the family with support and resources and children who may to help them cope with the have a genetic condition. diagnosis, if necessary. For The physician works to example, genetic counobtain the correct diagnoselors can help the famsis, and the genetic counily identify other families selor is there to help the who have a child or famfamily understand what ily member with the same this diagnosis means for diagnosis and can identhe child and the family, tify advocacy and support for future pregnancies and groups that can provide other family members. ongoing information and support.

Some genetic counselors work in the adult setThey can also coorting, seeing patients who (Above) Rebecca J. Nag y, dinate referrals to other the National Society have concerns about a President, specialists and can be an of Genetic Counselors family history of heart disongoing resource if new ease, cancer or other adult onset condidevelopments are made in the field. tions. All of these clinical genetic counMany of my patients will check back selors (prenatal, pediatric and adult) in with me each year to see if there is anything new that they should know provide support and resources to the about their diagnosis or the treatment family while they are coping with and for their condition. adjusting to their diagnosis.

Finally, there are many genetic counWhat should patients, families, and selors who work outside of the clinicaregivers look for when selecting a genetic counselor? cal setting. Some work in laboratories You can find a genetic counselor in and serve as a conduit between the lab and physicians, helping them underyour area by going to NSGC.org and stand what specific test results might clicking on the Find a Counselor tool.

This provides a listing of board certimean. Many genetic counselors are involved in research, public health or fied/board eligible genetic counselors. administration.

Board eligible counselors have comWhen should genetic testing for rare pleted training at an accredited genetic and chronic diseases be accompacounseling training program and are elinied by genetic counseling, and why? gible to sit for their certification exam, Learning that you or your child has a which is C O N T I N U E D O N PAG E 2 4

23

offered twice a year. Board certified genetic counselors have also graduated from an accredited program and have passed this certification exam.

What tips can you provide for talking to family members about the need for genetic testing and counseling?

When approaching family members about the need for genetic counseling or testing, it is important to understand that not everyone in your family will want to undergo testing and counseling. And those that do undergo testing may not make the same decisions about what they wish to do with the information.

Sharing the information with family members and helping them find a genetic counselor is enough. Family members can then make their own choices about whether testing and counseling is right for them.

Many times, genetic counselors will provide patients with a family letter that explains what testing has been done, what it might mean for family members and

how to find genetics professionals in their area. This is an easy way to communicate with family members and it takes the burden off of the patient to have to contact everyone by phone and have what may be a difficult or awkward conversation.

What role do you see genetic testing and counseling playing in medicine over the next 10 to 20 years?

The demand for genetic counseling and testing will continue to rise. Genetic testing is now a part of mainstream medicine and is already being used to help diagnose and treat diseases differently than we did even five to 10 years ago.

I see this trend continuing and expanding out into other areas. Given new testing technologies such as whole exome and whole genome sequencing, genetic tests are so much more complex, which makes the interpretation of test results more dif-

Photo: Matthew Sware

Genetic Counseling continued

(Above) Blood samples at the Clinic for Special Children

ficult. It will be critical for individuals and their families to have access to genetics professionals who can interpret this complex information for them.

Look for Part II of “Family Medicine” in the Spring 2014 issue of Community, featuring interviews with rare disease specialists, including Columbia University’s Wendy Chung, M.D., who discusses genetic research on pulmonary hypertension.

Genetic Medicine Resources The Genetic and Rare Diseases Information Center (GARD)

Created by NIH in 2002 to help people find useful information about genetic and rare diseases, GARD provides immediate, virtually round-the-clock access to experienced information specialists who can furnish current and accurate information— in both English and Spanish .

GARD has information on: • What is known about a genetic or rare disease • What research studies are being conducted • What genetic testing and genetic services are available • W hich advocacy groups to contact for a specific genetic or rare disease.

• What has been written recently about a genetic or rare disease in medical journals

The Genetic and Rare Diseases Information Center (GARD)

P.O. Box 8126 Gaithersburg, MD 20898-8126 Toll-free: 1-888-205-3223 http://rarediseases.info.nih.gov/GARD E-mail: GARDinfo@nih.gov

24

caringvoice.org • Winter 2013 Genetic Medicine Issue

Genetic Alliance

This nonprofit health advocacy organization is committed to transforming health through genetics and promoting an environment of openness. Genetic Alliance’s www.genesinlife. org website provides information about health and genetics.

Genetic Alliance offers “Does It Run in the Family?” a free online booklet that families and communities can download at www.familyhealthhistory.org and customize to use in collecting family health history.

National Human Genome Research Institute Communications and Public Liaison Branch National Institutes of Health Building 31, Room 4B09 31 Center Drive, MSC 2152 9000 Rockville Pike Bethesda, MD 20892-2152 Tel. 301-402-0911 www.genome.gov/Patients

National Society of Genetic Counselors 330 N. Wabash Avenue, Suite 2000 Chicago, IL 60611 Tel. 312-321-6834 www.nsgc.org

What’s New Q & A

WisdomBox What is WisdomBox, and what does it do?

WisdomBox gives you the opportunity to make a difference in the lives of your loved ones by sharing your experience and advice, your stories, your hopes and aspirations for their future— in short, all the wisdom of a life welllived. WisdomBox is an iPhone and iPad application with an easy-to-use legacy toolkit that guides you through recording your thoughts, reviewing your video recording, and then choosing with whom to share your message and when—including far into the future.

(Above, left to right) WisdomBox founders Asad Shah, Kim H. Nguyen and Howard Simon. (Below) The WisdomBox app

For example, you can make a recording today to be shared with your child on a milestone birthday yet to come. We want WisdomBox to be a "homing device" for support and for healing —a way to communicate and convey meaningful, loving (and sometimes even difficult) thoughts and feelings to the people you care about most.

How is WisdomBox accessible?

In order to create and record messages to share, users must have an Apple mobile product (iPhone or iPad) connected to the iTunes store, and must download the WisdomBox app (the app is free). In time, we will make WisdomBox available for Android and other mobile platforms. WisdomBox messages can be viewed on both desktop and mobile devices.

What guarantee do readers have that WisdomBox and readers' personal messages, videos, and photos will be secure and available in the future?

At WisdomBox, we take to heart our responsibility to protect messages to and from loved ones. We have partnered with Amazon and are using Amazon’s S3 technology—the most trusted and reliable in the business—to store and distribute WisdomBox videos. We are confident that our users’ information will be stable, safe and secure for years to come.

What is the cost to acquire more time once the initial recording time has been used up?

New WisdomBox users can create, store and share their first two videos for free. This means users can record and save two separate two-minute messages, and choose when, and with whom, to share them, at no cost. Each additional two-minute video costs $1.99 to record, save, and share. Payment is made via the app directly through the iTunes store. We will be rolling out other options (that we think are pretty exciting!) for users to get more recording time for free while simultaneously helping others.

How do I download WisdomBox? To download WisdomBox, please search the iTunes store under "WisdomBox" or go to https://itunes.apple.com/us/app/wisdombox/id732617991?mt=8.

Please visit our website at www.mywisdombox.com. You can contact the WisdomBox team any time at support@mywisdombox.com. We look forward to your feedback and to making WisdomBox a meaningful part of your life!

Legal Corner

Genetic Protection CVC Health Care Attorney Stephanie Posuniak explores how GINA and the Affordable Care Act protect you and your genetic information.

I

n 1999, Terri Seargent was performing well at a small reinsurance company and expecting a raise.

But in April of that year, she received a call from her doctor that she was not expecting. Her doctor told her that the rare genetic disease, alpha-1 antitrypsin defi ciency, was causing her chest pain, shortness of breath, and fatigue.

Seargent felt a mix of emotions, including shock, confusion, relief, and fear. How would she cope? How would her family react? The least of Seargent’s worries was her employer’s reaction. However, her employer’s response would become the linchpin of her next 10 years.

Seargent did get the raise she anticipated. However, a month later, her employer, after learning of the diagnosis, terminated Seargent’s employment.

As with many hardships, this loss spurred Seargent’s passion. She began advocating for the prevention of genetic discrimination, a fi ght that eventually led her to Capitol Hill and the White House. In 2001, she partnered with Senators Tom Daschle and Edward Kennedy, leading to the 2008 passage of the Genetic Information and Nondiscrimination Act (GINA), a landmark bill for the prevention of genetic discrimination.

GINA Title I GINA contains two sections, or titles. Title I essentially forbids insurers from using your genetic information to deny insurance coverage, or from infl ating premiums based on your genetic information. Title I also forbids health insurers from adjusting contributions based on genetic information.

Genetic information includes any information about an individual’s or family member’s tests, requests or receipts of genetic services, or participation in research studies. GINA protects the following classes of individuals:

▪

26

caringvoice.org • Winter 2013 Genetic Medicine Issue

An individual who is discriminated against based on his or her genetic information when it comes to health insurance and employment

(Facing page) A silhouette of a scientist viewing DNA sequencing gels. (Above) Four generations of a family. Photos: National Cancer Institute

▪ Any person who is a dependent of the individual as the

result of marriage, birth, adoption, or placement for adoption Any first, second, third or fourth degree relative of the individual, or a dependent of the individual (such as parents, siblings, children, aunts/uncles, nieces/nephews, grandparents, great-great grandparents, first cousins onceremoved, and more) The fetus of the individual or family member who is a pregnant woman The embryo legally held by the individual or family member using assisted reproduction

▪ ▪ ▪

Something important to note about GINA is that it is limited to health insurance and Medicare; therefore, other types of insurance, such as life insurance and disability insurance, do not need to comply with GINA and can thus use your genetic information to determine eligibility.

The Affordable Care Act (ACA) piggybacks on this concept by requiring private health insurance issuers to vary premiums only based on certain factors such as age and geographic region.

The ACA also prohibits health insurance issuers from denying coverage based on pre-existing conditions, which becomes generally applicable to all enrollees in 2014.

Finally, the ACA requires group and individual health insurance issuers to provide coverage on a guarantee-issue and guarantee-renewal basis, which essentially means that insurers must accept all qualifying applicants. For those insurers providing coverage through the Exchanges, the ACA also mandates the premium rates for these plans.

GINA Title II Title II of GINA forbids employers from using your genetic information when making hiring, firing, promotion, and other employment decisions. The following classes of employers must comply with Title II of GINA:

▪ ▪ ▪ ▪

Private employers with 15 or more employees Employment agencies Labor unions Joint labor-management training programs

Title II also makes it illegal for an employer to harass a person based on his or her genetic information. Harassment means any type of pervasive behavior creating a hostile work environment or resulting in an adverse employment decision, such as a firing or demotion. GINA also limits the ability of an employer to obtain genetic information, except in the following instances:

▪ Inadvertent acquisitions ▪ For wellness programs ▪ For FMLA (Family Medical Leave Act) purposes ▪ Information obtained through commercially or publically▪ ▪

available documents; Genetic monitoring programs such as substance abuse tests; and DNA testing for law enforcement purposes

GINA and the ACA have different aims, and neither specifically references the other; however, both are relevant and widely applicable to insurers and employers. Together, both laws assure that neither health insurance issuers nor employers may discriminate based on your genetic information, something Seargent says was her main goal: to help people get genetic testing without losing their security.

Do you have legal questions?

Send them to magazine@caringvoice.org, and we’ll answer them here.

27

In Your Words with Adrienne Altamirano

Adrienne Altamirano describes her young son Noah’s struggles with the infantile spasms that resulted from his tuberous sclerosis.

W

hen we first had Noah, he seemed to always be crying, but it was not a typical newborn cry. He hardly slept.

When he was about four months old, he started having these jerking movements.

He didn’t do it very often. But the more it happened, the more he would cry. And I thought, ‘This is not right.’

The pediatrician said that maybe he was reacting to really bad heartburn or acid reflux. I had made an appointment with a dermatologist because he also had white, ashy spots on his skin. The dermatologist looked at him, and she looked at me and asked if he had had any weird movements lately. I said that he had. She wanted to get him to neurology, and the neurologist admitted him right away.

They said that Noah could possibly have tuberous sclerosis complex— a genetic disorder that causes benign tumors to grow in the brain and other organs. They wanted

28

caringvoice.org • Winter 2013 Genetic Medicine Issue

to do an EEG of his brain, and an ultrasound of his kidneys.

My husband is a petty officer in the Navy, and at that time he was away. As a military wife, I have to go with the flow. I have two older sons; Moises, who is seven and Aaron, who is 12, and it was very overwhelming.

The test results showed that Noah had tuberous sclerosis, and epilepsy with infantile spasms. He was four months old when the spasms started and seven months old when they diagnosed them.

They put him on medication, and within a day his spasms stopped. He still cries a lot. Naptime is very precious. I try to comfort him, and often that doesn’t work.

Sometimes he just has to work it out and cry until he falls asleep.

He has SEGA tumors in a very dangerous position in his brain near his nerve endings. SEGA tumors are not cancerous or malignant, but can still cause problems.

We’re keeping an eye on those. He also has tumors in his kidneys. We’re working on that with the renal doctors. He is beginning to show early signs of autism.

The spasms delayed his development. He didn’t roll over until he was about eight months old. He didn’t start crawling until he was ten months old. He recently started pulling himself up in the crib and standing up at 12 months.

He’s 14-months old now and still not walking. A week ago he said ‘Mama’ and ‘Dada’ at the same time. Those were his first words. He has trouble feeding and swallowing.

He can’t have that much table food. I have to make it small enough for him to swallow, but he doesn’t want baby food.

I’ve been very fortunate to be able to stay at home and work with him and help him.

We have good days and bad days.

On bad days, he has this horrible, heartbreaking cry. He throws himself around.

Sometimes he hits at his head and pulls his hair. It’s hard to figure out where the pain is coming from. We give him different medications for it. He’s been exposed to so much already. He doesn’t sleep when he has bad days, maybe for 15 minutes.

He’s my baby. To hear him scream and cry is very difficult. I cry when he cries.

But I never let go of my faith that we’re going to get through this.

We have great days. When I clean the house, I put on music. He laughs, plays, and jumps, and dances in the jumper. He can’t stand by himself yet. He’s still wobbly, but he’s getting there.

Noah loves to be outside, on the beach and the pier, to go for walks in his stroller, to look up at the sky, and go on the swings in the park. He loves Disneyland — the fireworks, the rides, and the characters.

By the end of the night, he’s exhausted.

He also loves to wrestle with his stuffed animals in his playpen. I can hear him rolling around, growling at them.

Aaron and Moises are the greatest brothers in the world. To them, there’s nothing wrong with Noah. He loves to play on them and jump on them when they’re on the floor.

He’s been seizure-free for seven months.

Facing page, left to right: Aaron, Noah, and Moises Altamirano. Th is page, clockwise from top left: Adrienne and Noah. Noah and his father, Gilberto. Noah.

He started holding his bottle and sippy cup by himself. He’s not a small kid, so it was hard for me to hold him, and the bottle, and the cup. It was a huge step for him, holding them. It was very exciting to see.

I’m a member of the Tuberous Sclerosis Alliance. We have events in Southern California, where we get the parents and children together. I have made so many friends with this alliance. We can call on each other. We call each other ‘the TSC Family.’ CONTINUED ON PAGE 30 29

Noah will always have tuberous sclerosis. He will always be seizure-prone. We will always have to check that the tumors are not growing, causing pressure to build up in his brain.

A lot of children with tuberous sclerosis are on different points on the autism spectrum. It’s possible that the behavioral issues and autism won’t happen, but seizures and tumors will always be a part of our lives.

Fortunately, there are military programs for family members with disabilities.

Someone will be coming once a week to help him meet certain milestones. He will have a physical therapist, an occupational therapist, and a behavioral therapist, and he’ll attend a special school.

My mother has been a big help and a big support for me. When I need her, she’s there. Aaron, my oldest son, can hold Noah and get him into the high chair. He has taken on the role of the big brother so amazingly. I don’t even have to ask him to do something. He just automatically does it.

Don’t get me wrong—I cry every single day — but I do what I have to, because this is my son. At first, I thought, ‘It’s not fair,’ but then I accepted it. We’re just going to move forward and keep on going. I take care of him, cherish him, and love every single moment. We don’t know what the future holds, but we’ll get through it with a lot of love and a lot of care.

RESOURCES CURE Citizens United for Research in Epilepsy 430 W. Erie, Suite 210 Chicago, IL 60654 Toll-free: 800-765-7118 www.cure epilepsy.org Info@CUREepilepsy.org The Child Neurology Foundation 201 Chicago Avenue, #200 Minneapolis, MN 55415 Toll-free: 877-263-5430 www.infantilespasmsinfo.org The Tuberous Sclerosis Alliance 801 Roeder Road, Suite 750 Silver Spring, MD 20910 Toll-free: 800-225-6872 www.tsalliance.org info@tsalliance.org

30

caringvoice.org • Winter 2013 Genetic Medicine Issue

Th is photo, clockwise from top: Adrienne Altamirano and sons Moises, Noah, and Aaron. Below: Noah

Every family can use some help.

Introducing COMPASS Support Services for patients in need of ACTIMMUNE® (interferon gamma-1b) therapy.

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

• Patient Assistance Program • Syringe Disposal Program

Call 877.305.7704 Talk to our Reimbursement Case Advocates for answers to your important questions.

We’re here Monday through Friday from 8:00 AM to 6:00 PM Eastern time.

ACTIMMUNE® is indicated for: Chronic Granulomatous Disease: ACTIMMUNE® is the only therapy currently approved by the U.S. Food and Drug Administration to reduce the frequency and severity of serious infections associated with Chronic Granulomatous Disease (CGD). CGD is a genetic disorder that affects the functioning of some cells of the immune system.

Severe, Malignant Osteopetrosis: ACTIMMUNE® is also the only medication approved by the U.S. Food and Drug Administration to slow the worsening of Severe, Malignant Osteopetrosis. Severe, Malignant Osteopetrosis is also a genetic disorder that affects normal bone formation.

Important Safety Information for ACTIMMUNE® ACTIMMUNE® is contraindicated in patients who develop or have known hypersensitivity to interferon-gamma, E. coli-derived products, or any component of the product.

The most common adverse experiences occurring with ACTIMMUNE® therapy are “flu-like”, or constitutional symptoms such as fever, headache, chills, myalgia, or fatigue, which may decrease in severity as treatment continues. Some of the ‘‘flu-like” symptoms may be minimized by bedtime administration of ACTIMMUNE®. Acetaminophen may be used to prevent or partially alleviate the fever and headache.

Reversible neutropenia and thrombocytopenia have been observed during ACTIMMUNE® therapy and caution is advised in patients with myelosuppression. Caution should be exercised when administering ACTIMMUNE® in combination with other potentially myelosuppressive agents. Reversible elevations of AST and/or ALT have been observed during ACTIMMUNE® therapy. Patients begun on ACTIMMUNE® therapy before one year of age should receive monthly assessments of liver function. If severe hepatic enzyme elevations develop, ACTIMMUNE® dosage should be modified.

See full prescribing information for further details of warnings and precautions at Actimmune.com.

Sponsored by Vidara Therapeutics Inc. © 2012 Vidara Therapeutics Inc.

Caring Voice Coalition 8249 Meadowbridge Rd Mechanicsville, VA 23116

Non-Profit U.S. Postage PAID Richmond, VA Permit #2367

We’re Here to Help The Diseases We Support

Who We Are

• Congenital Factor XIII Deficiency

Caring Voice Coalition, Inc. (CVC) is a national 501(c)(3) non-profit, charitable organization that improves the lives of patients with chronic illnesses. We do this by offering financial, emotional, and educational support.

• Infantile Spasms

How We Help

• Alpha-1 Antitrypsin Deficiency

• Chronic Granulomatous Disorder • Complex Partial Seizures • Huntington’s Disease • Narcolepsy

• Pulmonary Hypertension

CVC’s programs are a direct response to patient needs. In addition to medical and financial challenges, chronically ill patients face significant obstacles to starting and remaining on therapy. Our programs remove those obstacles.

Our Programs • Financial Assistance • Alternate Coverage • Therapy Appeals

• Social Security Disability • Patient Education

Contact Us 1-888-267-1440 CVCInfo@caringvoice.org

Visit Us Online www.caringvoice.org

lfvin