Understanding Genetics - Community Magazine, Fall 2016

COMMUNITY Volume 5 • Issue 3 • Fall 2016 The Quarterly Publication of Caring Voice Coalition, Inc.

Understanding

genetics Common patterns

of genetic inheritance

Reflections

from Jessica Jackson, genetic counselor

Resource guide

to help navigate NIH’s genetics library Animals and your health • Tips for combatting anxiety • A week of grab-and-go lunches

What legacy will you leave?

By taking the simple step of making a provision in your will or living trust today, you can create a legacy of giving that will have a tremendous impact on future generations who will need financial assistance and support for their chronic illnesses.

For information on how you can impact the future of Caring Voice Coalition and the patients it serves through a legacy commitment, please contact: Rebecca App, Director of Finance 888-267-1440 ext. 106 financedept@caringvoice.org Your donations are fully deductible for estate tax purposes.

| Contents |

Featured this issue:

Understanding genetics

From the community

16 Four ways genetics matter to you Discover how genetics play a role in diagnosis, research, family planning and family history.

18 Inheritance patterns

Learn the basics of inheritance and a few common patterns.

Publishers Pamela Harris pharris@caringvoice.org Samantha Green sgreen@caringvoice.org

Publishing Editor Kelli Yoder 888.267.1440, ext. 149 kyoder@caringvoice.org

Director of Communications Jennifer Previtera 888.267.1440, ext. 141 jprevitera@caringvoice.org

Graphic Design Charlie O’Donnell 888.267.1440, ext. 130 codonnell@caringvoice.org

4 Letters 8 Close up

Patients and caregivers 10 In your words 12 Patient association profile: PHA

20 Genetic counseling

Jessica Jackson, a Mayo Clinic genetic counselor, discusses her work and how genetics impact her personally.

22 Q&A Genetic Alliance

President and CEO Sharon Terry answers a few questions about the innovative work of this patient-centered genetic research organization.

14 At a glance

Health 26 Legal corner 29 Quick lunches 32 Health watch: Anxiety 34 Health care

24 Genetics resource guide

Need help knowing where to look for genetics information? Check out this guide.

36 Companion animals

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.

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

Copyright Caring Voice Community is produced

by Caring Voice Coalition, Inc. Copyright Š2016

20

29

18

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| From the community |

Advancements in genetics

W

hen Community last examined the latest in genetics research in 2014, content focused primarily on diagnosis and the potential of genetic testing and sequencing.

In just two short years, the promise genetic research holds has expanded immensely.

For one, the federal government’s Precision Medicine Initiative (PMI) launched in early 2015 with the goal of learning how health care can be individualized. This year, the National Institutes of Health announced the PMI Cohort Program, which will gather a wide variety of health data of 1 million American volunteers. For researchers like Sharon Terry this is big news.

She directs the health advocacy organization Genetic Alliance, where one major goal for more than 20 years has been to rally patient participants in genetic progress. She was present for the initiative’s announcement and invited to serve on the PMI Cohort Advisory Panel.

She’s an example of what patient participation can accomplish in genetic research.

Motivated by their children’s diagnosis of a genetic condition, pseudoxanthoma elasticum (PXE), she and her husband cofounded PXE International and codiscovered the gene connected with PXE. She became a leading researcher for PXE despite no training in genetics.

Her continuing accomplishments in rallying disease communities to work toward scientific solutions demonstrate just what kind of impact each patient has the potential to make.

This is an exciting field not just for people with genetic conditions, but also all people with health care needs that could benefit from a more personal approach.

Learn more about Terry’s work on page 22, and begin your own journey understanding genetics in the surrounding pages.

With researchers, patients and other advocates working together, and a larger genetic-information database than ever before, imagine what we have the potential to discover in the next two years—or 10.

Kelli L. Yoder Community Publishing Editor 4

caringvoice.org • Fall 2016 • Understanding genetics

| From the community |

Simplifying the complex

G

enetics can seem like an overwhelmingly complex topic— one better left to the experts.

When the topic does come up, it can feel more worrying than exciting.

Will genetic test results lead to discrimination? Might some genetic tool fall into the wrong hands?

These concerns are valid. But the progress genetic research has made over the past few years—in understanding disease and treatment especially—is also quickly opening up potential for improving health care for the individual.

This issue includes lots of accessible information to help you understand how genetics research can impact you—such as in family planning or diagnosis.

The good news is that you don’t have to understand exactly what a gene is or looks like in order to benefit from the new ideas. Simply knowing your family history can provide enough information to help you make healthier choices (see page 16).

With a diagnosis or your family history in hand, your health care provider can better advise you on which treatments will work best or tell you your likelihood of passing along a disease to children.

If you find genetic implications in your history are beyond your understanding— diseases like Huntington’s, familial pulmonary arterial hypertension, and bile acid deficiencies all have genetic causes—you can visit a genetic counselor, like Jessica Jackson, who talks about her work on page 20.

She talks about how not so long ago genetic testing was thought to be purely investigational. But, she said: “Over time we’ve proven that genetic testing can impact health care. We find medically actionable results.”

I hope this kind of information—and the variety of other details provided within these pages—will help you explore the ways genetic research can leave you feeling more empowered as a patient, instead of overwhelmed.

Samantha Green Vice President of Caring Voice Coalition

5

| From the community |

Community conversation Loved the summer issue of Community on sleep. I always have a hard time falling asleep. All the tips have helped.

Lisa Mullin California What a great issue of Community! It has everything from inspirational stories of love and hope to useful tips for better living. Your team really packed in a ton of practical information: from life coping tools of meditation, sleep tips, and recipes to primers on managing chronic illness on topics like insurance, emergency situations and travel.

This one is definitely going to be read and reread often in my household. I can’t wait to share it with others who are affected by pulmonary hypertension. Bravo on making each issue of Community dynamic, interesting and useful for a wide-ranging audience.

I recently came across your article encouraging sufferers of rare diseases to share their stories. I want you to know that you are providing a light in the midst of darkness for many people who are suffering in silence. Suffering from a disorder that is rare feels similar to being an alien dropped off in a foreign world and left alone to cope and fend for itself. There isn’t any comfort—just confusion, loneliness and isolation. Just the opportunity to share one’s story after a lifetime of silence can alleviate so much hurt intentionally and unintentionally inflicted. So thank you for offering this opportunity.

Debbie Drell Washington, D.C.

Goodness Nwankpa New York

New on the blog

Popular on social

CVC’s Appeals and Disability team has published three installments of their monthly blog feature meant to help you better understand disability:

Disability and the difference between SSDI and SSI Insurance and Social Security disability Do I need a disability attorney?

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 Invisible is not invincible

caringvoice.org • Fall 2016 • Understanding genetics

 How to be prepared for emergencies

 Pinterest board: Depression & Anxiety

to doing all you can.

Want to find ways to get back some of the things you may have missed since your diagnosis? Living PAH can connect you to a growing community of support designed to help you get the most from your care.

Visit LivingPAH.com today. You’ll find relevant information about your condition; healthy, low-sodium recipes in our Living PAH Kitchen; and tips from other patients and caregivers who have traveled a similar path. And if you choose to enroll, you’ll receive additional tools and resources, a set of low-sodium recipes, and a monthly newsletter with helpful lifestyle tips.

Yes. It’s time to pursue your goals.

ENROLL TODAY AT LIVINGPAH.COM © 2015 United Therapeutics Corporation.

All rights reserved. US/LPAH/APR15/135

| From the community |

Sonia Hemphill

Communications Specialist II

I

love helping people. So I feel very connected to the purpose of Caring Voice Coalition (CVC). It is an awesome feeling to, every day, be able to say, “We’re here to help.”

Before coming to CVC, I worked in the medical field. A former manager referred me to CVC in 2006, and I joined the team of case managers, made up of only four people at that time. I also worked in the accounting department, and now I’m part of the communications department.

As the communications specialist II, I help make sure patients receive letters in a timely manner, so they can stay up to date with CVC. I provide support group information for those looking to connect. I also answer the phone at the front desk and help direct callers to the correct department.

The first time a person calls CVC you can often hear fear or anxiety in their voice. My goal is to use those first few moments they interact with us to smile and let them know we can help them. After that, I can tell the difference in the caller’s tone of voice. I can hear the relief in their voice, which I hope helps their transfer to a case manager go more smoothly.

I really believe a good tone of voice can help somebody’s lousy day. You can tell a big difference if you have a good attitude when you’re on the phone. Patients are very sweet to me on the phone.

I love my job. I love that we help people live longer lives, giving them more time to be with their families. To me that’s awesome.

I always do my best to put myself in the place of the patients I’m interacting with. I think of my own family. My sister-in-law had lupus and passed away in 2001. When my brother heard about CVC’s work, he told me she had actually passed away from pulmonary hypertension, associated with lupus. He started crying. He said if he had known that there

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caringvoice.org • Fall 2016 • Understanding genetics

was a Caring Voice back then, he would have been able to spend more time with his wife in her final years. Instead, he worked three jobs so he could pay for her medications.

I lost an uncle to idiopathic pulmonary fibrosis in 2008 when there wasn’t enough awareness about the disease for those around him to recognize what his condition meant. So I appreciate that a lot of the work we do in communications is simply spreading awareness about diseases—connecting people to support groups and organizing information to be shared at conferences.

“My goal is to use those first few moments they interact with us to smile and let them know we can help them.”

I think CVC was like a magnet in my life—I was drawn to it. It’s been a very positive part of my life. Patients inspire me to be as positive as possible so that I might help them feel hopeful. Life is too short not to be happy, to “sparkle”— that’s my word. It can be rough out there. I hope when I sparkle, it helps the people around me sparkle.

I love CVC’s core values: respect and fairness, passion, service, commitment, honesty and integrity, and servant leadership. I try to live them because they are so good, and important in each part of life, not just at CVC. I think internalizing and exhibiting those can help my children especially see the value in reflecting these things.

I see the leadership here as an amazing example of what it means to care, and each day I feel honored and grateful to work for CVC.

| From the community |

Gregory Smiley

Board of Directors

I

have been fortunate to work for the joint United Nations program on HIV/AIDS (UNAIDS) for the past nine years. UNAIDS unites the efforts of 11 UN organizations and works closely with global and national partners towards ending the AIDS epidemic by 2030 as part of the UN’s Sustainable Development Goals. I have been stationed in Washington, D.C., Johannesburg, South Africa, and now Geneva, Switzerland. I am incredibly lucky working for an organization I believe in, for a cause I believe in, and seeing firsthand the impact global efforts on HIV have had on communities around the world.

Coincidentally, my hometown is Chester, Va., about a 40-minute drive from Caring Voice Coalition (CVC)’s headquarters. My family is still there and I love being home when I can make it.

I admire CVC’s person-centered approach and wish the world saw more of it. CVC champions for those who are struggling or left behind. Each client has a complex series of needs, hopes, dreams and fears. CVC is there to help these individuals on a personal level, treating them not as the disease they live with or a set of statistics, but as people.

Through CVC, I had the sublime privilege of meeting Meghan Sullivan, a young woman who was living with Huntington’s disease, and passed away in 2014 at age 26.

She had this irrepressible energy and the fullest smile, all while living with the cruelest disease. And in three hours sharing a dinner conversation with her, I saw more courage than a thousand war heroes. It was humbling to see the face of God in her. CVC has worked with thousands of people like Meghan and remembering that fact drives me to continue my support for CVC. People living with challenging medical conditions must contend with the same burdens we as human beings all face, compounded by the effects of the disease on one’s health,

mobility, energy, relationships, time and money. These challenges are incredibly complex and can feel crushing some or even all of the time. These are challenges you just cannot handle alone. CVC understands that we are all part of a larger community of people and we must work as a team.

Working with CVC, I’ve learned how access to health care continues to be a problem in the U.S., just as it is in many parts of the world. We continue to struggle with expanding and ensuring access to quality health services for all Americans, and we still very often fall short. I see the importance of persistence in trying to serve and help individuals gain access. There will always be those who are left out and left behind. Without CVC and similar services, we have to ask, “Where will people go?”

Stationed in South Africa, I endured a horrible highspeed cycling accident on a mountain road and sustained multiple severe traumas to my face. I spent three weeks in intensive care in Johannesburg and, to date, have had 10 surgeries to repair and restore different parts of my face, with a few procedures yet to come. I am fortunate to have survived and now to thrive three years later. While I don’t dare compare my experience to maintaining a lifelong struggle with a life-threatening disease, I do have a greater appreciation for those contending with health care systems, with the overwhelming upstream navigation of providers and the need to learn to advocate for yourself. Those experiences permeate every detail of your life—not just whether or not I will feel healthy and vital again, but: Am I making the right choices? How will I manage the impact on my work, friends, family, spirituality, confidence, wallet? Where will this end?

Each patient CVC serves represents a story of perseverance. We have an obligation to try and support one another.

CVC is a help to so many—we must do what we can to maintain that help.

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| Patients & caregivers |

I

worked for 33 years as a police officer, beginning in 1975. For the last 18 of those years I was a police dispatcher. That was an exciting job.

Police dispatchers screen calls that come into the station for priority, then they relay information between officers and emergency responders in the field.

People heard me but never saw me. I had to be aware, alert and ready to help at any moment. It was a great job because I love to help people.

In 1991, I was diagnosed with sarcoidosis, an autoimmune disease that often affects the lungs and skin.

It was a mild case, but it kind of kept progressing over the years. Then I started getting a little short of breath and it just kept getting worse, until one day a doctor said, “Betty, if you don’t retire you’ll be dead in two years.”

So I put the paperwork in and retired on April 8, 2008.

About four years ago I was in the hospital for something related to the sarcoidosis. And they took a test and found out that my blood pressure was high in my lungs and there were some blood clots in my blood vessels there. So that’s when I learned I had pulmonary hypertension (PH) too, as a complication of the sarcoidosis.

When I was first diagnosed I was in shock. I didn’t know what it meant.

I’ve learned I can still pretty much live a normal life. I use oxygen now and I’m on blood thinners and other medications. I also really changed my diet. And I go to an exercise class for people with respiratory problems on Tuesdays and Thursdays. I really notice the difference. Some days I have more energy than my body can deal with.

10

A slight change in pace And sometimes I’m up all night and exhausted all day—but overall I’m managing well.

Having PH has changed my life some. I used to be a fast walker. I used to be like the roadrunner. At work, I had a partner who didn’t walk very fast and I often thought, “Can you walk any slower?” Now I’m the slow walker.

I’ve learned I need to pace myself. I’m aware of my limitations. I can handle things better when I’m at a slower pace.

I still do all the same things for myself, just slower.

I am sensitive to any chemicals. I avoid smoking especially—smoking areas and certain friends’ houses.

Through the exercise class I’ve learned to breathe correctly to sustain

caringvoice.org • Fall 2016 • Understanding genetics

Betty Washington describes the impact of sarcoidosis and pulmonary hypertension on her life—and how she stays strong by surrounding herself with positivity.

oxygen. It works pretty well for me. I love the women who teach it. It’s very invigorating. Between the oxygen, medication, diet and exercise, I’ve gotten a lot better. And I believe I will keep getting better.

Wearing oxygen made me a little self-conscious at first. I learned tanks are quieter to carry in public than machines, so I do that. But I think it’s important to remember, even in the face of PH, you are still living in this world, so you have to take ownership of your life. Sometimes I have to give myself a little talk to remind myself I’m doing well—I cannot complain.

People have actually stopped me to thank me for wearing the oxygen in public—a lot of people are too embar-

| Patients & caregivers | rassed to do so. Seeing me with oxygen affirms them. I really believe you still can function with PH, no matter what you might need to help you.

who should or shouldn’t get sick? Once you’re dealt with it, deal with it. You can’t wish it away—you can just pray.

I’ve learned a lot about PH just by I have two daughters and five grand- sitting and listening to my body. I’ve children and one great-grandchild, all learned a lot from medical programs in Texas. I’d really love to take a trip and self-education. I try things out down to see them. It’s probably not and if they don’t work I learn what I something I can do on my own, so have to do differently. If they have I’m hoping to find someone willing to programs out there that can help you go along. in any way, please do them. The main I live by myself, but I’m very glad thing is don’t give up hope—or love. to also have lots of family right around me. They are all ready to help out when I need it. They check in with me and some will even come stay with me if I’m not well. There’s a crew—my cousins, my siblings—that always show right up when I’m admitted to the hospital. I feel very supported.

My advice to people newly diagnosed with PH is to stay calm. It’s not the end of the world. It’s your new normal. I take a break if I get short of breath and then keep on going. I was dealt this. Unfortunately, you can’t just reject it. So get a strong hold of your self worth. You will be all right.

Also, spend time around other people. I was part of a sarcoidosis support group for many years until it disbanded. Now I’m looking for a PH support group. I’ve gotten information about one around me I’m going to try out. It’s a great way to meet people having a similar experience. You’ll learn it’s not a death sentence. It’s not the end of the world—especially if you have a positive attitude. You will have those “why me?” times, I sure did. But then I thought, “Why not me?”

I refuse to give up. There’s a lesson to be learned about any situation. Life is not a bed of roses. I was very healthy until my first diagnosis. Who’s to say

into his truck. He’s very protective of me. My family is the same way.

My friends send anyone with similar health issues my direction. They know I enjoy talking and helping. I just tell them, call me anytime. I just get good feelings when I help others.

I’ll never forget, in 1996 I had a sarcoidosis attack. I had been coughing up blood for awhile, but it happened once while I was at work. I kept coughing and coughing and just felt off. So I decided to visit the hospital, thinking I’d be back to work before the day was out.

“You will have those ‘why me?’ times—I sure did.

But then I thought, ‘Why not me?’”

They had to give me a blood transfusion and they had me on a ventilator. I was dangerously low on blood.

They induced a coma and called my daughters. When I came out of the coma and started to recover, the doctor asked me if I knew how sick I had been. “You were at death’s door,” he said.

That’s why I say you don’t take anything for granted.

Do what you love and show people that you love them.

One word can change someone’s whole People have said negative things attitude. If I meet someone who seems to me. When they hear about my to be in a tough place, I’ll send them condition they say things like, I could a card. I just like people to be happy. never live that way. I respond by saying, And I want them to know they’re not “I’m going to live a long, long, healthy on their own. and prosperous life.”

Having PH and sarcoidosis has Keep positive people around you. taught me to evaluate my life and be You don’t need any negative people careful with my body, and to appreciate around you. From when I was first what I have. If someone looks like they diagnosed with sarcoidosis, a lot of my are fine, that doesn’t mean they are. relationships have grown closer.

I believe everyone has some type of I have a friend who takes me challenge and I’ve learned not to judge everywhere I need to go. He even people, because you can never know brought a stepping stool to help me get what anyone else is going through.

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| Patients & caregivers |

Patient association profile Pulmonary Hypertension Association Q & A with newly appointed president and CEO Brad A. Wong What is the Pulmonary Hypertension Association, and what services does it provide?

The Pulmonary Hypertension Association (PHA) is the nation’s oldest and world’s largest organization combatting pulmonary hypertension (PH), or high blood pressure of the lungs. PHA supports and connects more than 24,000 patients, caregivers, medical professionals and scientists.

2016 marks our 25th anniversary. PHA provides support groups, online and in-person medical education, research grants, patient advocacy programs and early diagnosis and disease awareness campaigns. We host two conferences, each held every other year: PHA’s International PH Conference and Scientific Sessions and the PH Professional Network Symposium. In 2014, we launched an accreditation program for PH care centers (PHCCs) and recently created the PHA Registry (PHAR). For 13 consecutive years, PHA has received the highest rating—four stars—for fiscal accountability and transparency from Charity Navigator, placing it in the top 0.5 percent of all rated charities.

and in just six months, this initiative reached approximately 65 million people through more than $34 million in donated advertising. PHA empowers the PH community by providing vital educational resources, funding research (with more than $17 million in commitments), and connecting PH patients/caregivers/families with medical professionals, researchers and industry worldwide. We’re making real progress in advancing PH care and as a community, we’re putting our heart into finding a cure.

How did you come to be involved with PHA?

I was contacted by a search firm assisting PHA’s board in finding someone to serve as PHA’s second CEO following Rino Aldrighetti’s extremely successful 17-year tenure. The story of PHA’s founding and growth impressed me—how it started as a patient organization and organically became the connector for PH patients, caregivers and families with medical professionals and researchers, all empowered by the hope of advancing care and finding a cure. PHA’s mission resonated with me on a personal and professional Why is the work of PHA important? level. As executive director at the Foundation of the American Academy of Ophthalmology, I was fortunate to PH is a progressive, life-threatening disease that is often misdiagnosed, for example as asthma or COPD (chronic have the opportunity to create innovative programs, raise obstructive pulmonary disease). The disease puts pressure the foundation’s visibility, establish important partnerships, on the heart and can cause death from right-heart failure. and increase and diversify funding. I admire PHA’s unique Misdiagnosis results in delays in treatment that could extend position as the heart and voice of the PH community and and improve quality of life. One important way PHA helps am inspired by how much progress the association has made address this critical issue is to make more people aware of the in 25 years. I’m honored to have the opportunity to join the disease so that patients are diagnosed sooner. PHA recently cause and lead efforts that further the mission to extend and launched our Heart2CurePH public awareness campaign improve the lives of those affected by PH while supporting 12

caringvoice.org • Fall 2016 • Understanding genetics

| Patients & caregivers | research to find ways to prevent and cure PH. What are your hopes for your new role?

I realize that I’m joining PHA at a pivotal time as the association embarks on building the next phase of our strategic plan. This will include broadening our services through our steadily growing PHCC accreditation and PHAR program, leveraging our early diagnosis and public awareness work, building upon our medical education programs and expanding and diversifying our funding base as the community we serve widens.

Is there anything you’d like people with PH and their loved ones to know about you?

While I am a seasoned association professional, I also have a personal connection to patients and their caregivers. I have cared for a parent with a chronic disease. I feel very privileged to have an opportunity to apply my passion to help advance efforts to extend and improve patients’ quality of life and, ultimately, prevent and cure this debilitating disease. I’m collaborative and enjoy working with patients, diverse groups of people, talented and committed staff and the entire spectrum of health care providers—physicians, nurses and allied medical professionals, researchers and pharmacists. My goal is to motivate, inspire (and to be inspired) and empower people who have put their collective heart into empowering the PH community and finding a cure. I am excited to help PHA build upon its history of service to the entire PH community.

Do you anticipate any specific changes to happen at PHA under your leadership?

We are working on establishing a strategic plan to set clear direction for all stakeholders and staff. My hope is that my leadership creates an environment of continued success, where PHA remains strong, nimble and able to accommodate growth. As we increase awareness of PH, we will serve more people. We’ll need a vibrant and dedicated volunteer community, a sound organizational structure, and the financial resources to support and sustain that growth.

This means I’ll need to work with staff, the board and the entire PHA community to understand their needs and to capture their hopes so they can be incorporated into our strategic plan and all that we do.

Is there anything exciting on the horizon at PHA? We are in the midst of expanding our PHCC accreditation program and accompanying registry, PHAR. These initiatives will go a long way in advancing PH care.

Accreditation gives patients confidence that they are receiving the best care—and the registry, which will gather data from the accredited centers, will make available important data to scientists who are studying ways to better treat, prevent and ultimately cure PH. Who can be involved with PHA, and how can they get involved?

Anyone with a desire to make a meaningful impact on improving the lives of individuals who live with a lifethreatening disease can be involved—the more, the better.

I encourage people to learn about PH and PHA, including how to get involved, at PHAssociation.org. They can help spread the word, become PHA members and donors, and be involved with fundraising through our chapters or community special events. We are also looking for corporate partners that can help us continue to grow by investing in our many programs such as the successful Heart2CurePH campaign. We had the pleasure this year of working with our celebrity ambassador—TV host and actor Terrence J. While he does not have PH, Terrence J was touched after meeting with a PH patient and our past board chair, Steve White, who lost his daughter to the disease. With nearly 2 million Twitter followers, he has been wonderful in raising awareness about PH among people who previously knew little or nothing about the disease. We invite more celebrities to join our cause. People can also help us by connecting with us on Facebook, Twitter and Instagram to engage with us and share patient stories.

Is there anything else you’d like to share?

The success of PHA is due to the strength of its community and the many ways that individual members of our community contribute their time, expertise and financial or other resources. To ensure that PHA’s next chapter is as successful in serving the PH community as its first 25 years, I invite everyone to learn more about us, help spread the news, and get involved to the best of your ability.

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| Patients & caregivers |

Bile acid deficiencies Any disease caused by a genetic error in one of 17 enzymes that produce bile acids, resulting in defective bile acid creation. The body needs bile acids to remove toxins and break down food into nutrients.

Nine known genetic errors cause diseases with varying symptoms, treatments and prognoses. Generally, the diseases are characterized by impaired liver function and poor absorption of fats and nutrients. Bile acid deficiency can cause:

Vision problems Sources: Council for Bile Acid Deficiency Diseases, National Organization for Rare Disorders

Neurologic impairment Poor coordination Jaundice Bruising Weakened bones Enlarged liver

Diagnosis

Bile

d

Bloo

Using specialized molecular mass spectrometry techniques, doctors analyze:

e

Urin

Treatment Bile acid replacement therapy 14

Supplemental vitamins & nutrients

caringvoice.org • Fall 2016 • Understanding genetics

Liver transplant

Understanding

genetics 20 Personal touch

Jessica Jackson talks about genetic counseling at the Mayo Clinic.

16 Four ways genes matter to you

22 Genetic Alliance

18 Inheritance patterns

24 Resource guide

Broaden your genetic knowledge.

Better understand the complexities of inheriting genes.

Q&A with president and CEO Sharon Terry.

Learn to navigate the plentiful genetic resources from NIH. 15

G E N E T I C S

Four ways genes matter to you

G

enetics research continues to inform disease treatment and prevention in new and previously unimagined ways— from the completion of the international Human Genome Project in 2003, to the present day federal Precision Medicine Initiative.

In the near future, predicts the National Institutes of Health (NIH), “We will live in a time of more effective ‘personalized medicine.’ Information from genetic testing will help to detect risk for disease, guide strategies for maintaining health, offer more accurate diagnosis, and guide treatment choices for a wide variety of conditions.”

But how do we make use of all of the information now available to us on an individual basis? Start by understanding four basic ways genes could matter to you.

1. Family history

for example, you can help prevent or catch the disease early by telling your doctor, who can use this information to guide his or her directives, perhaps suggesting exercise and diet changes or medications that lower cholesterol or blood pressure.

Gathering enough information to begin to recognize genetic links can take some time. Genetic Alliance provides some guides anyone can request, and even have sent to family members to help organize the health history gathering process.

Genetic Alliance also suggests sending a survey to your family— something you can do with free online tools. Or, planned conversations at family events can help you get lots of history recorded at one time.

Certain things you find in your family history may also lead you to seek genetic testing. (Learn more about genetic testing on page 20.)

general overview of health decisions to consider while parenting. For instance, if you carry a genetic link to diabetes, you may want to monitor a child’s glucose levels. If your child might carry a higher risk of skin cancer, you can limit sun exposure.

Genetic testing could also find something more certain, such as a combination of carrier genes in two would-be parents that could lead to a disease. With this knowledge parents and doctors can watch or test for the disease at birth or in utero, potentially improving the baby’s prognosis.

Though somewhat controversial, doctors can test for most genetic conditions, like Huntington’s disease (HD), prior to embryo implantation through in vitro fertilization. According to the Huntington’s Disease Society of America, parents can choose to screen embryos without learning their own predisposition for HD.

While growing more common, genetic testing isn’t necessarily a good or 2. Family planning bad choice for anyone, and ultimately, Family planning is another reason it is up to each individual to make an Most diseases are caused by a for taking a closer look at your genetic informed decision. An article pubcombination of environmental and history and considering genetic test- lished in the journal Nature Education genetic factors. Therefore, the simple ing. If you are contemplating having discussing ethics and genetic testing knowledge that you are genetically children that carry your DNA, it can said for most people the choice comes predisposed to a disease can help you be helpful to know what you and your down to whether a disease could be prevent it, because you can focus on partner together might predispose treated or prevented and whether the genetic knowledge might lead to “conchanging things you have control over. your children to.

If heart disease runs in your family This might apply to seeking a structive life changes.” And though Knowing your family health history can help you prevent or prepare for disease.

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caringvoice.org • Fall 2016 • Understanding genetics

| Understanding genetics |

people can purchase some limited can now be sequenced in about three testing “over the counter” from pro- hours for just $1,000. Some more viders, testing done in conjunction specific tests can cost up to $2,000, but with medical care is generally accom- others, such as newborn screening, can panied by genetic counseling to help be under $50. guide patients through the decision These improvements mean sequenand any results. cing is happening more often. And as more people share their genetic information with research databases, 3. Diagnosis scientists are finding more genetic One of the first uses of genetic test- links between diseases, helping pating was to confirm the diagnosis for a ients receive diagnoses that can open few specific genetic conditions, accord- doors to treatment, support and ing to the NIH. Diagnosis is still one understanding. of the primary reasons people undergo genetic testing.

Yet today, there are genetic tests for diagnosing more than 2,000 diseases.

More than 500 laboratories are able to perform diagnostic testing, carrier and predictive gene testing, and prenatal or pre-implantation screening, among other things. Getting a specific genetic diagnosis can greatly improve treatment options and help you understand your disease better. It often opens doors to disease organizations or support groups.

While just a decade ago the human genome cost $14 million to sequence, according to NIH, an entire genome

4. Research and the larger good Another reason some people choose to do genetic testing is out of a desire to contribute to genetic research databases. By undergoing genetic testing and making your results available to researchers, with or without your identity connected, researchers can pool and mine data in search of patterns.

One way this has been successful is in the development of treatment op-

tions based on genetics. For example, researchers have determined that people carrying certain genetic sequences respond better to certain cancer treatments than others. This kind of genetic research is called pharmacogenomics.

Researchers studying patient genetics have also discovered more effective treatments. Dr. Wendy Chung studies the genetics of a wide variety of health conditions, including pulmonary hypertension (PH). Using a genetic analysis process of families with PH called exome sequencing (where only the genes that code for proteins are sequenced), she and her colleagues found in 2013 a genetic link in certain cases of PH. According to the study, published in the New England Journal of Medicine, cell culture studies showed that the mutations’ effects could be reversed with a drug compound known as a phospholipase inhibitor.

Because of this kind of genetic research potential for people with rare diseases in particular, registries exist to allow patients and their families to register their medical data for research.

This year, a national research database planned through the NIH’s Precision Medicine Initiative Cohort Program will begin enrolling participants, seeking at least 1 million volunteers. NIH believes the study of the data researchers expect to collect there will lay important scientific groundwork needed for medicine to meet that goal of becoming more tailored to patients’ individual genetics, as well as their environment and lifestyle.

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G E N E T I C S

Inheritance patterns Certain diseases are caused by a single gene mutation received from one or both parents before birth. Knowing the inheritance patterns of illnesses that appear in your family can help in family planning, earlier diagnosis and disease management. Some conditions have multiple types of inheritance, but what follows are a few common inheritance rules.

Genetic inheritance Each human has 23 pairs of chromosomes found in the nucleus of almost every cell in his or her body.

Chromosomes are long strands of DNA, each made up of four particles arranged in different orders that act as recipes or codes for making proteins in your body. A segment of the strand that codes for a certain protein is called a gene.

Egg cells and sperm cells are a little different, containing only one of the two chromosome copies within each pair. At conception, the 23 chromosomes from an egg pair at random with 23 from a sperm cell and form an embryo with 23 new, unique pairs (sometimes containing “recombined” or rearranged versions of the original chromosomes).

While humans share 99.9 percent of their DNA, according to the National Institutes of Health, one gene mutation somewhere in the 46 chromosomes can pass disease along in a family. Depending on the gene, the disease is inherited differently. Talk to a genetic specialist to understand your family medical history better.

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caringvoice.org • Fall 2016 • Understanding genetics

| Understanding genetics |

Autosomal dominant One copy of the altered gene in the chromosome pair is sufficient to cause the disease.

Diseases with this inheritance pattern: familial pulmonary arterial hypertension, Huntington’s disease and some types of Phelan-McDermid syndrome.

Autosomal recessive Both copies of the gene must have the mutation for symptoms to show.

Diseases: Types of Gaucher disease, thalassemia, factor XIII deficiency and bile acid deficiencies.

X-linked dominant or recessive Gene mutations found on the X chromosome can be dominant or recessive. Fathers cannot pass X-linked diseases to their sons.

Disease: X-linked infantile spasm syndrome has both dominant and recessive varieties.

This information came from the National Institutes of Health’s genome.gov, which includes a searchable database of diseases and their genetic inheritance patterns (see page 27).

Sporadic gene mutations This kind of disease is caused by an altered gene that does not arise through inheritance, but by apparently random mutation. However, it then becomes inheritable to children of the person with the mutation. ÎÎ Most narcolepsy cases are sporadic. Parents, siblings and children of people that have narcolepsy with cataplexy have a 40 times greater risk of developing the condition compared with people in the general population. ÎÎ Lennox-Gastaut syndrome is initially sporadic, but between 3 and 30 percent of those with the syndrome have a family history of some type of epilepsy. ÎÎ While Cushing syndrome as a whole is sporadic, most conditions that have it as a characteristic are inherited in an autosomal dominant pattern.

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G E N E T I C S

A personal connection In the Winter 2012 Community, Jessica Jackson shared her experience as a secondary caretaker for her mother, who was working toward a lung transplant. Jackson, now a genetic counselor, updates Community on life since.

long. I’d had a place to be, and a reason to be somewhere— to be with my mom and to take care of her. We knew her transplant would be in Wisconsin. I was only going to search for jobs in the Midwest.

I

Instead, I was going through so much grieving. I needed some physical space from home to get through some things on my own. I applied to jobs everywhere. I took a genetic counselor job in Jacksonville, Fla., in 2014. I now work at the Mayo Clinic in Jacksonville, where I serve many families affected by hereditary conditions.

n August 2013, my mom had just gotten approved for a lung transplant to help improve her respiratory function, failing because of Alpha-1 Antitrypsin Deficiency (Alpha-1), a genetic condition where a gene mutation inhibits the body’s ability to protect its lungs and liver from attack. We just had to do a few things before she was actively on the transplant list.

A few weeks later she wasn’t feeling well, but that wasn’t unusual. She went to the doctor, but I thought they were going to give her antibiotics and everything would be fine.

While I was at grad school a few hours away in Indianapolis, I got a call from my dad that things weren’t fine anymore. I drove home in a panic, hoping the words I had just heard did not mean what I thought they meant. I lost my mother four or five days later in September 2013. My heart had never hurt so much.

Having a parent with chronic illness, you grow up knowing they’re sick, but somewhere along the line, the severity of it can go away. It becomes such a part of your life, a norm. She went to her annual evaluations and an occasional hospital stay, but mostly it was our family day to day. The fact that she didn’t come home and the fact that two or three weeks before she was celebrating with me on the phone because she was approved for a lung transplant—was devastating. She was so close. She was so close to possibly having her life changed.

I went back to school after two weeks at home. It was an awful, bumpy time. But I couldn’t sit in the house and cry all day. It was the middle of the semester about six months before I graduated with a master’s in genetic counseling.

During that time, people kept asking, “So where are you going to work?” I didn’t know how to answer it anymore. A lot of my life decisions had been based on my mom for so 20

caringvoice.org • Fall 2016 • Understanding genetics

Jessica Jackson, a genetic counselor, stands with her mother, who passed away from complications related to the genetic disease Alpha-1.

I’ve seen a couple patients with Alpha-1. Alpha-1 is a recessive condition, so both parents have to have the gene mutation to pass it on. My brother and I are carriers, but we don’t have it. Most carriers have no symptoms. When I chose this career, I didn’t think about how I would face some of the things I’ve gone through in my personal life on such a professional basis. It can be a challenge hearing patient stories and trying to keep my own emotional reaction from influencing them.

In my current role, I primarily see patients with adultonset genetic conditions. We offer genetic testing for all of those conditions. We also do some of the newer tests like whole exome sequencing. I counsel and educate patients on their family history and its potential health impact. I walk them through different types of inheritance. I go through testing options with them and review the significance of any

| Understanding genetics | results. I cover family planning, so I review reproductive options for reducing the risk of passing a condition on. I work on my own and as part of a clinical team.

history questions before you see a counselor. If someone has a genetic condition in the family, bring medical records and/or their genetic test results. If it is a difficult one like Huntington’s disease, bring a support person with you.

I’m not a psychiatrist, so there are some things I’m not qualified to handle. But, certain diagnoses can be quite upDiagnostics with genetics has improved dramatically. setting for people and I help them sort through some of those We’ve been able to provide answers for patients who have emotions. There is always a tissue box on my desk. We are lived 20 or 30 years with a genetic disorder so rare no one trained to help people talk through could put a name to it. I’m excited a diagnosis and get them in contact about the capabilities genetic diwith the specialists they need. agnostics are reaching. A diagnoI recommend that anyone considsis may or may not change medical ering genetic testing visit a genetic management, but just the ability to specialist, rather than a primary care identify what is going on with a paphysician. Physicians can order getient’s body provides them such renetic tests, but genetic counselors and lief. It’s rewarding to be able to imgeneticists can better prepare you for pact people’s care with a genetic test, your results. You can’t un-know geor simply provide them an answer. netic test results, so it’s important to

“

be educated about it going in.

Over time we’ve proven that genetic testing can impact health care.”

Having a personal experience, with my mother’s genetic disorder Genetic specialists also know and understanding the fear of more about insurance and billing passing something on, I think concerns because we do it every day.

When people come see us, we tell makes me a bit unique among my them the pros and cons of getting colleagues. Sometimes that makes tested and things to consider going it easier for me to connect with in. A law called the Genetic Inforpatients, but sometimes it makes it a mation Nondiscrimination Act offers some job and health little bit emotionally challenging for me, too. You do have insurance protections (see page 26). But it doesn’t cover to be careful about personal and professional boundaries, everything. It excludes life, long-term care and disability even among colleagues, when you work in the field you’re insurance decisions, and does not apply to active military connected to. I think it’d be different if I sold cars, but members. We review that with all patients that are asympI don’t. I work in genetics. So my personal experience is tomatic, but have a family history of something significant. directly involved with what I do on a day-to-day basis.

At one point, genetic testing was thought to be purely I do love my job. If patients ask what led me into this field, investigational, and that’s not the case anymore. Over time we’ve proven that genetic testing can impact health care. I’ll share that I have a family history of a genetic disorder We find medically actionable results. In response to that, and serving others with these concerns. People seem to enjoy insurance has had to start covering more of these tests. As and find comfort in a provider with a personal connection. the field has changed and grown, test options have gotten I am blessed to have the opportunity to serve such amazing better. If you’re worried about cost, it’s still a good use of patients and hope to do so for many years to come. your time to come to a genetic counseling appointment and see what insurance might cover. There is no obligation for genetic testing at a consultation appointment.

Jessica Jackson works as a certified genetic counselor at It’s cheaper to do genetic testing if we know what mutation we’re looking for, instead of sequencing the entire gene, so it helps to come prepared. Ask your family medical

Mayo Clinic in Jacksonville, Fla. She holds a Master of Science in medical genetics from Indiana University in Indianapolis.

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G E N E T I C S

Genetic Alliance Q&A with President and CEO Sharon F. Terry to facilitate and improve collaboration between When did Genetic Alliance get started? What are researchers and participants. some things Genetic Alliance has accomplished since then? öö Joining the federal Precision Medicine Initiative.

Founded in 1986, Genetic Alliance began as a consortium of 200 member groups and has grown to a network of What does Genetic Alliance do? What are your more than 10,000 organizations, including 1,200 disease- organization’s goals? advocacy organizations.

These are our goals: Some of our accomplishments throughout the last 30 öö We ensure individuals and families are able to years include: be active participants in health, from services in öö Establishing a genetic disease hotline, which later spun off into GARD (Genetic and Rare Diseases Information Center), an educational resource for rare or genetic diseases now operated by the National Institutes of Health.

öö Establishing a directory of disease and support groups first published in a spiral-bound book and now a digital database, DiseaseInfoSearch.org. öö Co-sponsoring (with the Smithsonian Natural History Museum in Washington, D.C.) the People’s Genome Celebration, a landmark genetics public awareness event. öö Leading the coalition for GINA, the Genetic Information Nondiscrimination Act, signed into law in 2008. (See page 27 for more on GINA.) öö Partnering with Private Access, an information access protection platform, which led to PEER (Platform for Engaging Everyone Responsibly), a privacy-assured health information registry. öö Launching GenesInLife.org to help users learn about personal genetics. öö Leading the creation of Baby’s First Test, the nation’s first educational newborn screening clearinghouse. öö Receiving the National Patient-Centered Clinical Research Network (PCORnet) grant for CENA (Community-Engaged Network for All), an effort 22

caringvoice.org • Fall 2016 • Understanding genetics

traditional health settings to groundbreaking research endeavors.

öö We are resolute that people come first. We partner with individuals and communities to transform health systems to respond to what people most need. öö We convene powerful networks, deliver actionable information, build intuitive tools, and drive policy decisions. öö We empower individuals, families and communities to reclaim their health and thrive.

We do this through policy work on Capitol Hill, through our various websites and through building novel tools.

Who are your services for?

We serve all stakeholders—patients, caregivers, clinicians, researchers and policymakers.

Which of your services are relevant to people with chronic illness?

The most relevant to people with chronic illness are the disease and support group database, diseaseinfosearch.org, and genesinlife.org, where you can learn more about understanding your personal genetics and diagnosis. Some people might also like our Advocacy Atlas, a toolkit to empower and educate individuals with special health needs and their loved ones regarding self-advocacy.

| Understanding genetics | A good first step is geneticalliance.org/advocacy-atlas. This How do you work with patient organizations?

We provide technical assistance—helping advocacy connects people to resources that are important for them as organizations with everything from soup to nuts, and also they navigate managing their own health. In addition, the giving them the tools they need to participate in policy aforementioned genesinlife.org is helpful for understanding discussions. In addition, we offer an inexpensive, easy-to- genetics overall. use registry system and a biobanking facility.

Do you recommend patients share genetic information on registries? Is there any reason to Why is genetics relevant in conversation about be cautious? disease?

We recommend that people share Essentially all diseases what they are comfortable with— have a genetic component. some families desperately want to Sometimes they are caused share to find others like them, or by genes with mutations to find enough people to attract in them. Sometimes our researchers. background genes make

“

Understanding the genetic component of a disease can shed light on where an intervention might take place.” a disease better or worse in someone. Understanding the genetic component of a disease can shed light on where an intervention might take place. Perhaps a drug can interrupt the cycle the mutated gene has set up, for example. However, genetics are only part of the picture—one piece. It is important to also consider environment, diet and so on.

What do you recommend as first steps for patients and families wanting to know more about genetics and Genetic Alliance?

Yes, one should be cautious. It is possible that one or one’s family or community could be discriminated against based on some aspect of genetics—such as risk or probability of getting a disease in the future, some association with a gene for propensity for obesity or other stigmatizing conditions.

We built our Platform for Engaging Everyone Responsibly (PEER) with this in mind—people can share to greater and lesser degrees. Some people have such sick children that they have no worries at all about sharing. All of these preferences need to be respected and they are in our cross-condition, take-all-comers, community-based, registry system: peerplatform.org.

This seems like an exciting time to be involved with genetics. How does the current emphasis on precision medicine and genetics impact the work of Genetic Alliance?

Wow—we are in the right place at the right time. This is our 30th year, and we have been holding the genetics flag for all of these years—and only now is the whole nation waking up to it. We are involved in the Precision Medicine Initiative on the advisory panel. We have requests daily to participate in more and more projects—we cannot keep up!

Sharon F. Terry has served as CEO and president of Genetic Alliance, in Washington, D.C., since 2004. She and her husband co-discovered the ABCC6 gene, where the mutation that causes pseudoxanthoma elasticum (PXE) is found. They cofounded PXE International.

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G E N E T I C S

Resource guide As the nation’s medical research body, the National Institutes of Health (NIH) is a wealth of information—so much information that knowing what’s available can be a challenge.

Let these highlights from NIH and a few other genetics and health resources guide you.

Practical information for the public: For user-friendly genetics information developed specifically for the public, visit the Genetics Home Reference online: ghr.nlm.nih.gov. You’ll find a detailed glossary of genetic diseases, conditions and syndromes. Each entry contains information on occurrence, genetics, inheritance, diagnosis, management and resources for learning about each condition.

You can browse health resources to find: support, educational materials, policy and ethics conversations, a glossary of genes and chromosomes, advocacy, financial assistance and basic explanations of human genetics details.

Detailed information beyond the basics: At the National Human Genome Research Institute, originally organized for work on the Human Genome Project, researchers study all aspects of the genome. Its website, genome.gov, contains plentiful genetics sources for patients and the public, health professionals and scientists.

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caringvoice.org • Fall 2016 • Understanding genetics

| Understanding genetics | ÎÎ Try the section for patients, at bitly.com/genetic-public, for resources on genetic counseling, pharmacogenomics, rare diseases, genetic testing, disease prevention and treatment, community resources, family history, video education and more. ÎÎ Educational resources for health professionals are at bitly.com/genetic-professional. You’ll find recommendations for genetics and patient management, newsletters, information on webinars, lecture series and conferences to attend, insurance guides, ethics issues and other topics related to genetics and medical care. ÎÎ The Center for Inherited Disease Research (CIDR) is a genotyping laboratory, located at Johns Hopkins University in Baltimore. It provides innovative genomic services with the purpose of expanding understanding of disease and assisting with discoveries for patient care. Many researchers collect data from patients and their families, using the lab to evaluate genetic aspects of conditions. ÎÎ CIDR and other NIH studies sometimes recruit participants with genetic conditions for research.

For a list of currently recruiting studies, visit: bitly.com/nhgri-study. ClinicalTrials.gov is a searchable registry for trial results from around the world.

And at clinicalstudies.info.nih.gov, you can search all NIH Clinical Center studies, ongoing and recruiting.

To learn how to be part of an NIH trial, visit: cc.nih.gov. ÎÎ Using data from studies like these, NIH hosts a growing number of searchable registries to help health care providers and researchers discover diagnoses or new treatments, or to improve understanding of conditions. One collects test information for generelated disorders from test providers. Another, called HapMap, catalogs genes by connections to diseases and location. There’s a catalog of common genetic variation, a protein database called UniProt, a data commons for cancer genome information and more. ÎÎ The Genetic and Rare Diseases Information Center offers searchable information specifically on rare or genetic conditions at rarediseases.info.nih.gov. The site offers video tutorials answering the questions asked most, brochures, fact sheets, guides and teaching resources meant to direct anyone interested through learning more about rare diseases from any angle.

Outside resources ÎÎ A primary goal of Genetic Alliance is to connect genetics data with health solutions. One of the

organization’s recent initiatives is to launch a major

registry

of

genetic-related

patient

information

organized in part by disease. The organization runs

a variety of useful websites including genesinlife.org,

which offers detailed information about how genetics

affects you or how to talk to your health care providers.

It even includes a form for submitting questions to experts. Read more about the work of Genetic Alliance

in a Q&A with the director on page 22.

ÎÎ The World Health Organization’s Human Genomics

in Global Health initiative aims to share genetics

information as it relates to health and develop new

approaches to health and genetics. For the public, it

is probably most helpful in terms of the resources it collects on genetics: who.int/genomics/elsi/en/.

ÎÎ Centers for Disease Control and Prevention (CDC) acts as the federal health protection agency, also under

the U.S. Department of Health and Human Services.

The CDC Office of Public Health Genomics provides

extensive research on genetic data sharing, precision medicine, family health history, searchable databases on genomics and more at cdc.gov/genomics.

ÎÎ The Precision Medicine Initiative is worth keeping an eye on for project updates. The project will collect

the latest research connecting personal genetics with

your health care, including places to get involved in

research. Visit whitehouse.gov/precision-medicine to stay updated as the research phase of the initiative gets underway. Learn more on page 16.

If there’s something you’re wondering about that

hasn’t been covered here, try searching nih.gov—there’s a good chance you’ll find it somewhere in the extensive

research compiled there. And if you’re really interested in

learning more about the day-to-day inner workings, prior achievements and future goals of NIH, they give daily tours

of their facilities. See nih.gov/about-nih/visitor-information

for all the details.

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| Health |

Genetic information & SSA

G

enetic tests are still a relatively new phenomenon. They can help with treatment, family planning, health decisions and more. (Learn more about genetics and testing beginning on page 16.)

In Social Security Administration (SSA) disability applications, genetic information is increasingly relevant.

The role of genetics continues evolving as the number of genetic tests has grown to more than 1,000, the cost of testing drops, and more disability applicants submit genetic information as part of their medical evidence.

As a result, in April SSA released a Federal Register notice explaining how they consider the results of genetic tests in disability claims under titles II and XVI of the Social Security Act. (While the notice does not have the same force and effect as statutes or regulations, it is legally binding.) In general, if you are seeking benefits for a genetically diagnosed condition, genetic testing is helpful because it can provide more evidence, strengthening your claim, and won’t hurt it in any way.

Genetics and building a stronger disability case Several disability listings (such as Edward’s syndrome listing 110.08, and cystic fibrosis listing 3.04) require diagnostic genetic test results at step three of the five-step sequential disability evaluation. But, with the sole exception of non-mosaic Down syndrome (considered a disability from birth), genetic test results alone are not enough to make a disability determination. Once a test proves the presence of a condition, SSA still needs non-genetic evidence about the impairment’s effect on a person’s functioning to determine the most the person can do despite his or her limitations.

In Huntington’s disease, for example, results of genetic tests are not independently indicative of disability, but can be assessed for consistency with a person’s symptoms and alleged limitations.

If a disability applicant’s condition listing does not require genetic testing for a finding of disability, genetic tests can still play a part in the determination. Applicants can include genetic test results in their medical evidence, 26

caringvoice.org • Fall 2016 • Understanding genetics

and medical evidence receives the greatest weight in any SSA evaluation. Genetic tests typically do not provide SSA with significant information about impairment severity or functional capacity, but they can be used to establish a medically determinable impairment (any condition that has lasted or is expected to last 12 months or longer).

Genetic information could also come up during the disability review process. Once SSA deems an individual disabled, a diary for continuing disability review (CDR) is set. During a CDR, SSA pulls recent medical records for review to ensure a condition is still disabling. SSA will review conditions that are expected to improve more often than incurable illnesses. Most commonly, cases are pulled for CDR every five to seven years. SSA conducts a full evaluation of all evidence, including genetic test results, when setting diary dates and determining when next to review a beneficiary’s claim.

Genetic protections and disability Another protection SSA has in place for applicants is the Privacy Act of 1974, part of the Social Security Act, which regulates disclosure and the collection, maintenance, and use of an individual’s information in SSA’s system of records.

Under the Privacy Act, SSA generally cannot disclose genetic test results without the valid, written consent of the subject of the record.

In conclusion, genetic test results are not independently sufficient to make a disability determination (with the few exceptions listed above), and SSA will neither require an applicant to pursue genetic testing nor disclose any genetic information to third parties without consent. But if you have a genetic condition, including genetic information is a great way to strengthen your case for disability benefits.

CVC Senior Patient Advocate Lauren Patrizio, Esq. is a graduate of Virginia Tech University in Blacksburg, Va., and Roger Williams University School of Law in Bristol, R.I. She is a member of the Virginia State Bar.

| Health | In the early years of genetic science, people could and did experience health care or employment discrimination based on their genetics.

Protections at work and in health care

Fortunately, after 13 long years of debate, legislators and advocates helped pass the Genetic Information Nondiscrimination Act (GINA), signed into law in 2008. GINA protects a person’s genetic information—including family medical history, carrier testing, prenatal genetic testing, susceptibility and predictive testing, and any analysis of genes, mutations or chromosomal changes—from being used against them in the workplace and in accessing health care. In doing so, it also breaks down barriers for genetic researchers.

If you are considering genetic testing, it’s important to understand what GINA does for you.

What GINA protects: GINA covers genetic protections for health insurance. It prohibits health plans and health insurers from denying coverage to an otherwise healthy individual based solely on a genetic predisposition to developing a disease in the future.

Insurers cannot use a person’s genetic information to set eligibility requirements, or establish premium or contribution amounts.

And they can’t request or require that a person undergo genetic testing.

GINA also describes what employers cannot do. It bars them from using someone’s genetic information when hiring, firing or promoting people. And it bars employers from treating a person differently based on genetics.

What GINA doesn’t protect: GINA does not cover companies that sell life insurance, disability insurance and long-term care insurance. These companies can deny coverage based on an individual’s genetics.

GINA does not reach workers’ compensation claims, which are governed by state law.

Some states permit genetic testing, but these statutes often require written consent.

GINA does not apply to employers with fewer than 15 employees.

GINA does not apply to a genetic condition that is already diagnosed and manifest.

GINA does not apply to the following member groups: Members of the U.S. military.

Veterans obtaining health care through the VA (Veteran’s Administration).

Individuals using the Indian Health Service.

Federal employees enrolled in the Federal Employees Health Benefits program.

While GINA doesn’t protect every instance of possible discrimination, the law’s passage was a huge accomplishment for those with genetic predispositions for disease, as well as for researchers who seek more genetic information in order to make progress as they work to find new ways to treat disease.

To fully understand your rights under GINA, and your individual benefits or risks of genetic testing, talk to a genetic counselor. (Learn more about GINA and genetic counseling from Jessica Jackson on page 20.)

27

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Quick & healthy The secret to perfect grab-and-go lunches

According to the Harvard School of Public Health nutrition guidelines, the Healthy Eating Plate, a balanced meal is made up of four basic things: a quarter proteins, a quarter whole grains, and half fruits and vegetables. Healthy oils are OK for cooking, and dairy should be limited to one or two servings per day.

If you keep a few staples on hand, and buy and prepare your favorite fresh fruits, veggies and proteins at the beginning of every week, you can get to Friday with a variety of healthy lunch options for work or school.

Prep Over the weekend, plan all five meals, make a schedule and a grocery list and go shopping. Do any food prep that can save you time later. Ideas: pp Roast vegetables in a few spices and olive oil to use in a quick pasta dish, grain bowl, tortilla or simply as an afternoon snack throughout the week. pp Chop vegetables that won’t brown, such as cucumbers, tomatoes, broccoli, carrots, cauliflower and kale to make lunch assembly quick and easy for salads and wraps. pp Grill and slice a chicken breast or two to use as an easy mix-in for grains, salads and sandwiches. pp Divide any fruits into single-serving containers for salad toppings, snacks and dessert.

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| Health |

Sample menu Here’s a general guide of how to mix and match foods for a week’s worth of meals, and stick to the Healthy Eating Plate guidelines when paired with a serving of your favorite fruits.

Monday | Southwest pita Spread a quarter of a mashed avocado mixed with a bit of lime juice inside half of a wholegrain pita pocket. Fill with spinach, grilled chicken, hard-boiled egg slices and a few teaspoons each of: sweet corn cut from a cob, sliced cherry tomatoes, cooked black beans and cottage or mozzarella cheese. Add peppers, cilantro or hot sauce to taste.

Tuesday | Asian grain bowl Top cooked rice with tuna, roasted broccoli, zucchini and mushrooms, chopped snap peas and soy sauce. Add peanuts, green onion and spice to taste.

Wednesday | Italian Mason jar salad Put a small amount of Italian dressing in a jar (or any container) before adding—generally from sturdiest to most delicate—grilled chicken, a few sliced olives, tomatoes, red onion and cucumbers, a few pinches of grated Parmesan and leafy greens. Shake before eating, or dump contents into a bowl.

Thursday | Turkey roll Spread hummus or mustard on two slices of turkey breast. Distribute lettuce, avocado quarter, string cheese and cucumber sticks between the centers of both, and then roll them up and secure with a toothpick.

Friday | Roasted vegetables and pasta Top whole-grain pasta with roasted zucchini, broccoli, tomatoes, onion and mushrooms. Mix in a light cheese such as mozzarella or ricotta. Add a bit of your favorite protein if you’d like.

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caringvoice.org • Fall 2016 • Understanding genetics

| Health |

Create your own Create your own menu by mixing and matching foods from each group: Vegetables Zucchini, mushrooms, broccoli, peas, carrots, spinach, kale, Brussels sprouts, cauliflower and beets. (Harvard’s guidelines say to avoid potatoes because they cause a spike in blood sugar.)

Fruits Tomatoes, avocados, blueberries, raspberries, blackberries, apples, bananas, oranges, watermelon, peaches, pineapple and pears.

Healthy proteins Baked white meats, grilled seafood, meat alternatives such as tofu, seitan or tempeh, beans, chickpeas, lentils, eggs, seeds or nuts. Limit red meat and avoid processed meats.

Whole grains Pita, wraps, brown rice, quinoa, tortillas, wheat bread, whole-grain crackers and pasta. Limit refined grains.

Healthy oils Olive, canola, avocado and coconut oils are better than butter.

Dairy Greek yogurt, cottage cheese, ricotta cheese, mozzarella and milk are some of the healthiest options. Avoid dairies high in sodium or sugar and that are highly processed.

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| Health |

Recognizing anxiety

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hange is often frightening, and being diag- necessary to improve your overall health. nosed with a chronic illness is a particularly scary Feelings associated with anxiety are fear, panic and terror. change. Dreams and aspirations are shattered or Anxiety can also manifest in physical symptoms such as hot altered. Thoughts of financial difficulties ensue. Some dread or cold flushes, dizziness, racing heart, shortness of breath, the impact on their quality of life. chest pain or tightness and nagging aches and pains.

These feelings are normal and may come and go, settling Do not assume any symptoms you experience like this as you adjust to a new reality. But if such feelings persist are a normal reaction caused by the disease process or and begin to interfere with your ability to function in life, treatments involved. This is the assumption that causes it is time to take action. However, in the United States an anxiety to go undertreated in chronic illness. Seeking help is estimated 30 percent of individuals with anxiety disorders a sign of strength not weakness. While patience, flexibility go through life untreated. Many don’t know the signs and resilience are all good coping mechanisms, the loss of to watch for or don’t think there’s anything they can do control experienced with chronic illness can overwhelm about anxiety. anyone’s coping abilities. It’s important to understand when If you experience anxiety during an illness, you are to seek help. far from alone. Significant psychological symptoms are common in patients with chronic medical problems. Even if It’s time to seek treatment when symptoms cause: a person is not diagnosed with a specific or obvious mental • Anxiety attacks about treatment or future prognosis. disorder, chronic illness can cause unusual and complicated • Avoidance of necessary treatment because it causes emotions, actions and thoughts worth paying attention to. unbearable feelings of anxiety or sadness.

Anxiety should not be ignored. Chronic anxiety • Repetitive nightmares or intrusive thoughts and exacerbates illness and chronic illness exacerbates anxiety. rumination about diagnosis or treatment of your Risk of a coronary event or stroke tripled in women with medical condition. a history of panic attacks according to data from 3,300

postmenopausal women who took part in the Women’s Health Initiative, a 15-year National Institutes of Health (NIH) research program. Health risks in general are heightened for people with psychological symptoms.

When you learn to recognize the symptoms, seek treatment and break this vicious cycle between anxiety and illness, you can experience better outcomes on both sides of the equation.

Symptoms

Because untreated anxiety can worsen the physical impact of a diagnosis, it is important to be aware of its symptoms so that if they appear you are prepared to locate the tools 32

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• Worry over your condition that interferes with sleep.

• Anxiety attacks about not properly following the treatment regimen.

• An inability to talk to others about how you feel about your illness.

• Avoidance of socializing because of your condition.

• Shame and self-blame about your disease.

• Loss of pleasure in activities you once enjoyed.

• Chronic irritability.

• A turn to substances such as alcohol to quell the anxiety.

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• Thoughts of suicide because you believe that your condition makes your life worthless or too painful to endure. Such thoughts require immediate professional attention.

Primary care providers are a good place to start for seeking help. They are able to evaluate, diagnose, counsel and even start medication if needed. They can also provide referrals to mental health specialists when greater intervention is required.

Treatment

Treatments can vary, but one of the initial steps and mainstays is cognitive behavioral therapy, often thought of as “talk therapy.”

With cognitive behavioral therapy, individuals learn to evaluate and challenge negative patterns of thinking so that they internalize more positive and beneficial strategies.

An individual diagnosed with a chronic illness who believes that they have lost the ability to make a useful contribution to life is likely to experience a depressed mood and avoid previously enjoyable activities. But a different individual with the same condition, who acknowledges that their life will have to change, but who believes that they will be able to discover new ways to make a contribution, is likely to make a better psychological adjustment to their illness.

Cognitive behavioral therapy encourages and teaches that more positive outlook, helping the first individual take on the thinking patterns of the second individual.

If cognitive behavioral therapy is not enough, medications may also be used. Medications should only be used in conjunction with psychotherapy. Certain antidepressants

known as SSRIs (selective serotonin reuptake inhibitors) are good at calming the symptoms of anxiety, and they help by restoring the brain’s natural chemistry. Another class of drugs known as benzodiazepines can have a more immediate impact but they’re not recommended for longterm use, because patients develop tolerance and require increasing doses. These medications come with risks of abuse and dependency.

Lifestyle changes can help with anxiety as well. Such changes can include: • Knowing as much about your illness as possible.

Knowledge lends to empowerment and informed decisions. This can help you feel like less a victim of your disease.

• Making sure you choose a doctor that is compassionate and that you feel comfortable with in your communication.

• Seeking out support groups for your condition to avoid social isolation.

• Maintaining a healthy lifestyle regarding diet and sleep.

• Engaging in physical activity according to your ability.

Living with a chronic illness is a challenge and involves significant uncertainty. It’s no surprise that anxiety is often married to the news of diagnosis. With a better understanding of anxiety and its impact, you can recognize the signs and know when to seek appropriate treatment, preventing it from impacting your overall health.

Robert E. Mayfield, M.D., maintained an active family medical practice for 15 years. He now oversees CVC’s Department of Medical Affairs and Compliance, providing strategic medical advice and counsel on new disease funds prior to program implementation.

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STAYING COVERED Health care open enrollment

drugs. Keeping copies of insurance documents from the previous year, such as explanation of benefits documents, can help with this process.

Ultimately, each individual’s needs may vary and healthcare.gov or medicare.gov are good places to start for guidance. For individual coverage, you can also contact the ACA call center 24 hours a day, seven days a week, at 1-800-318-2596. For local in-person help, type your ZIP code in the online search form. For Medicare, call 1-800-633-4227. Your state’s health insurance program and Caring Voice Coalition can all also offer assistance exploring health insurance during open enrollment.

If you are insured:

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all is the season of change and, thus, the per- If you are already insured, the annual open enrollment fect backdrop for the annual open enrollment periods period may still warrant action because your plan details or for both Medicare and the individual insurance market. your own health needs have changed.

During this limited time period each year, Americans can If you are unsure whether to change your policy, conenroll in or make changes to insurance coverage and benefits. sider the following. In the time since you chose your The Affordable Care Act (ACA) requires all people current policy: to have health insurance or pay a penalty. If you miss the • Have you begun seeing a new primary care doctor opportunity to enroll in or change your coverage, you could or specialist? end up owing extra money on your tax return or paying for a • Has your doctor prescribed a new drug or made health plan that does not sufficiently meet your health needs. adjustments to the dosage and/or quantity of your So be sure to make note of these periods. prescriptions?

The open enrollment periods to secure coverage for 2017 • In 2017, are there new services or procedures you are as follows: anticipate needing?

• For individual coverage purchased through a health • Has your financial situation changed enough that you insurance exchange or directly from a private need to reconsider the affordability of your health insurance provider: Nov. 1–Jan. 31. insurance premium and out-of-pocket costs?

• For Medicare prescription drug plans and Medicare If you answered “yes” to any of the above, take a moment Advantage plans: Oct. 15–Dec. 7. to review your current health plan to ensure it still meets Read on to better understand what these open enrollment your needs. If it doesn’t, explore what other health plans are periods might mean whether you’re currently insured or available. not—and what happens if you fail to enroll.

Along with your own needs changing, the benefits or prices offered within the plan you have often change If you are uninsured: somewhat from year to year. Your insurance company Use the enrollment period to sign up for a plan that works should alert you to these changes around the time of open enrollment. But you’ll still want to review your plan for best for you and your needs.

When exploring health insurance options, make sure you changes that could impact you. These might include: have information for each member in your household who needs coverage, including basic demographic information, a list of medical needs, physicians and current prescription

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• Changes to provider and facility networks. Your doctors may no longer be in-network—even if they were last year.

| Health | • Changes to prescription drug formularies. Insurers may remove prescription medications from the formulary, or update drug restrictions like quantity limits.

• Changes to out-of-pocket costs and premiums.

Insurers may change costs such as deductibles, copayments, out-of-pocket maximums and premiums from year to year, making you reconsider your plan’s overall affordability.

Are you sufficiently insured?

It is important to understand what “minimum essential coverage” looks like—and doesn’t—in order to avoid the penalty. Examples of qualifying health plans that should fulfill the criteria for minimum essential coverage are: • Any health plan purchased through a health insurance exchange.

• Individual health plans purchased before March 23, 2010 (and therefore grandfathered into the Affordable Care Act requirements).

• Group health coverage, including retiree plans and COBRA (Consolidated Omnibus Budget Reconciliation Act).

• Medicare Part A paired with any additional Medicare plan options. (Medicare Part B only, without Part A, does not qualify.)

•

Medicaid (excluding limitedcoverage Medicaid plans).

•

Children’s Health Insurance Program (CHIP).

•

Student health plans.

Plans that alone are not considered minimum essential coverage, and therefore may result in a penalty include: vision or dental insurance, worker’s compensation benefits, medical or prescription cost discount plans or disease-specific coverage.

If you are unsure whether your current plan qualifies as minimum essential coverage, you should contact your employer or insurance policy provider directly.

Penalty You, your spouse or tax dependents must have “minimum essential coverage” for at least nine months in the tax year to avoid paying the penalty.

The penalty is calculated in one of two ways: as a percentage of household income and as a per-person penalty.

You will pay the higher of the two, for each uninsured month, due when you file your federal tax return for the year that you did not have minimum essential coverage. Here are examples of how those might break down.

Certain exemptions exist to the penalty based on things such as income and membership in certain groups. You can see if you may qualify for an exemption on healthcare.gov.

Failure to enroll Aside from the penalty, if you don’t enroll in a qualified health plan during open enrollment, you may not be able to enroll until the following year. While special enrollment periods are available, many now have stricter qualifying criteria. For instance: • Previously a change in residence was sufficient to qualify. Now applicants must also show proof they had qualifying health coverage for one or more of the 60 days prior to the residence change.

• Notification of change to income or household size used to be enough to qualify. But applicants must now show proof that they had qualifying health coverage for one or more of the 60 days prior to the change.

•

Now, loss of coverage must not be the enrollee’s fault, such as nonpayment of premium.

Information related to available exemptions and special enrollment periods can be found at healthcare.gov or by calling 1-800-318-2596.

CVC Program Manager Lauren Ruiz helps patients understand and obtain health insurance coverage. She graduated from Virginia Tech in Blacksburg.

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Animal

Photo by Lindy Rodman/VCU.

companionship Animals are providing more patients bright spots in the midst of difficulty, thanks to a growing arena of health research.

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lmost any patient can request visits from dogs as part of Dogs on Call at Virginia Commonwealth University (VCU) Medical Center in Richmond.

The program’s volunteers have heard “so many” success stories, says Dr. Sandra Barker, director of VCU’s Center for Human-Animal Interaction, which runs Dogs on Call.

“Parents in the hospital often thank our Dogs On Call teams for bringing a smile to their children’s faces when they haven’t seen one for days, or seeing their children sit up for the first time,” she said. “Physicians thank our teams for making it easier to perform painful procedures by having the therapy dogs present.”

They receive written notes expressing gratitude for bringing joy to an otherwise discouraging situation.

“I could go on and on,” Barker said.

Her stories help explain why such programs are gaining popularity—and so does the growing body of research demonstrating the ways animals can improve quality of life for many people, including those with chronic illness.

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Trained animals According to Barker, close to 65 percent of U.S. households own pets.

“Yet only fairly recently have we begun to explore the impact of this relationship on health,” she said. The center researches animals in hospitals, colleges, workplaces and communities—measuring their impact on health indicators such as stress.

Studying animal companionship fits into the well-established link between strong social support and better health.

“We believe that companion animals represent a form of nonjudgmental social support,” Barker said. They have demonstrated a range of benefits related to that support for a variety of health circumstances.

“Several studies, including ours, show benefits of animal-assisted interactions for people with psychiatric disorders including reduced fear and anxiety, and increased motivation to attend group therapy when a therapy dog is present,” she said. “Others have also investigated benefits of pet ownership for older adults, noting reduced depression and loneliness.”

| Health | Numerous studies have also demonstrated important benefits of pet ownership for people with heart conditions.

“These studies found reduced cardiovascular reactivity to stressful events, lower systolic blood pressure, increased physical activity, and increased survival associated with established cardiovascular disease,” Barker said.

In certain instances, pets can interfere with medical intervention, noted a literature review on pet ownership and human health published in the journal, BMJ. For example, people with pets can be less likely to accept medical help if it means they’ll need to be away from their pets. Some

Other studies have shown that when humans interact with dogs they feel less stress. Such research has specific significance for people with chronic illness.

“It is well accepted that stress contributes to many chronic illnesses so we contend that interacting with dogs may buffer the impact of stress and thereby contribute to improved health,” Barker said.

Not for everyone Medical professionals, including Barker, are quick to note keeping animals, or engaging with them for therapeutic purposes won’t be the right option for everyone.

“Pet ownership is not a good idea for anyone who is not willing or able to adequately provide for the health and welfare of the pet,” she said. “Animal-assisted interventions are not appropriate for anyone who does not consent for them and for persons with compromised immune systems.”

Photo by Lindy Rodman/VCU.

aren’t emotionally equipped to cope with a potential loss of the animal. Others may experience heightened allergic reactions as a result of an illness.

Animal ownership also costs money. Health insurance does not cover animal-assisted interventions, although many therapy programs are provided at no cost. Do research and check with your doctor before considering animal-related therapies or services. Animal training is also important.

Barker said training for potential therapy animals should begin early by keeping pets well socialized and comfortable in a variety of settings. Dogs on Call dogs are registered with a therapy animal organization, either Pet Partners or Alliance of Therapy Dogs, and go through training and evaluation to ensure the dogs’ temperaments, health and behavior is compatible with the program.

Photo by Rebecca Holloway/CHAI

“Basic obedience training is important to make sure the therapy animal follows control commands,” she said.

“Therapy animals must be predictable, reliable, always under Continued on page 38 37

| Health | Continued from page 37 the handler’s control and never show aggressive tendencies. For hospitals, we recommend therapy animals be limited to dogs.”

Barker hopes support for animal-assisted interventions continues to grow. She sees therapy dogs as a low-cost complement to traditional medicine that can improve quality of life for many people, without negative side effects.

“I also hope that more health care facilities develop policies and procedures for appropriately trained and evaluated therapy dog teams to interact with their patients and staff,” she said.

Check for therapy dog groups or programs in your area to volunteer or to request animal-assisted care. Learn more about the Center for HumanAnimal Interaction at chai.vcu.edu.

Individual animal support Animal assistance can also be helpful to people with chronic illness on a more permanent basis—with service animals and emotional support animals.

Both are slightly different than therapy dogs.

Service animals • To qualify: You have a disability as described by the Americans with Disabilities Act (ADA) that significantly limits your ability to do at least one major life task. ADA only recognizes service dogs (and in specific cases miniature horses).

• Potential tasks: Service dogs might provide guidance, detect seizures, carry oxygen, recognize and assist with panic attacks, alert you to take medication, stabilize you and more.

• Training required: Service dogs are trained to perform or assist with specific tasks that mitigate the disability. No certification is required by law, but many states offer training programs.

• Protections: The ADA and other legislature require access to government services, places of public accommodation, employment, telecommunications and transportation. That includes no-pet housing, free of charge. In some instances, identification is required.

Emotional support animals • To qualify: A licensed health professional prescribes an emotional support animal (ESA) as part of a treatment regimen for a mental health condition. Any domesticated animal qualifies.

• Potential tasks: Provide comfort, affection, social support and reassurance.

• Training required: None.

• Protections: The ADA does not protect emotionalsupport animals. However, the Air Carrier Access Act and the Fair Housing Amendments Act of 1988 offer some protections for flying with an ESA and accessing no-pet and pet-feeless housing.

Photo by Rebecca Holloway/CHAI

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To learn more and voluntarily register assistive animals, visit National Service Animal Registry at nsarco.com.

We’re Here to Help.

(888) 267-1440 CVCinfo@caringvoice.org www.caringvoice.org

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

How We Help 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