Category Archives: Featured

Featured Posts for the Slider

← Previous post Next post →

We Can Be Heroes: Nicole Murray

Posted on by Charlie

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

Ronan, Jonathan, Nicole, and Declan Murray.
Ronan, Jonathan, Nicole, and Declan Murray. (Photo by Sarah Kaupp)

Ronan was officially diagnosed in late April 2012, at four months old, via video EEG, though he was having clinical spasms in March. It took nearly five weeks for his clinical spasms to evolve to infantile spasms and hypsarrhythmia on the EEG.

The moment he started having them, I knew they were IS. I had read about IS when I joined an epilepsy parent support group and had seen videos of children having IS, so I knew. It’s very different than other seizure types; they don’t look all that terrible, but they are incredibly catastrophic.

I’ve always been a runner. It has always been a great stress reliever for me. I knew that I could pair my love of running with raising awareness for Ronan’s condition, and that’s why I chose to run for the Epilepsy Foundation.

Ronan is defying the odds and breaking the rules. At ten and a half months old, he was not sitting, not babbling, and not self-feeding. He was having anywhere from five to 50 seizures daily. Since the morning of October 23, he has not had one seizure!

He had surgery three months ago, and he’s sitting unassisted, babbling, self-feeding, plus, starting to really bear weight on his legs. His development has taken off, and he’s so happy and alert, despite still being on two seizure meds.

The surgery did leave him with deficits, some of which will be permanent. Some of which, we’ll hope to overcome with intensive therapy.

He does have significant weakness/unawareness on his right side, as his entire left-brain hemisphere is now disconnected/removed, but he’s showing steady progress with arm recovery. His leg has recovered very well. He will have a permanent visual field cut. The right visual field of both eyes will never return.

Right now, we are working hard with seven-plus therapy appointments per week, and celebrating in each and every inch and milestone he’s making.

I’m now back to work, and his therapy schedule (and our other son) keep us very, very busy. I try to get out [to run] at least three, ideally four times a week.

For more articles like this, click here to subscribe to COMMUNITY magazine!

Running helps me feel strong, both physically and mentally. I also never take for granted that I have the physical abilities to run, as I’ve met many children now who cannot.

I don’t know [what marathons I’m running next]! I think I’ll probably be more inclined to sign up for a half marathon first. Training for a full marathon is a serious time commitment. Perhaps Philly again.

Regrettably, I have not been involved with the Epilepsy Foundation beyond raising money via the marathon. Eventually, I’ll become more involved, but right now, Ronan’s therapy and needs are intense. I am involved with several online support groups for infantile spasms and polymicrogyria, and the Hemispherectomy Foundation, among others.

You can follow Ronan’s journey and progress here:

Posted in About Us, Diseases, Featured | Tagged , , , , , , , , , , , , , , , , , , | Leave a comment

We Can Be Heroes: Nicole Jeray

Posted on by Charlie

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

I first experienced symptoms of narcolepsy in college. I fell asleep in all my classes. My notes were a scribbled mess because I was asleep. I was fighting so hard to stay awake and listen to lectures.

Nicole Jeray competing in the Safeway Classic.
Nicole Jeray competing in the Safeway Classic.

I also fell asleep while driving. I took a special class in Chicago that was an hour-and-15-minute drive from campus, and I’d fall asleep every single time I drove back. I’d take the wrong exit and get lost going back to campus.

I fell asleep in the summertime driving to far away golf tournaments. I thought it was the exhaust from my old car. I’d roll the windows down and turn the music on high to help me stay awake. I guess I got used to being sleepy and fighting it—it just became a part of life. I had very vivid dreams and sleep paralysis in college. I thought this was normal, and my friends enjoyed hearing about my wild dreams.

I played lots of sports as kid. I was very athletic and had excellent hand-eye coordination. Golf was just another sport at first. When I was 15, I started working at a golf course, and it was then that I became addicted to the game.

For more articles like this, click here to subscribe to COMMUNITY magazine!It was five years between the onset of symptoms and an actual narcolepsy diagnosis, and I was only diagnosed because I developed severe cataplexy. In those five years, I went to several doctors looking for answers. ‘Overworked’ was the only diagnosis I received. I took vitamins and even became a strict vegan in an attempt to find more energy.

After a year and a half of eating this way, my symptoms never improved, and I developed severe cataplexy. I was lucky to see a doctor who listened to me and researched further to find an answer. Finally I heard the word ‘narcolepsy.’ One week later, I saw a neurologist and did a sleep study and found that I had a classic, textbook case of narcolepsy.

I was relieved that there was a name, and that I was not going to die. I would be able to continue to pursue my golf career. Little did I know, that day was only the beginning of a long roller coaster ride and a terrific education on life.

I have to force my mind to think about something else to try to prevent cataplexy. It stinks though, to not be able to enjoy the excitement like you want. I became quite good at remaining even-keeled, never too angry and never too excited. It’s built into my personality now.

Sometimes I picture that little kids might be watching, and I don’t want to scare them. It’s pretty traumatic watching someone suddenly become totally limp and fall to the floor. Becoming the center of attention and ruining a fun moment for people is no fun. It happened a lot, but diverting my attention would help.

Having narcolepsy taught me to appreciate each waking moment! I learned to set priorities. Important things must come first—when I have the energy.

I also learned how to say ‘no.’ I used to do everything that was asked of me, and more. Now, I do things that I actually enjoy and the things I want to do. Life is much happier and easier. Funny, it took getting narcolepsy to learn this.

I like that I’m more even-keeled. It’s less stressful, and less dramatic. I watch other people get so uptight about things, or make such a big deal over nothing. It seems unhealthy, and it drains energy.

My visualization skills have also improved. I must visualize and believe that I’m going to hit that shot just right. This way, when I do hit a great shot, it’s no surprise, and I don’t get so excited and have full cataplexy.

Narcolepsy also taught me how to take care of myself. When I do, my symptoms are much better. I drink plenty of water, eat the right things, maintain a sleep routine, good friends, and healthy relationships. It now baffles me that I didn’t do all these things before. Why does it take a life-changing disorder to figure out what the important things are in life?

I finished 113 on the LPGA money list in 2013—it’s the best I’ve finished on the LPGA since being diagnosed with narcolepsy in 1996. This position will get me into between 10 and 17 events in 2014. I’m also doing the Swinging for Sleep online fundraising campaign again in 2014 to promote narcolepsy awareness, research and patient support.

I care so much about my career that I must take extra care when it comes to managing narcolepsy. I must be extremely aware of how my body and brain feel so I can perform my best. I pay attention to the things that make me sleepier or more alert.

Golf helps narcolepsy in many ways. I’m outside and in sunlight, golf is active, and I set my own schedule. The longest I generally have to be alert and awake is about six to seven hours—which used to be extremely challenging before my latest medication change. I spend a lot of time in the gym because of golf. This has to help my narcolepsy.

Posted in About Us, Diseases, Featured | Leave a comment

We Can Be Heroes: Michael Poole

Posted on by Charlie

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

My epilepsy was first diagnosed when I was 17 or 18 years old. I was in two situations where I had grand mal seizures about 13 weeks apart.

Michael Poole racing in the 2013 Rev3 Half Ironman in Branson, Missouri.
Michael Poole racing in the 2013 Rev3 Half Ironman in Branson, Missouri.

It was a difficult time, as my sport involves activities (swimming and cycling) that have risk attached, but I had good doctors and great advice that I’ve followed very closely. The medication I’m on appears to have worked well too.

Growing up in New Zealand, there is every opportunity to be active. I played a lot of soccer early, but also loved running races. At 13, I started cycling and then did a couple of triathlons and realized I had to learn to swim a lot better.

Through some great coaching and lots of hard work, by the time I had left high school in New Zealand, I had won national titles in triathlon, duathlon, multi-sport, cycling, cross-country running, and road running. I had also represented New Zealand internationally in both cycling and triathlon.

For those newly diagnosed, I think it’s important to get as much accurate information as you can from experts. Don’t panic. Follow advice really closely. Don’t put aside ambitions. Talk about things when you are ready.

Some of the most important things I’ve learned from being an athlete are that it’s really hard work on a daily basis, and you have to take things one day at a time. I’ve been able to travel to a range of countries—China, South Korea, Japan, New Caledonia, Australia, Costa Rica, and Barbados, and to 20 cities in the U.S.—you learn a lot about people and places.

Being disciplined around my risk factors is hard—sleep, diet, remembering to take meds. Being concerned about misunderstandings can be hard too. I have to declare my condition on race entries, but so far organizers have been really good and low-key. When we were first working through that, it was hard, as the restrictions placed on me the first six to 12 months after diagnosis were strict for driving, cycling, and swimming.

I’m a full-time chemical engineering student at the University of South Florida. I have high expectations and work very hard. To be a full-time student, full-time athlete living in a country I did not grow up in has real challenges.

For more articles like this, click here to subscribe to COMMUNITY magazine!

I race often. On January 19, I raced in a world-class field in Auckland over a half-iron man distance. I then have more races in New Zealand and one in Australia before heading back to the U.S. in mid-February.

I will then look to race approximately 20 times across the U.S. during the year. It’s always challenging, as many world-class athletes come to the U.S. to race, but lots of learning and development are available. Financially things are also tough—I pay full international fees, plus away-from-home living costs. Triathlon is an expensive sport in many ways—getting sponsorship is tough—and the major results do not come until your mid to late twenties. So a week-by-week challenge is finding enough financial backing just to keep moving forward as a student and an athlete.

What is most rewarding about being a triathlete are the challenges of continuous improvement and the overcoming of all the strategic life problems that go with the sport. It is a very difficult sport.

I offered my profile to the Epilepsy Foundation to assist in any way they saw fit, and their Athletes vs. Epilepsy initiative fits really well. If I can in some way encourage people with epilepsy to be out and be active, it can only be a good thing. People are very welcome to contact me through:

Posted in About Us, Diseases, Featured | Tagged , , , , , , , , , , , , , , | Leave a comment

We Can Be Heroes: Jake Dowell

Posted on by Charlie

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

The first thing that drew me to hockey was that my older brother wanted to play. It was a sport that didn’t come naturally to me, like baseball or football, and my dad wouldn’t let me quit. He wanted me to have to work through something and have the feeling of achievement once I did see progress.

What I enjoy most about hockey is the release that it gives me. I have dedicated most of my life to it and to get to the NHL. Having that chance to play in the best league in the world has been what makes it fun and always worth the tough times when it seems so much like just a job.

If I wasn’t playing hockey, I think I’d be a guidance counselor at a high school. I like to work with kids and think that I have the ability to relate and help kids that need a little direction in their life.

I first learned about Huntington’s disease when my dad was diagnosed when I was in high school. At the time, I was living with a host family in Ann Arbor, Michigan, while I was playing hockey, and my parents were in Wisconsin. So it made it a little more rough to handle news of that level and not be able to be around to help or understand completely what our family was in for at the time.

Hockey has always been a stress reliever for me and lets me get away from the family issues and personal issues off the ice. It has also been a way that my whole family has been able to have a little getaway from Huntington’s disease by coming to see me play or watching me play on TV.

Caregivers are the most important people in this whole thing. I admire my mom and what lengths that she has gone through and sacrificed of herself in order to make sure my dad was always the main priority and taken care of.

With that said, it has been extremely hard on her, and if I can give any advice, it would be to make sure you take some time for yourself to still have a life of your own with friends and family. It is so stressful on the caregiver, that if you don’t take time for yourself, your own health may start deteriorating.

I go and see my dad and brother as much as possible in the summers. I don’t see them during the hockey season much, and now they are at the point that neither can say much. My dad is completely dependent on people to help him move or do anything, so we really just sit there, and it’s pretty quiet, but I know he enjoys the company. And the same goes for my brother.

I have learned a lot from my dad and brother over the years, but they have been sick for so long that the main thing I take from them is that even though they were both handed an extremely difficult and miserable disease, they never complain, and they just deal with it.

My mom has taught me more than I can really put into words, but if I had to point out one thing, it is how to handle adversity and how to put others’ needs first. And if I could teach my mom one thing, it would be to learn to balance when to put her own needs first once in a while.

I met my wife when I was first out of college at the University of Wisconsin. I was starting my professional career, and she still had a couple years of school left. We were drawn to each other initially because we had mutual friends, and we really just over time started spending more and more time together. I found myself coming back to Wisconsin whenever I had a break, For more articles like this, click here to subscribe to COMMUNITY magazine!or she would come down to Rockford, Illinois, where I was playing at the time, and it just went from there.

I am happiest when I am with my wife, Carly, and our English bulldog, Gus, and with our friends and family. I have found myself really reaching out and having a number of extremely close friends that my wife and I spend a lot of time with, and sometimes that fills the void of not having my dad or brother around to spend time with. I have also gotten extremely close with Carly’s dad. He is someone I look up to and has filled a father figure void for me as well.

We plan on having children in the future—we just don’t know how distant in the future it will be. I need to get tested for Huntington’s disease before we try to have children, so that complicates things a bit.

Posted in About Us, Diseases, Featured | Tagged , , , , , , , , | Leave a comment

We Can Be Heroes: Sarah Winckless

Posted on by Charlie
Sarah Winckless and her Mother, Valerie
After winning the bronze at the 2004 Olympic Games in Athens, rower Sarah Winckless ran past security to place her medal around her mother’s neck and her laurel wreath atop her head.

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

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

Winckless’s mother now requires 24-hour care, but was able to watch Winckless receive her Helen Rollason Sportswoman of the Year Award for Inspiration in December. In a 2010 interview with Scotland’s Daily Record, Winckless said, “My Olympic effort was nothing compared to what my mum battles with every day of her life.”

Community spoke with Winckless about recent developments in Huntington’s research, the importance of positive thinking, and her plans for the future.

Sarah Winckless (right) with double sculls partner Elise Laverick
Sarah Winckless (right) with double sculls partner Elise Laverick

What I think is most important for those newly diagnosed with Huntington’s disease to know is that anything you’re feeling is normal. There’s no right or wrong way to deal with it.

For me, knowledge is power—to understand enough about the disease to know that there are some things you can control. We have a duty to take care of ourselves by exercising, eating, and sleeping well. Look for the bits you can control and enjoy controlling those areas.

Sport will always be something that lifts me and makes me feel better. I run, cycle, and row. I exercise about seven or eight hours a week. [If exercise can result in a delayed onset of Huntington’s disease] it gives me a great excuse.

My mother taught me things. She did really well. She has an absolutely brilliant spirit. She used humor, keeping it light, laughing at herself at times. I guess it’s called black humor.

Mum got diagnosed in 1996. I could clearly see that something wasn’t working. When I got the name ‘Huntington’s,’ it really helped me.

For me, testing positive didn’t feel any worse than being at risk. I wanted to get the test done as quickly as possible. It was a very simple decision for me.

For more articles like this, click here to subscribe to COMMUNITY magazine!Becoming a Huntington’s disease advocate was never intentional. I didn’t see myself doing that. Just before the 2004 Olympics, it felt like it was the right thing to do, to tell a positive story.

As patron of the Scottish Huntington’s Association, I do what I can for Scotland. It gives me huge strength as well, and I have the privilege of working with some amazing young people.

For me, climbing Mt. Kilimanjaro was a double-pronged motivation. It was a real opportunity to do something different, something special, while spending seven days with my brother and doing something for my charity.

I also wanted to see what my body would do at that altitude. At 4,700 feet, I was happy. Then, I got the worst headache I’ve ever had in my life. I redecorated Kilimanjaro by being sick, but my brother and I both made it to the top.

My dad and stepdad were rowers. I also did discus and played basketball at Cambridge. I started to row, and it was brilliant to already be a trained athlete trying a new sport. Gladiatorial side-by-side rowing is, I think, what I was born to do. It fit my physiology and my psychology.

When you do sport, you find yourself, in a deep, psychological way. You find out how to think positively. My thinking affects my feeling. I believe you can choose your mood, although some days are more difficult than others.

As a motivational speaker, I talk very much about setting your goals high. We’re all capable of more than we think we are. Get on the start line and have a go.

Where does courage come from? I think it’s really unique. Quite often, we need someone else to give us that first push. If you’re someone who finds it within yourself, tap into that. Be accepting that we’re all different.

In the past, the huntingtin protein has been seen as the enemy. Now we see it as the body’s defense. As understanding and the ability to study the gene gets greater, it’s an exciting time for science. I do a lot of work with the brain. I am always tempted to study more, but that’s not the path I’ve chosen.[Having studied chemistry at Cambridge] for me it’s been a really interesting dance with how much I look at research. I am incredibly excited at some of the developments in the last few years. The possibility of turning off the gene not long ago would have been considered a sci-fi type of thing, as would passing drugs through the blood-brain barrier.

I’m asymptomatic, touch wood, [but] I would absolutely participate in clinical trials. I’m in some of the studies. I’d love to be part of the solution in that way.

I’ve got hundreds of plans for the future. I’ve loved working in elite sports. I enjoy leadership, coaching to top business people and top junior athletes, helping others to be as good as they can be.

I’ll be the keynote speaker at the CHDI conference in Palm Springs in February. I’ll also be picking the brains of some of the scientists there. It’s always inspiring being around high performers.

In the HD community, I’m looking forward to the anniversary of SHA, the Scottish Huntington’s Association, which will be twenty-five years old on November 21. I’ll be doing summer camp for young people in July and a 40K run in March in Sweden for a young persons’ group there.

I’ve also just been given an allotment (a plot of ground given to citizens by the British government for planting), and I will be perfecting the art of vegetable growing. For someone who’s come from a competitive environment, the pace is probably a bit different.

Everyone has good days and bad days. Grab and enjoy the good days. Be good to yourself on the bad days.

Posted in About Us, Diseases, Featured | Tagged , , , , , , , , , , | Leave a comment

CVC One of Best Nonprofits to Work for 3rd Year in a Row

Posted on by CVCinfo

The NonProfit Times logoSeveral months ago Caring Voice Coalition participated in a survey rating the best nonprofits to work for. It is with pride and gratitude that we announce that CVC has ranked in the top 50 for the third year in a row.

This year CVC rose to #29 out of 50 overall organizations and #13 in the Small Organization category. Click here to see the results of the 2014 survey by The NonProfit Times.

Posted in About Us, Diseases, Featured | Tagged , , , , , , , , , , , , | Leave a comment

Growth Strategy

Posted on by Charlie

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

I first became symptomatic 25 years ago, when I was 50. Not many people knew about Alpha-1 then.

I started to have respiratory symptoms. I was a swimmer and a schoolteacher—I taught hyperactive kids. One day, I stopped at the Y and could only swim two or three laps. I couldn’t breathe. It scared the bejesus out of me. That really set me on the path to find out what was wrong with me.

Not too long after that, my son came to visit me. He flew in from Denver and, he, too, had respiratory symptoms. The doctor gave him an adrenalin inhaler and never said ‘Alpha-1,’ but told him to get tested.

After getting tested, my son said, “Oh Mom, I have some genetic disease. I don’t have to worry about it right now.”

When I told my doctor about my son’s diagnosis, he said, ‘My god, Marlene, you have Alpha-1!’ I was tested and put on therapy immediately.

I thought it was some freak disease. I did not talk about it for many years. Thursdays, after school, I had weekly Alpha-1 infusions. For 12 years, I didn’t tell anyone. I lived as an Alpha island. I only told a couple of my very best friends, and my son and my husband knew. I was afraid that I would be treated as a sick person and stigmatized.

I had a condo in Florida where I went in the winter when I could no longer teach. At 60, handling a classroom full of kids became too much. I took a sabbatical at about 62 and went on Social Security.

I was very symptomatic for the first year. While I was in Florida, I went to the University of Florida in Gainesville to a wonderful Alpha-1 doctor. He put me on a stronger dose of medication, and I bounced back like a ball. I’ve had a couple of pivotal points in my life where the right doctor did the right thing.

Dr. Friedrich Kueppers, who diagnosed the first Alpha patient in the U.S., contacted me, and we started a support group at Temple University. I had never met another Alpha until that day. I walked into the room and burst into tears. I was the leader of that group for probably 15 years. I’m still very much involved in it. Along the way, I’ve learned a lot.

Marlene Buchanan Quote

About ten years ago, I went to work as a patient advocate and mentor. Over the years, I have talked to literally hundreds of Alphas. My big thing is making a difference, and I feel like I have.

One of the most important things I’ve learned is that keeping a positive attitude is the best treatment. I’ve also learned to use the resources available to us and to share those resources with other Alpha patients.  Most of all, I have learned over and over again that it’s possible for any of us to make a difference in the lives of others. Alpha-1 is not a death sentence.

I went to Ireland three times to do research on my family’s Alpha-1 history. My mother’s family said, “You didn’t get this from us.”

I knew that my grandmother couldn’t breathe, and that one of her sisters had gone back to Ireland. People talked about her son being in a rest home there. He had bad allergies and couldn’t breathe.

Nobody in my parents’ generation presented with Alpha-1 on either side. None of the siblings had it. No one else had it other than my son and me. I have two grandsons who have been tested, and the younger one is a carrier, like his dad. That was very difficult for me. He’s eighteen years old now, and he has been healthy.

For more articles like this, click here to subscribe to COMMUNITY magazine!My husband and I live in greater Philadelphia in a life-care community run by Quakers. We’ve been there for two and a half years. It works beautifully for me. We have a lovely apartment, and I can manage life. I’ve only had one Alpha-1 exacerbation, and I’m healthy and fine.

I like to live with this disease creatively. It has not been my identity. I have moved forward in my life, and I’m very proud of that. I’ve never let it get me down. It’s not who I am.

How do I empower myself? I learn everything that I can about it. I share it with hundreds of Alpha patients. In serving so many, it has made me strong and given me more to offer other people. I do believe that making a difference and the many patients in the Alpha community have sustained me.

One of my mentoring patients, who has become a patient mentor herself and is doing a marvelous job, hadn’t told me what I meant in her life, that I had become a role model for her.

Then, she gave me a gorgeous sterling silver angel for my new Christmas tree and told me that I’m her Alpha angel. Bringing newly diagnosed Alpha-1 patients out of their confusion and depression—that’s what my life has been about for the past 25 years.

In my spare time, I still do water walking classes at the pool. I also like to participate in discussion groups. I’ve become very social as I’ve grown older. My other thing is shopping. I have the clothes now that I didn’t have as a kid growing up in Pittsburgh.

The whole center of my life has been meaningful relationships with people. I did enjoy skiing. Now I enjoy the snow and the birds. I’ve become quite a gardener and a bird watcher.

Marlene Buchanan and her garden at her Philadelphia home
Marlene Buchanan and her garden at her Philadelphia home.

I transformed a mud world in the yard of our previous home and landscaped it. I grew, and as I did, I planted more and more flowers and shrubs. I have a small garden that was on the garden tour last spring.

Now, I’m watching the birds feeding in the snow and feeling very grateful for what I have in life. I have planted significantly. It gives me so much pleasure to watch everything grow. I taught special education kids; language-disordered kids. I watched my students blossom and grow and operate in the real world.

What I’d like newly diagnosed Alpha-1 patients to know is that there are organizations like Caring Voice Coalition to help them. Life isn’t over because they’ve been diagnosed with Alpha-1.

I can almost see Alpha-1 as a gift in my life. Reading and learning about Alpha-1 and meeting patients is a joy I would not have had, had I not been an Alpha-1. We all belong to the same family. If a new patient can get that, they’re good to go.

Posted in About Us, Diseases, Featured | Tagged , , , , , | 2 Comments

High Notes

Posted on by Charlie

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

Chloe TemtchineWhen did you start singing and songwriting? Who and which styles are some of your biggest influences?

I started singing at about the age of six. My father used to take me to a Baptist church in Harlem, on Sundays, where I listened to gospel music for hours. That’s where it all began.

I’ve always had very eclectic taste in music: from artists like Edy Phenomene (French dancehall), to Smokie Norful and Kim Burrell (gospel), to Stevie Wonder and Sam Cooke (R&B/soul), to James Vincent McMorrow and Ray Lamontagne (singers/songwriters), to Eric Reed (jazz). The list could go on forever.

When and how were you first diagnosed with pulmonary hypertension? What were your initial symptoms?

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

Album Cover for Chloe Temtchine's 'Be Brave'
Chloe Temtchine’s “Be Brave” album cover

What is “Be Brave” about?

After being diagnosed, I found myself spending so much time trying not to die that I had forgotten to live. “Be Brave” is about making the choice to live.

Every time I went to the hospital, I came home feeling that there was very little hope. I realized that if I didn’t shift my consciousness quickly, my condition would continue to get worse.

I’m a big believer that our minds play a huge role in the state of our health. Keeping my mind in the right place is so important to me that I decided to write a song about it. I wanted to remind myself, and anyone else going through a similar experience, that any challenge had the potential to be an opportunity.

What inspires you in songwriting?

I’m much more comfortable expressing myself through song. Music captures the way I feel in a way that words without melody can’t seem to do.

For more articles like this, click here to subscribe to COMMUNITY magazine!What have you learned in dealing with pulmonary hypertension? What have been some of your biggest challenges, and how have you dealt with them?

Although I would do just about anything not to have pulmonary hypertension, I’ve understood through this process that there are many lessons I’m meant to be learning. I am very grateful for the perspective it has given me with regard to my life.

My biggest challenge was seeing a future when I was told that it was highly unlikely that I would have one. This continues to be my biggest challenge.

What do you think is most important for the newly diagnosed to know about pulmonary hypertension?

For the newly diagnosed, I would say: Surround yourself with positive people who instill hope in you, eat a very healthy diet (plant-based, if possible), go to pulmonary therapy, focus on other people’s success stories, and most importantly, believe that it is possible to get better no matter what you’ve been told.

How does being a singer, musician and songwriter help you deal with pulmonary hypertension?

I think that being inspired and passionate in general is helpful to anyone. I also think that it’s very important to express yourself in order to keep yourself in balance. Through music, I’m able to get out all of the things that I would otherwise potentially keep in.

What is next for you in terms of treatment for PH?

I’m not totally sure at the moment. Because there is a belief that I may have pulmonary veno-occlusive disease in addition to PH, my doctor is going very slowly with the medications, which I’m very grateful for. Lung transplantation has been suggested, and although I’m thankful that it exists as an option, my goal is to stay away from it, if at all possible.

What’s next for you in music?

My next goal in music is to finish writing the album I began when I got out of the critical care unit and to perform as much as possible.

What do you enjoy most about music?

I love that music has always had the ability to completely alter the way I feel. It has helped me be hopeful during very difficult times. I love the idea of creating something that could not only alter my own state, but that also has the potential to alter the state of someone else who may be in need of some state-altering!


Posted in About Us, Diseases, Featured, Uncategorized | Tagged , , , , , , , , , , | 3 Comments

CVC Close Up: Ken Jorgensen

Posted on by Charlie
Ken Jorgensen, CVC Application Developer
Ken Jorgensen, CVC Application Developer.

I’ve been with Caring Voice Coalition for about two years and in Virginia for about eight. I’m originally from Middletown, Connecticut.

I originally got into programming as a hobby. When I was young, I was into making things out of Constructs and Transformers with my cousin, and I was developing games in DOS systems as school projects. I’m still into pretty much everything I was as a kid. I’ve been programming ever since I was 15 and hope to continue in it.

I live with my fiancé, my sister, and her fiancé. I have a four-year-old son, Griffyn, who is also interested in tech. I have him playing
a game—Minecraft–it’s a 3-D world where you can build whatever you want. You can build worlds that have castles and dungeons, and you can set up switches and hubs to make electronics. He’s really into it—that, and Legos.

Of my family, I think I’m most like my dad. He’s an honest person, who’s upfront about things. He’s inquisitive and works in IT too. I remember when I was little, and he worked repairing things at RadioShack, going with him and taking things apart.

I got into IT because I wanted to make artificial intelligence. The first thing I made was
a Tic-Tac-Toe game you could play against a computer.

CVC has the best goals of any place I’ve worked. It’s a really nice place to be, and it’s filled with a lot of friendly people. It feels good to work here.

In my job, I don’t get the same connection that people in our contact center get talking with patients on the phone. I’m in front of the screen eight hours a day, but I feel good about what I do here.

For more articles like this, click here to subscribe to COMMUNITY magazine!My overall goal is to make the IT department as flexible as possible and meet staff needs as quickly as possible. Indirectly, I help patients by providing services that way.

I want to see my team succeed and to see CVC as an organization succeed and grow. I want to be a part of that.

In IT at CVC, we all have a hand in going out and talking to other departments, finding out what they want, and meeting those needs. We go out in teams to get multiple perspectives from different departments.

In my spare time, I like to program. I enjoy programming language—I’m passionate about programming computers. It’s fun for me, something I can get my head into, and thrive in. In programming, I can picture how everything relates. I admire Stephen Wolfram; he wrote a book about computational geometry—how simple patterns build into more complex systems.

I’m also into reading and thinking about artificial intelligence. I like odd, bad-sounding indie music. I have some math projects I’ve been working on for three or four years, and I like to draw too.

What I think is important for people to know about CVC is that there are no strings attached. When they’re diagnosed, I’m sure it’s world-shattering. People expect strings to be attached to the grants. They don’t expect them to be a gift.

Posted in About Us, Diseases, Featured | Leave a comment

In Your Words: Adrienne Altamirano

Posted on by Charlie

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

When we first had Noah, he seemed to always be crying, but it was not a typical newborn cry. He hardly slept. When he was about four months old, he started having these jerking movements. He didn’t do it very often. But the more it happened, the more he would cry. And I thought, ‘This is not right.’

Noah Altamirano
(Above) Noah Altamirano.

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

They said that Noah could possibly have tuberous sclerosis complex—a genetic disorder that causes benign tumors to grow in the brain and other organs. They wanted to do an EEG of his brain, and an ultrasound of his kidneys.

Noah Altamirano and his father, Gilberto
(Above) Noah and his father, Gilberto.

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

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

They put him on medication, and within a day his spasms stopped. He still cries a lot. Naptime is very precious. I try to comfort him, and often that doesn’t work. Sometimes he just has to work it out and cry until he falls asleep.

He has SEGA tumors in a very dangerous position in his brain near his nerve endings.
SEGA tumors are not cancerous or malignant, but can still cause problems. We’re keeping an eye on those. He also has tumors in his kidneys. We’re working on that with the renal doctors. He is beginning to show early signs of autism.

Adrienne and Noah Altamirano
(Above) Adrienne and Noah Altamirano.

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

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

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


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

We have good days and bad days.

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

He’s my baby. To hear him scream and cry is very difficult. I cry when he cries. But I never let go of my faith that we’re going to get through this.

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

Noah loves to be outside, on the beach and the pier, to go for walks in his stroller, to look up at the sky, and go on the swings in the park. He loves Disneyland—the fireworks, the rides, and the characters. By the end of the night, he’s exhausted.

Aaron, Noah, and Moises Altamirano
(From left to right) Aaron, Noah, and Moises Altamirano.

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

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

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

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

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

Noah Altamirano
(Above) Noah Altamirano.

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

Fortunately, there are military programs for family members with disabilities. Someone will be coming once a week to help him meet certain milestones. He will have a physical therapist, an occupational therapist, and a behavioral therapist, and he’ll attend a special school.


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

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

Adrienne Altamirano and her sons

(Above) Adrienne and her sons Moises, Noah, and Aaron.

If you have a story that you’d like to share with CVC, email us at Your words can give support to others and let them know that they’re not alone.


Citizens United for Research in Epilepsy
430 W. Erie, Suite 210
Chicago, IL 60654
Toll-free: 800-765-7118

The Child Neurology Foundation
201 Chicago Avenue, #200
Minneapolis, MN 55415
Toll-free: 877-263-5430

The Tuberous Sclerosis Alliance
801 Roeder Road, Suite 750
Silver Spring, MD 20910
Toll-free: 800-255-6972

Posted in About Us, Diseases, Featured, Uncategorized | Tagged , , , , , , , , , , , , , , , , , , | Leave a comment

Download CVC Desktop Wallpaper Images

Posted on by Charlie

Below you’ll find desktop wallpaper images to download and install on your computer. We hope you share these custom graphics with your friends and family. They’re free, and you can download as many of the graphics as you would like.

Click here to get instructions for changing your desktop image on Mac.
Click here to get instructions for changing your desktop image on Windows.

Click here to download the Caring Voice Coalition, Inc. desktop wallpaper.
Click here to download the Alpha-1 Antitrypsin Deficiency desktop wallpaper.
Click here to download the Chronic Granulomatous Disease (CGD) desktop wallpaper.
Click here to download the Complex Partial Seizures (CPS) desktop wallpaper.
Click here to download the Factor XIII Deficiency (FXIII) desktop wallpaper.
Click here to download the Huntington’s Disease (HD) desktop wallpaper.
Click here to download the Infantile Spasms (IS) desktop wallpaper.
Click here to download the Narcolepsy desktop wallpaper.
Click here to download the Pulmonary Hypertension (PH) desktop wallpaper.

Click here to download the Horace Words of Encouragement desktop wallpaper.
Click here to download the Mandela Words of Encouragement desktop wallpaper.
Click here to download the McCullers Words of Encouragement desktop wallpaper.
Click here to download the Wharton Words of Encouragement desktop wallpaper.
Click here to download the Cather Words of Encouragement desktop wallpaper.
Click here to download the Yoganada Words of Encouragement desktop wallpaper.
Click here to download the Milne Words of Encouragement desktop wallpaper.


Posted in About Us, Diseases, Featured | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | Leave a comment

Shop at AmazonSmile & Amazon Donates to CVC

Posted on by CVCinfo

Now, when you shop on AmazonSmile, you can donate 0.5% of the price of your eligible purchases to benefit the programs of Caring Voice Coalition. Caring Voice Coalition is dedicated to improving the lives of patients with chronic and rare diseases by offering services that provide financial, emotional and educational support.

AmazonSmile is a website operated by Amazon that lets customers enjoy the same selection of products, prices and shopping features as on But when customers shop on AmazonSmile (, the AmazonSmile Foundation will donate 0.5% of the price of eligible purchases to the charitable organizations selected by customers.

To select Caring Voice Coalition as your AmazonSmile charitable organization, go to

Shop on AmazonSmile and the AmazonSmile Foundation will donate 0.5% of the price of eligible purchases to CVC.

Shop on AmazonSmile and the AmazonSmile Foundation will donate 0.5% of the price of eligible purchases to CVC.

Posted in About Us, Diseases, Featured | Tagged , , , , , , , , , | Leave a comment

Newsmaker Q&A with Karen Anderson, M.D.

Posted on by CVCinfo

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

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

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

Our center at Georgetown is the first of its kind in the Washington, D.C. metro area. In addition to our monthly clinic at Medstar Georgetown University Hospital, we also have a satellite clinic in Olney, Maryland and have plans to expand to McLean, Virginia in early 2014. This gives patients closer, more accessible care.

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

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

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

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

They can start by reaching out to their area’s HDSA social worker. The HDSA website keeps a list of community physicians online that have been known to see people with HD. Both the list of social workers and doctors are available at

If there is no one near them, then the best recommendation is to find a physician in the community that is willing and able to take the time to work with the patient. HDSA published “A Physician’s Guide to the Management of Huntington’s Disease” meant to assist in these situations. This book is available free. It is in PDF form online at, or the National HDSA office can be contacted to send a copy. HDSA social workers, or a social worker from an HD Center are also available to help provide education and services to help with the care.

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

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

Being tested for Huntington’s disease is a very personal decision. Individuals will choose to get tested for a variety of reasons, from family planning, to planning for the future, to confirming that symptoms are in fact HD.

A physician may recommend testing to confirm symptoms, especially when someone has no known family history of HD, or they have a family history, but no one is their family has ever had confirmatory testing.

What does the test for Huntington’s disease involve?

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

It is important for the person choosing to be tested to be well informed by the care team about HD and have time to process their decision before ultimately being tested. Once someone receives genetic test results, the information cannot be taken back.

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

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

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

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

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

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

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

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

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

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

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

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

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

We are a member of the Huntington Study Group (HSG) and are currently a site for their FIRST-HD trial. We hope to begin enrolling people in this study very soon. We also are an Enroll HD site, a longitudinal, worldwide observational study, and hope to being enrolling patients in this study soon too.

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

How did your interest in Huntington’s disease develop?

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

Because the symptoms are so diverse and severe, clinicians can make a positive difference for these families, who are often told there is nothing that can be done for them. This is completely untrue; there is so much that can be done to manage the symptoms and support the families.

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

MedStar Georgetown University Medical
Center Huntington’s Disease Care, Education
and Research Center (HDCERC)
3800 Reservoir Road, N.W.
Pasquerilla Healthcare Center (PHC)
Washington, D.C. 20007

Appointment line: 202-444-0816


Posted in Diseases, Featured | Tagged , , , , , , , , , , , , , , , , , , | Leave a comment

Family Medicine

Posted on by CVCinfo

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

The Immortal Life of Henrietta LacksSince the 1990 initiation of the Human Genome Project to map the human genome, and its completion in 2003, the pace of genetic research has steadily accelerated. Most diseases have a genetic component, but, according to the CDC, “researchers have identified only a small fraction of the genetic component of most diseases.”

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

Lacks died in 1951 at the age of 31, and in the six decades since, her tumor cells—which are “immortal,” and unusual in that, unlike most cells, they keep growing and multiplying in lab culture—have been used to establish the HeLa (for Henrietta Lacks) cell line. The HeLa cell line has helped researchers study and develop treatments for diseases including polio, cancer, hemophilia, AIDS, Parkinson’s disease, and leukemia, It’s estimated that more than 50 million metric tons of HeLa cells have been grown for use in invaluable lifesaving medical research worldwide since Lacks’ death.

HeLa cells. Photos: NIH

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

Dr. Kevin Strauss (right) and Dr. Holmes Morton (center) of the Clinic for Special Children, and a young Menonnite patient (left) at a Shippensburg, Pennsylvania benefit auction for the clinic. Photo: Matthew Sware

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

Lacks’ story has generated so much interest that Oprah Winfrey plans to produce an HBO screenplay adaptation of the book. Beyond Hollywood, this prompts the question: How do genetics affect patients and families living with chronic and rare diseases?

Personal Power

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

Their children’s diagnosis led Terry and her husband Patrick to found the research advocacy organization, PXE International, eventually resulting in the discovery of the gene associated with PXE. Terry recalled, “My husband and I felt that if we didn’t do something, nothing would be done.”

Terry believes that genetic research will have a profound impact on health care over the next decades. “We will have a much better understanding of disease,” she said. “We’re also going to be able to understand what role environment plays.”

“We all have some things in our genome that are not perfect. We believe that the individual needs to be empowered. We offer tools to help them deal with it,” Terry said, and tools to answer the question, “‘How do I get involved in research?’”

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

Family History

When Venezuelan physician Americo Negrette arrived in San Luis, Venezuela in 1952 to begin his rural internship, he observed the uncontrolled movements and unsteady gait of many of the residents of several insolated, impoverished villages along the shores of Venezuela’s Lake Maracaibo. Negrette initially thought they were intoxicated. Locals called the condition “el mal de San Vito” (the sickness of St. Vitus).

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

In 1968, psychoanalyst Milton Wexler founded the Hereditary Disease Foundation when his wife, Leonore, was diagnosed with Huntington’s disease. Four years later, Negrette’s colleague, Ramon Avila-Giron, presented a film about one of the Venezuelan HD villages to attendees of a Huntington’s disease symposium. The audience was astounded, having never before seen such a large concentration of Huntington’s patients. Leonore and Milton Wexler’s daughter, Nancy, was in the audience.

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

The Clinic for Special Children, Strasburg, Pennsylvania. Dr. Holmes Morton speaking at a Mifflinburg, Pennsylvania benefit auction for the Clinic for Special Children. Photo by Matthew Sware Over the course of the next decades, Wexler and her team studied more than 18,000 residents of the area, mapping their vast family tree, and collecting more than 4,000 blood samples. They ultimately traced the gene’s origins in the region to one common ancestor, Maria Concepción Soto, who died from Huntington’s disease in 1880, and who might have inherited the HD gene from a European sailor who was her father.

(Above) The Clinic for Special Children, Strasburg, Pennsylvania. (Below) Dr. Holmes Morton speaking at a Mifflinburg, Pennsylvania benefit auction for the Clinic for Special Children. Photos by Matthew Sware

Dr. Holmes Morton speaking at a Mifflinburg, Pennsylvania benefit auction for the Clinic for Special Children. Photo by Matthew Sware

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

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

Modern Family

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

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

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

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

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

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

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

We’re supported by, and here to serve, uninsured Amish and Mennonite patients. We’re trying to find the most robust, affordable and rapid technologies for our populations.

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

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

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

Father and child, Shippensburg, Pennsylvania benefit auction for the Clinic for Special Children. Photo: Matthew Sware, the Clinic for Special Children

(Left) Father and child, Shippensburg, Pennsylvania benefit auction for the Clinic for Special Children. Photo: Matthew Sware, the Clinic for Special Children

Approximately 100 couples are the sole genetic stock for the approximately 30,000 Amish in Lancaster County, Pennsylvania. They’re small gene pools for large populations. There is a higher incidence of some diseases within these populations, because carrier status gets carried on.

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

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

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

What I find most striking about the clinic is that it’s a model for traditional old-fashioned medicine, caring for the individual on a local, low-cost basis, during the most astonishing revolution in human biology. At no other time in modern medicine have we had this opportunity to determine a person’s health risk before they develop symptoms. All of that progress can be leveraged to benefit the patient. The communities we serve are providing us with lessons about how we can choose to use technology, and how our values guide our science.

Genetic Counseling

The CDC reports that, “genetic tests have been developed for more than 2,200 diseases, of which 2,000 are currently available for use in clinical settings.” Community spoke with Rebecca J. Nagy, President of the National Society of Genetic Counselors about the importance of genetic counseling for those undergoing genetic testing.

What are the different types of genetic counseling?

Genetic counselors care for patients and families with a variety of conditions that cover the entire lifespan. Prenatal genetic counselors work with individuals who have concerns around a pregnancy that may be at increased risk based on family history, exposures or the mother’s age.

Pediatric genetic counselors work closely with physicians and see infants and children who may have a genetic condition. The physician works to obtain the correct diagnosis, and the genetic counselor is there to help the family understand what this diagnosis means for the child and the family, for future pregnancies and other family members.

Some genetic counselors work in the adult setting, seeing patients who have concerns about a family history of heart disease, cancer or other adult onset conditions. All of these clinical genetic counselors (prenatal, pediatric and adult) provide support and resources to the family while they are coping with and adjusting to their diagnosis.

Finally, there are many genetic counselors who work outside of the clinical setting. Some work in laboratories and serve as a conduit between the lab and physicians, helping them understand what specific test results might mean. Many genetic counselors are involved in research, public health or administration.

Rebecca Nagy

(Above) Rebecca J. Nagy, President, the
National Society of Genetic Counselors

When should genetic testing for rare and chronic diseases be accompanied by genetic counseling, and why?

Learning that you or your child has a genetic condition can be difficult and emotional. It may also have implications for other family members.

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

If genetic testing is ordered, genetic counselors can help the individual/family understand what the results mean for them and their family, and they can work together with the physician to make sure proper medical management recommendations and/or treatment plans are put in place.

Genetic counselors can also provide the family with support and resources to help them cope with the diagnosis, if necessary. For example, genetic counselors can help the family identify other families who have a child or family member with the same diagnosis and can identify advocacy and support groups that can provide ongoing information and support.

They can also coordinate referrals to other specialists and can be an ongoing resource if new developments are made in the field. Many of my patients will check back in with me each year to see if there is anything new that they should know about their diagnosis or the treatment for their condition.

What should patients, families, and caregivers look for when selecting a genetic counselor?

You can find a genetic counselor in your area by going to and clicking on the Find a Counselor tool. This provides a listing of board certified/board eligible genetic counselors.

Board eligible counselors have completed training at an accredited genetic counseling training program and are eligible to sit for their certification exam, which is offered twice a year. Board certified genetic counselors have also graduated from an accredited program and have passed this certification exam.

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

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

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

Blood samples at the Clinic for Special Children. Photo: Matthew Sware

(Above) Blood samples at the Clinic for Special Children. Photo: Matthew Sware

Many times, genetic counselors will provide patients with a family letter that explains what testing has been done, what it might mean for family members and how to find genetics professionals in their area. This is an easy way to communicate with family members and it takes the burden off of the patient to have to contact everyone by phone and have what may be a difficult or awkward conversation.

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

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

I see this trend continuing and expanding out into other areas. Given new testing technologies such as whole exome and whole genome sequencing, genetic tests are so much more complex, which makes the interpretation of test results more difficult. It will be critical for individuals and their families to have access to genetics professionals who can interpret this complex information for them.

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

Genetic Medicine Resources

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

GARD has information on:

The Genetic and Rare Diseases Information Center (GARD)
P.O. Box 8126
Gaithersburg, MD 20898-8126
Toll-free: 1-888-205-3223

Genetic Alliance
This nonprofit health advocacy organization is committed to transforming health through genetics and promoting an environment of openness. Genetic Alliance’s website provides information about health and genetics. Genetic Alliance offers “Does It Run in the Family?” a free online booklet that families and communities can download at and customize to use in collecting family health history.

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

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

Posted in About Us, Diseases, Featured | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | Leave a comment

Night Vision

Posted on by CVCinfo

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

Harriet Tubman. Photo: Library of CongressAraminta Ross, who later become known as Harriet Tubman, “the Conductor of the Underground Railroad,” “General Tubman,” and “Moses,” was born to Benjamin Ross and Harriet Green, one of nine children, sometime between 1820 and 1824 in Dorchester County, Maryland, on the plantation of Anthony Thompson.

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

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

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

Freedmen laborers at Quartermaster’s Wharf, Alexandria, Virginia. African-American dockworkers and mariners taught Harriet Tubman to follow the North Star to freedom.

(Above) Freedmen laborers at Quartermaster’s Wharf, Alexandria, Virginia. African-American dockworkers and mariners taught Harriet Tubman to follow the North Star to freedom. Photo: Mathew Brady, U.S. National Archives and Records Administration (Below, right) A two-pound counterweight of the type that fractured Tubman’s skull, causing her life-long disability. Photo: Eva Leonard

Harriet Tubman Sites Bucktown Village StoreThe Harriet Tubman Museum and Educational CenterHarriet Tubman Sites Home for the AgedHarriet Tubman Sites The Harriet Tubman Underground Railroad National Monument
At the local general store, she had encountered an unidentified young male slave, there without permission. An overseer ordered Tubman to restrain the young man, and hurled a two-pound counterweight at him. Instead, after he darted out of the store, Tubman blocked the doorway. The weight hit Tubman in the head, fracturing her skull and nearly killing her.

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

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

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

Initially, Tubman’s injuries made it difficult for her to work and lowered her value as a slave, and she was returned to Brodess. But she grew stronger as she recovered and worked digging out stumps, plowing fields, chopping wood, and hauling timber.

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

Harriet Tubman Sites Johnson HouseHarriet Tubman Sites Poplar Neck, MarylandHarriet Tubman Sites Hunting Creek

She traveled the approximately 90 miles to Philadelphia on foot, at night, following the North Star, which she had learned of from the African-American dockworkers and mariners she befriended as she loaded and unloaded produce at the wharves. The mariners served as a vital link in the Underground Railroad’s communication network, delivering coded messages and providing information about the outside world for those seeking freedom.

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

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

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

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

During an estimated 13 trips, over the course of a decade, Tubman brought at least 70 slaves, including many family members, to freedom, never losing a passenger. Following the passage of the Fugitive Slave Act of 1850, it was no longer safe to end the journey in the northern states, so Tubman began to bring her passengers to Saint Catharines, Ontario, Canada, where she moved in 1851.

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

“The midnight sky and the silent stars have been the witnesses of your devotion to freedom and of your heroism.” —Frederick Douglass

Tubman led her escapes at night, following the North Star, using a variety of strategies to evade detection and capture. On one trip she disguised herself as a man, and on another, she carried chickens to make it look as though she were running errands. She sometimes wore a silk dress to appear a free, middle-class woman, and she often led Saturday night departures because “Wanted” posters could not be printed until Monday mornings, giving her a one-day head start.

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

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

Photo: Harriet Tubman by Squyer, National Portrait GalleryIn 1859, Tubman moved to Auburn, New York, purchasing a house from her friend, Senator William H. Seward, and bringing her parents with her. She would also open her home to other relatives, as well as friends and former slaves.

After the Civil War began in 1861, Tubman worked with the Union Army in South Carolina, Virginia, and Florida as a scout, spy, leader, and nurse. Known for her abilities as a healer and a caregiver, Tubman brought ill soldiers back to health, using herbal treatments she knew from growing up in the Maryland countryside, and drugs she had learned about from Edward Brodess’s stepbrother, a doctor who ran a pharmacy. To heal soldiers who were sick, and in some cases, dying, from dysentery, she treated them with a tea she brewed using herbs and roots with medicinal properties.

Disguising herself as a sick, elderly woman, she performed reconnaissance for the Union army in Confederate towns. In 1863 Tubman scouted and planned for the Raid at Combahee Ferry, commanded by Colonel James Montgomery, and led 300 black soldiers during the raid, which freed more than 700 slaves in South Carolina. Tubman also recruited volunteers for John Brown’s raid on Harpers Ferry, West Virginia, but was unable to join the raid.

In 1869, Tubman married Union Army veteran Nelson Davis, whom she had met in Auburn. Despite her own accomplishments, Tubman was for many years denied her own military pension, although she received one as Davis’ widow after he died. She finally was granted one for her own service in 1899.

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

In 1908, Tubman founded the Harriet Tubman Home for the Aged in Auburn, New York. Her friend and neighbor Helen Tatlock said that at her home, Tubman took care of “the demented, the epileptic, the blind, the paralyzed, [and] the consumptive.” When Tubman herself grew frail, she would be cared for in the home she had established.

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

Posted in About Us, Diseases, Featured | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | 8 Comments ← Previous post Next post →