Week in Review: 4/11-4/15

I spent the better part of the week in Washington, DC with a full agenda. On Monday, I met with Peter Saltonstall (president of NORD). One of NORD’s major interests is the FDA. You are probably familiar with our advocacy agenda, this year concentrating on several areas relevant to clinical trials – one very specifically directed toward FDA. One of our requests focused on securing additional resources for the FDA, specifically more expertise and experience on rare disease (Duchenne), communication, and collaboration with the orphan products division and efforts to harmonize interaction between EMEA (European regulatory agencies) and FDA. NORD is focused on the same issues and when voices join together with specific messages, things happen. Anne Pariser, MD is now the Associate Director of Rare Disease, a new position with FDA.

On Monday evening, I served on a NORD panel to discuss barriers facing therapies for rare diseases. I spent some time discussing barriers such as risk benefit (such as asking for definitions of risk when the condition is fatal) and discussing TIME (how minutes matter when, in progressive conditions, each minute represents cell degeneration and death). Time. Loss of function. Lost time with someone you love. And steady state. How many times have we all prayed, that Duchenne stops now. Today. Steady state, no further degeneration.

On Tuesday I met with Anne Pariser. Anne has worked for the FDA for over 10 years, working in the area of inborn errors of metabolism. She is wonderful and anxious to accelerate therapies for rare disease. We discussed exon skipping and meetings planned for Fall. And I took a left turn in the conversation. You may already be aware, NIH (NINDS/John Porter/Berch Griggs/Katie Bushby-Treat NMD) have been awarded a
grant for a multi-site steroid trial. The trial will have several arms, evaluating an intermittent regimen with daily
Deflazacort and daily Prednisone. Makes no sense to me unless, at the end of the day, should the data suggest Deflazacort has less side effects (weight gain/behavior) it would be available (and covered by insurance) for families in the US. Anne said she had no knowledge of the trial. Now she does. And John Porter is connected to Dr. Pariser. And those planning the trial are connected to Dr. Pariser and to Elizabeth McNeil (orphan products). One of the goals of this study will be to (FINALLY) have Deflazacort available and approved in the US and hopefully elsewhere. Families deserve choices…and trials must consider access to whatever they are testing. Families already have significant financial burden in Duchenne. ALL therapies must be available and ALL boys must have access without additional expense.

Wednesday and Thursday I was in closed meetings with the Institute of Medicine (IOM). Our task is to produce a report (Fall, 2010) on “Accelerating Rare Disease Research and Orphan Product Development.” The report will include discussions and recommendations on discovery, drug development, FDA, the Clinical trial process, insurance, Medicare/Medicaid and devices. You might be aware of Senator Spector’s CAN legislation – $500 million for rare disease. Cross fingers and pray this legislation becomes law.

Progress!

Albania

During the Connect Conference last year, I was invited to speak in Albania. It is hard to say no to invitations during the Conference because the need is so clear and the impact of information so evident. So, I said yes…knowing it would be sometime in the future and maybe, depending on the circumstances, might not happen. In January, Mira contacted me reminding me of our conversation and the scheduled date, March 27. In January, the end of March seemed far away.

I met Mira some years ago. This is a story we all know well. While Mira is a neurologist, she does not see individuals with Duchenne, rather only one, her friend’s son. He was diagnosed at six. No intervention recommended. None. Therapeutic nihilism.

He started steroids at the age of 18. Mira attended our conference in Philadelphia, coming back year after year. She delivered information and advice to the family, and this young man’s quality of life improved. She learned how to buy time. At 24 years old, his echocardiogram is stable. He is on steroids, ace inihibitors, beta blockers, supplements, swims three times/week, works for his father, and enjoys spending time with his friends. For this one young man, life is good.

On March 26, I arrived in Albania. The airport was small and as I watched the luggage arrive in baggage claim, I had the sinking feeling that mine had not made the connection from Rome. With only one flight/day from Rome to Tirana, there was no chance of clean clothes anytime soon. I had been traveling for 20 hours or so and looked it! Wrinkled clothes, bad hair, and no makeup! I was scheduled to speak early Saturday AM during the Albanian Neurology Conference. Thanks to Mira’s influence, this year was focused on Duchenne. Several Coke Zero’s (could not find a Diet Coke anywhere!) later and life improved.

Mira and I went out for lunch and a short history lesson about Albania. The communists were defeated just 20 years ago. The communists’ occupation included confiscating homes, tearing down churches, persecuting religious beliefs, taking away freedom, and crushing dreams. Medical care remains under government control. Patients are able to see their doctors, but there is little access to medicines. Rare disease... well, better not to have a rare disease in Albania.

A pause. The country of Albania is beautiful. Flying in, the 60,000 ft. view is lovely. Tirana is surrounded by mountains and bordered on the West and South by the Sea. On the ground, the people are warm, friendly, and kind. But I did see something else and maybe it was best characterized by the lovely young woman that interviewed me. We talked about Duchenne and about Albania. She said, "We try but dreams of change feel impossible, a mountain too difficult to climb."

The meetings started at 8:30AM and most of the talks were in Albanian. Doctors from around the country attended the meeting as well as neighboring countries such as Kosovo. The neurologist who cares for individuals with Duchenne spoke just before me. A kind, young doctor was sitting next to me, translating phrases, though as I stared at the slides, I understood. I closed my eyes and was back in 1984. The slides on the diagnostic workup hit a nerve –clinical presentation, EMG…. EMG! It was 1984, Children’s Hospital Cincinnati. I was standing next to my beautiful son Patrick. He was 4, with his blue eyes open wide and tears falling, “Mom, make them stop” and a frustrated technician telling him to grow up. EMG means sticking needles in a nerve to measure conduction. It was horrifying then and now. In 1984, EMG was done on Duchenne. I’ll never understand why or how EMG was included in the diagnostic workup and I screamed at the tech and later the neurologist. I did not understand the rationale then and certainly not now.

But today, at this meeting in Albania, EMG was included on the slide. I thought I was tired, misread the slide. The neurologist then described their genetic testing capability, that approximately 60% of the mutations were identified. What about the rest? Recommendations for steroid use are limited to an intermittent regime. There is no registry in Albania, no access to sequencing, no thought of clinical trials. One neurologist commented “you are the first parent I have ever met.” I’m certain he meant that I was the first parent ever to speak to physicians. My talk focused around “who’s actually in charge… the doctor who sees the patient for a short time, say 2 hours/year or the patient/family who spend around 8700 hours together each year?...” As part of the Q&A, I was asked about care in the US and answered step by step: no EMG, clinical diagnosis, genetic testing (full sequencing), steroids – and on and on and on.

This was my first trip to the region and while I recall hearing sound bites of information about communist oppression in the Balkans, I did not realize the real impact. While I cannot walk in their shoes, I learned from being there, from the stories. The communist presence is still felt. The Albanian people are rebuilding, but slowly. They lack educational opportunities and infrastructure. There are remnants of communism in healthcare, doctors who deliver the ‘no hope and no help’ messages. There are remnants of communism throughout the country, in buildings and in empty spaces, where homes, churches, and businesses used to exist. There are remnants of communism in the mentality of the people, perhaps reluctant to dream that things might be different. And there are pockets of strikingly beautiful areas everywhere, storybook places, where new dreams are planted.

And, as Duchenne connects all of us, together we will fertilize and help to nourish those young plants so that boys in Albania will have opportunities and dreams.