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November 29, 2005
Count on Your Son Growing Up
“Count on your son growing up." Funny how those words are not often said when families visit clinics. We naturally dwell on topics of progression and secondary conditions, in a certain way waiting for the ‘next shoe to drop.' Your child is diagnosed and the news penetrates your heart and mind. You search everywhere looking for information, often reading the same definition over and over, thinking surely someone has it wrong. There must be a treatment out there, some obscure place that has some new technique or medication. You wonder how this beautiful child can actually have this insidious disease at work on his muscles. Over time, the words sink in and somewhere there is not acceptance, but some reality. Just as the stairs become difficult, you find stares feel like thorns in your heart. You second guess every word from physicians, health care professionals, friends, family. You do your best to concentrate on some distant time when you think a certain strategy or treatment will be available and hold your breath thinking that day will be better, that day you will smile again. I still do it. I still worry incessantly about my daughters, now all grown up. I worry when they have a cold, when they sound tired, when they sound unhappy. I worry about terror threats and think I should move to NY or Philadelphia or they should move home. I realize it is part of being a parent, but I think it quickly gets out of proportion because each day we face Duchenne. I think we have to fix this in our heads. We need to allow our children to grow and reach for their own dreams. Your son will grow up. Together we will change what happens to his muscles.
Posted by ppmd at 02:12 PM | Comments (0)
November 22, 2005
Thanksgiving
It’s nearly Thanksgiving and my mother always reminds me how lucky (?) we are, how thankful we should be. Rolling my eyes and walking out of the room just do not work with my 89-year-old mother and anyway, on this day of celebration, who wants to listen to me say how holidays will always be difficult and how the world seems to stop while Duchenne continues on and on for so many boys? I’m not thankful for Duchenne. I wish I had never heard the words, never had to understand anything about muscle proteins, about muscle degeneration or fibrosis and how that manifests in children, my own children. I preferred to live my life believing that genetic diagnosis happened to others, never ever to my family. My parents used to say we came from “good stock”, meaning our ancestors were healthy – they were ‘long livers’ my grandfather used to say. Early on, I took those words to assume good health was assured.
I wish Duchenne was not in my life, wish that I could have had the life I had planned long ago but at the moment, I cannot honestly remember what I had envisioned. Often I divide my life into BC (before the catastrophe) and AD (after the diagnosis) having little memory about those early (BC) years. But strangely enough there are a lot of things I am thankful for. Duchenne made me become a different person, it leveled my life, made me more aware of others, more compassionate, more tolerant, hopefully more tender. It opened doors to issues I had never considered and how they affect families. It made me realize our complexity as human beings and emphasized our need for each other and our need to work together. It offered me the opportunity to meet some of the best, brightest and most compassionate people in the world – researchers, physicians, health care professionals, Senators, congressmen, experts of all sorts, families, individuals diagnosed with Duchenne/Becker and friends. It opened a new world and in that world, I found a great deal of comfort. It helped me sort out who I could count on, lean on and cry with. It opened my eyes and made me re-evaluate everything in my life and cleared my vision about what is really important. Chris once wrote “the meaning of life is a life of meaning” and he was right. This new life has given me the chance to see positive change, how a small group of individuals can change the world and convinced me that Duchenne can and will have treatments.
I’m not thankful for Duchenne. I want it controlled, treated, fixed, but there is some good if you look down deep.
Happy Thanksgiving.
Posted by ppmd at 04:17 PM | Comments (0)
November 17, 2005
Fragmentation in the Duchenne community
When my boys were diagnosed, my life hit a wall. I did not know where to turn or who I could turn to. For the first time in my life, I knew what it was to feel alone. People were around of course, but the reality of Duchenne was simply unknown to my family and my friends. Often I would hear words like ‘you will get used to this’ or ‘something good will happen’, but I was alone in a very strange new world and trying to navigate, to carve out a path that would lead to something. Like most of you, I jumped right into fundraising because it seemed reasonable that spending money on research was exactly what was needed. I was ‘out there’ speaking with researchers about what they were doing and how what they were doing would translate, someday, somehow into a treatment for my sons. Researchers, enthusiastic about their particular approach, were (and are) excellent at describing various approaches and it was very exciting to imagine that within in a short period of time, Chris and Patrick would have a treatment. Duchenne would be history…at least out of our lives.
What I have learned is far different. I have learned that vulnerability accompanies catastrophic diagnosis, that every one touched by Duchenne narrows their eyes, wishing to believe that a certain strategy will be ‘it’, the single factor that changes the course of Duchenne forever.
I learned that researchers are brilliant, do stunning work and are the reason we have strategies for consideration. They know all the ins and outs of a particular strategy and produce compelling data in animal models. All this is essential for moving forward but it is not the end of the story. What works wonderfully well in the lab is not a direct translation for what happens in people and there are millions of miles between the mdx mouse and clinical trials. Scientists know science; they have little experience with developing clinical protocols or regulatory issues.
We ‘sell’ ourselves on a certain issue and somewhere deep in our head, we begin to count on this treatment in a specific period of time. I remember thinking, Chris is 8 years old. By the time he is 9, this will happen and by the time he is 11, a treatment will be available. I think I set myself (and Chris) up for failure.
I worry the Duchenne community is doing the same. As individuals we set our hearts on a certain individual, lab, approach. We raise money, sending hundreds of thousands of dollars in support. At the end of the day, hundreds of thousands are simply not enough to develop a treatment. I spoke with Stuart Peltz (PTC Therapeutics) asking about the development of PTC124. What did it take to bring this forward? His response was $30 million to get to the Phase I clinical trial.
It is for this reason, PPMD is interested in developing funding models – consortiums or alternative entities where any family, corporation, friend, organization would be welcome to actively participate, follow a well-crafted, milestone-driven business plan. A model with sufficient levels of support where researchers concentrating on a specific approach could apply for funding and/or where leaders of the consortium could actively solicit certain work on behalf of the consortium (or entity) to adequately cover gaps in research. At the end of the day, my approach is to ‘look under every rock’ and to make sure the research (looking, investigating, examining), translation (transfer from research into clinical protocol) and trial (clinical trials – proof of principle) is adequately and fully funded. I could not look into my boys’ eyes and say, “we ran out of money”.
Posted by ppmd at 02:19 PM | Comments (3)