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July 20, 2005
The Week After - Part 1
For us, the Annual Conference is a highlight. The best part is connecting with the DMD community. It is pretty obvious to us, that this community is strong, effective, bright and committed.
Of course, the days and weeks leading up to the conference are hectic and then it’s here! The days and nights fly by so quickly that we find it difficult to stop and take a good look at where we are today.
I thought about how different things are after 12 years of DMD conferences. Our first conference was held in Canada with 20 parents and about nine researchers. Parents sat in the back, researchers sat in the front. No questions were taken from the parents by design. The discussion was centered on research and was limited to researchers.
To this day, I remember one of the comments made after a discussion about what was as stake. The conversation was concentrated on academic risk because there was little support for DMD research. Nearly nothing from NIH and no researchers could support their lab if it focused only on DMD. In the middle of that discussion, one father stood and yelled (honestly, he yelled!) “I have the most RISK, I have the most at stake, and it is, after all, not about you, but rather about my son.”
He was right, and to this day, his words echo in my heart. After that initial meeting, we received a copy of a letter written by Ron Worton and Terry Partridge, suggesting that the parents (us) were not to be considered desperate or crazy parents, but rather capable and intelligent individuals who were willing to help. (It felt like walking on the moon…one step for humanity!) It was a turning point for this community. We were incorporated into the DMD research and care community. We were no longer to be considered outsiders, to be held at arms’ length. We are the BDMD community and integral members of the team, stakeholders, investors and partners.
The conference is overwhelming for me. My mind is always racing, trying to look at things objectively and comparing that to my thoughts as a parent. I am always amazed by the concentration of the group. So many hours they sit - listening, concentrating, discussing, and hoping. The questions are always surprising for researchers and physicians – though not to me. Researchers and physicians always comment about the degree of knowledge, the thought-provoking questions, the interaction, the community. I’m not surprised. We have to know – it is not an option.
Let me start by saying Mary-Lou Weisman was wonderful. I think she was a bit overwhelmed, having been away from the DMD world for so many years. After 30 seconds (ok, maybe a bit longer) she slipped right back into those old shoes and, for a moment, I think she realized that she had just rejoined her lost family. Her presentation was beautiful - she read wonderful parts of the book, parts that apply to the entire family and not just one painful area of DMD progression. She said the words that we all feel, but are afraid to say out loud for fear of losing something more - maybe relationships? The anger she felt toward her husband, frustration about the demands of DMD, loss of the life she had planned, etc. Her breakout session concentrated on social isolation, inviting the audience to participate. The "From Where I'm Seated” (P. Moeschen and J. Gapko) followed and honestly, continued and expanded the discussion. The important part of this discussion was that parents/family members felt comfortable asking all the questions they are afraid to ask their own sons. I am no expert, but I was always afraid to ask my sons difficult questions. I thought I already knew the answers and knew my heart would break if they answered what was in my head - or worse, if their answer was even more painful than the one I had in mind. Pat and Joseph were excellent, describing students/peers questions about their disability. (Pat teaches high school music/band in MA and Joseph is a PhD candidate in library science). Pat said "disability sucks” so let's get on with life. And he’s right.
There was a certain moment in the conference during the discussion of Exon skipping (AON) when I had to close my eyes. I could feel the tension in the room with the discussion of Exon 46 or 51 – the vision of a roulette wheel and someone screaming, “my son wins!” It’s hard, I know this quite well - wanting your son fixed and making a promise in your head that just as soon as that happens, you will help the others. The reality is that the AON therapies are being developed PERIOD. The chemistries they are developing are directed toward specific exons ONLY for proof of concept and there are a few things that need to be well understood before this approach could be considered a treatment. We need to understand what chemistry and for what Exon(s), keeping in mind that potentially certain chemistry will work well in a certain instance and a different one in another instance. Systemic delivery is still a problem. Early work in animals suggests that the uptake of the oligo is not uniform at the moment that all muscles do not respond equally. In addition, while we know something about the shortened versions of Dystrophin based on patients with Becker muscular dystrophy, we have to keep in mind; the patients with Becker have always had this shortened version of the protein. Is this promising? ABSOLUTELY. Are we moving forward? ABSOLUTELY. We have now signed with MDA to develop an international consortium with the idea of securing significant funding for the development of clinical trials – a pipeline of money that would accelerate translation of AON. It is promising and is in development for the 60+% of individuals diagnosed with DMD. The proof of concept trials will be directed toward specific exons of course, but the actual approach is broad.
Often I have the feeling we are locked in the DMD ‘yard’ with a chain-link fence around us. We tend to spend all of our time calculating, measuring, and trying to figure out a way to climb over, dig under or blow up the fence in order to escape this place. I am all for planning the escape, but there is something else and Jacob/Josef and Pat brought this right home. We must all take some moments to enjoy the ‘yard’, plant the flowers, lay in the hammock, enjoy the sun – more than anything else in the world, our sons are wonderful gifts to enjoy every day. This is not said to lessen our drive or our desire to craft the escape – it simply means that today is quite important as well.
Posted by ppmd at 02:31 PM | Comments (6)