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October 13, 2005
October 5
Is there an elephant sitting on your table? How does it influence what you say or how you say things?
The diagnosis of Duchenne impacts every waking hour, everything we do and everything we say. We become the protector in all sorts of areas, doing our best to protect and preserve muscle and function, protecting our child from too much information at any given time and attempting to protect him from overhearing the words now tattooed in your heart. There is no guide about what to tell, how much to tell or when to tell what.
Frankly, that is a very individual decision and it is not simple.
We started out with the ‘weak muscles’ story, but I always had the sense Chris and Patrick knew far more of the story than the words they were hearing. I worried every day that peers, neighbors, anyone they met along the way would say something, put a name to their ‘weak muscles’ or mention that the diagnosis is fatal. I worried about how they would handle such a comment and how I would respond. Lying to them was not an option They were too smart and they could read me too well. So what do you say and when do you say it? We worry saying too much will make our children ‘give up’ or is it saying it over and over makes US give up? This is something I think we all need to consider.
We try our best to maintain some degree of normalcy, to return to life before the words Duchenne entered our home, but it is not easy because things, while appearing to be the same, life is different now. We have more information and every waking moment and with every conversation, Duchenne is nearby. Conversations with your son about Duchenne, whether you call it by its name or another, more comfortable name, will be the most difficult conversations of your life. One thing I know for sure, you will find your own strength in that of your son.
Posted by ppmd at 12:00 PM | Comments (0)
October 05, 2005
9.29.05
Hard to believe September is over. We saw Katrina and Rita devastate the Gulf Coast States and we are still worried about our DBMD families, some we know are safe, while others we still have not heard from. Sitting in the quiet of my office, I find it hard to imagine how it feels to have everything you own, your neighborhood, and your comfort washed away. I would not know where to start, but maybe the main issue in all of this is to start, somewhere, somehow with that first step forward.
I also know that with every catastrophic event, no matter what or where, our thoughts go straight to DMD with questions about the impact on DBMD research, progress, clinical trials. The hope we hold deep inside takes a blow.
I cannot make predictions or promises, but I can say that I am seeing progress. During the month of September, I have done a good bit of traveling. Our advocacy agenda is on track. Because of your advocacy, we are not just on the radar screen of 4 institutes; Duchenne is a priority within the institutes, thanks to you. NIH will be issuing RFA (request for applications) to accelerate the path of discovery and translation. We have been working with a number of companies and MDA to develop an exon skipping consortium – which is basically a streamlined funding pathway to evaluate chemistries, develop systemic delivery and translation. It is on track and moving quickly. OK, I realize nothing moves quickly enough. But our work with PTC has been amazing. We have hits on 4 out of 5 targets and are in, what is referred to as the ‘hit to lead’ process, identifying specific compounds for preliminary testing. We have scheduled a meeting in December to evaluate anti-inflammatory/anti-fibrotic agents for potential benefit in DMD. We are gathering leaders in the field of arthritis, immunology, DMD, etc. to discuss potential clinical benefit and risk. We anticipate the protease inhibitor BBIC in trial (NIH) in 2006. PTC124 will begin candidate recruitment in the next 2 weeks at Cincinnati and CHOP and later Utah. The AON (exon skipping) proof of concept trial (single muscle) will take place in the Netherlands before the end of this year. We are working with Genetic Alliance on policy issues such as genetic testing, genetic nondiscrimination and hopefully, before long, insurance coverage for ‘designer’ drugs.
2006 will be a monumental year for all of us. Thanks to all of you, there is light in this tunnel and it is growing brighter each day.
Posted by ppmd at 12:27 PM | Comments (2)