Sitting in on the research sessions must feel a bit like betting on horses, feeling the need to take a side, pick one or perhaps two approaches and make some determination about the likelihood for success based on certain data. And it appears so much depends on the ‘code’ – the specific mutation, the particular horse you think is likely to win and where what will be required in terms of function in order to be a candidate for trial.

And then the word ‘clinical trial” is tossed around as if it is easy to participate, as if the clinical trial is the be-all and end all, the end of the road. It isn’t, just ask the families who participated in the 2a trial for PTC124. It was at once exhilarating to begin, to participate in the trial with a new chemical entity with the potential to express full length Dystrophin. Exciting to be sure, but there is another side. The emotional part, wearing your heart on your sleeve, watching blood draws, the anxiety of biopsies, insuring the study drug is taken at the right time, functional testing, travel, time off work, organizing life at home in your absence and the list goes on and on. Then waiting for news, analysis of the data and next steps. And waiting again for those next steps to actually happen. Anxiety, tears, fear, expectations are intertwined together and the lines between them indistinguishable, muddy.

The real answer is that we are at the forefront of promising trials. Trials that are expected to produce full length dystrophin, shortened versions of Dystrophin, upregulate other proteins that may well serve as an efficient substitution for the missing Dystrphin, drugs that regulate the size of muscle or compounds that interfere with degenerative pathways. It is an exciting time for sure, but I would not bet on one horse or one person to get to the finish line.

It is important in mind the presenters give their Sunday best, adding in their predictions on timelines. It is difficult sitting there to determine who is best qualified to accurately predict timelines as there are so many confounding factors. It is easy enough to suggest a certain time frame for trials, for data analysis and next steps and far more difficult to actually hold to those timelines, given that there are potential problems at each step in the process. I was struck by the question from one individual about antisense and the possibility of application to a very early genetic deletion and the casual, rather off hand remark - oh, yes, that is already in place in my lab. What was not mentioned was the path forward, the plan to move from mouse to man, what would be involved, if this was currently on the table and/or what data would be required to take it forward? The simple statement “it’s in the plan’ is not enough to hang your heart on.

I always wonder how it feels for new parents attending the conference. Vulnerable and exposed, hearing so many presentations, all with the word “soon” attached somewhere. And others, suggesting what supplements are essential, what they should be doing for their son, and predicting the future. Often the conversation is hinged on walking because loss of ambulation represents something – loss of hope? Loss of dreams? And what about quality of life? That is the real core of the issue, the real question and it seems really important to ask the boys about Quality. What’s in it for them? What do they want out of all this? Is the loss of ambulation for them the end of hope? The end of life?

Might be worth asking on of the young men that no longer walks, just to keep things in perspective. I worry that sometimes our message to our sons might be interpreted in a way that suggests if they don’t walk, there is little worthwhile in life. Little to enjoy, little to look forward to.

Dr. Elizabeth McNeil met with some of the non-ambulatory young men who spoke eloquently about their perception that individuals who no longer walked were ‘forgotten’ due to the emphasis on ambulation. They felt their voice needed to be heard, that we should focus energy on cardiac and pulnmonary function, endurance and quality of life. They emphasized the need to develop outcome measures for the upper body that are relevant to life – eating, drinking, text messaging.

Every individual with the diagnosis of Duchenne wants to be afforded the opportunity to live, life independentlyl, live happy, fulfilling lives. All said that walking is not the be-all and end all of happiness. They suggested that every individual in the world makes accommodations in order to improve their lives, no matter the degree of functional loss, no matter the age, no matter the diagnosis. We adapt. Maybe that is our best quality and it should not be forgotten, that adaptation involves making improvements, from improvements in daily living to new treatments and one day, cure.

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Comment by Pat Moeschen on September 9, 2008 at 6:03pm
Walking would be nice, but living a full life sitting down is just as good.

Everyone, please remember that! Life is GOOD.
Comment by Kim Innabi on August 20, 2008 at 12:13pm
Hi Pat: Thanks for all you do, and have done for our boys. It is wonderful that you are including older boys and topics relevant to them at the conference. When I first started attending, Nicholas was walking and doing very well, and I thought for sure that one of the treatments I heard about would keep him that way forever! After four years, I have to accept that is not the case and that he is changing, but it doesn't necessarily have to be "for the worst". We are learning what to do to make his life (and ours) easier now that he is not able to walk much anymore, and that is just as important as learning about all of the exciting research that is going on too! All of you at PPMD are doing a great job helping us keep informed - many thanks for all you do!
Comment by Rhiannon Traigle on August 12, 2008 at 2:28am
I read your blog more than once, then I read it to my husband. As new parents embarking on this journey, we needed to hear this. Thank you.

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