Several weeks ago, I was invited to participate in a discussion focused on how large pharmaceutical companies should communicate with advocacy; how communication needs to be different in rare disease; and more specifically what advocates in rare diseases expect, want, and need from pharmaceutical companies. I was one of four invited to present and discuss communication. Each of the speakers represented a different rare, pediatric, progressive, and debilitating disease. I sat and listened intently to moms describe long journeys to diagnosis, the frustration of finding capable physicians, the heartbreak of learning that the investment in their child’s disease was abysmal, and that industry had little or no apparent interest. I closed my eyes and remembered our early days.  It was Duchenne, 1994.

The first person to speak described herself as one of many ‘detective moms’; her daughter born without kneecaps.  This mom searched for an accurate diagnosis, identified physicians who knew something about this very rare disease, trained physical therapists to help, but not before traveling paths with no answers and subjecting her daughter to unnecessary surgeries. Today, her daughter is walking, not far and not fast, but walking nonetheless and in high school with plans to become a pathologist.

The second person to speak was a mom whose daughter was diagnosed with a rare genetic disease that involves the dysfunction of a protein essential for normal nerve function because it forms neurofilaments.  As the disorder progresses the brain and spinal cord become involved, causing a gradual decline in mental function, loss of control of body movement, and seizures. Her beautiful 5 year old daughter is predicted to lose all function and die very young.  Her presentation started with these words “I wish my daughter had Duchenne.” 

You can imagine, my mouth dropped and there was a moment when I wondered if I misunderstood. And then, near the end, she repeated “I wish my daughter had Duchenne.” I might have stopped listening to some of her presentation as I found myself trying to sort through the statement. And I recalled, on Facebook the dad from the UK with the campaign “I wish my child had cancer.”

Here’s what I came up with.When your child is sick, you want to know that there is a system in place for accurate diagnosis, interdisciplinary clinics where physicians are experienced, highly trained and capable, where  therapeutic nihilism is nonexistent and hope is in the air, where protocols exist and treatments /interventions have sufficient safety and efficacy, so that the devastating prognosis is not the final answer, where the disease is well characterized and researchers aggressively pursuing therapies and industry is on board and committed to advance treatments and cure and people around the world don’t confuse the diagnosis with something else (such as MD and MS), where there is hope, a paved road and opportunities for treatment. It is all about HOPE.

I was next. I talked about Duchenne and the extraordinary high, unmet medical need.  A disease well characterized and pathology well understood, with a pipeline full of potential opportunities and TIME – the time it takes to advance these therapies and young men who have no time to wait.  I explained that our community, our sons (and some daughters), our families, our friends will do, are doing whatever required to help. I explained that we ask pharmaceutical companies for Commitment, Communication, Transparency, Urgency, and a willingness to do whatever it takes to accelerate the development of therapies and to ensure access for all.

Once again I was reminded that there is nothing more isolating than a child diagnosed with a rare genetic disease. Nothing in the world hurts like watching your child decline. Nothing makes us feel more helpless. Nothing will ever move fast enough and I have learned, in the case of progressive, life-limiting pediatric rare disease, all pain is the same.  Only the details are different.

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