Even Against the Greatest of Odds

‘Even against the greatest of odds, there is something in the human spirit, a magic blend of skill and faith and valour, that can lift men from certain defeat to incredible victory’ (Walter Lord Author)

Children and young adults living with Duchenne face certain defeat from a condition that will take their lives each and every time. But this week I was lucky enough to be reminded of the skill and faith and valour of a community of Duchenne patients, families, clinicians and scientists who are dedicated to lift the curtain of certain defeat by slowing or stopping Duchenne in its tracks.

Monday’s Advisory Committee meeting with the FDA was a difficult day for the Duchenne community as they listened to what is the predictable outcome of Duchenne then heard how a group of boys who had been receiving Eteplirsen for a period of 4 years had not only stopped getting worse but had in fact started to regain skills that they had lost: Aidan Leffler went from falling 2-3 times a day to not falling at all; Dr Anne Connolly a neurologist at Washington University said she would have classified her patient with the milder Becker Muscular Dystrophy had she not known him and the progress of his condition prior to his enrolment on Eteplirsen; we saw video diaries of boys gaining the ability to climb into their parents car unaided, we watched video footage of a non-ambulant, 16 year old Austin Le Clair lift his arm over his head, reach into  a backpack on the back of his chair and transfer himself to bed – skills he had lost some years ago.

We heard Duchenne experts – clinicians and scientists –  describe their findings: We heard Dr Elizabeth McNally (Director at the Centre for Genetic Medicine, Northwestern University) describe a ‘clear difference between treated and non treated’ and how ‘any increase in Dystrophin is beneficial’. Dr Lou Kunkel, Professor of genetics and paediatrics at Harvard medical school, said of the Dystrophin produced ‘0.9% is a remarkable amount, there is no reason not to approve’. We heard Dr Perry Shrieh, MD PhD Neurophysiology, Neurology and Neuro muscular Medicine, stress that the data is positive and he sees no reason not to approve.

But such positive outcomes from patients and expert advice was blatantly ignored by the FDA who provided misleading arguments for the non-approval of Eteplirsen. Eric Bastings, MD Deputy Director Division of Neurology and Drug Products with the FDA said ‘We are a science based organisation’ but yet they fail to take the advice of experts in the field. His colleague Ronald Farkas argued that ‘kids could walk if they put their minds to it’. Such utterances only serve to iterate that the FDA is not an expert on Duchenne – if only maintaining the ability to walk were a choice. If only he could see how hard the boys try to stay walking, if only he could understand the impact that losing that ability had on a life, perhaps then he would base his arguments on science and not simply on mere speculation that the boys in the trial perform better because they are ‘more motivated’ (his words not mine).

The outcome of Mondays meeting was a crushing defeat for the entire Duchenne community. For me it was like diagnosis day all over again as I was forced to accept that the reality that in all likelihood I will bury my son. Rigid practices by regulatory authorities and an unwillingness to hear expert testimony and personal experiences will continue to make it impossible for any rare disease drug to make it to market. Throughout our Duchenne journey I have always tried my hardest to ensure that hope takes precedence over my fear of what Duchenne will do to my son and to stay positive but I will admit that on Monday evening, my hope shattered and no matter how hard I try I cannot find the words to describe that feeling.

But losing hope isn’t an option and so I will resign myself to the fact that the fight for Eteplirsen is not over yet. The FDA will make their final decision on May 26th and in that time we appeal to Janet Woodcock of the FDA, and ultimately the key decision maker, to urge her team not to make what she calls a type 2 error and describes as perhaps the most dangerous error the FDA can make i.e. failing to approve a drug that works. Janet herself questioned the integrity of the voting questions put to the panel, which ultimately led to a no vote. Ms Woodcock, we urge you to recognise the testimony of Duchenne experts with decades of experience in the natural history of the progression of the condition and listen to the patient voice. The Duchenne community is not a group of desperate parents who will try anything, we want safe and effective treatments for our children. We want treatments endorsed by experts and that will change the course of the disease and will improve our children’s quality of life beyond measure. Eteplirsen does just that. It has a perfect safety record, experts attest to it’s efficacy and the boys on the trial are living proof that the drug works. Our scientists have the skill, our doctors have the faith and our boys have the valour to lift our community from certain defeat by Duchenne. You have the power to help us and the potential to save a generation. Please do the right thing.

Steroids have the potential to keep Luke walking longer

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