The Jett Foundation Fighting Duchenne Muscular Dystrophy

“I just held him and cried”

June 29, 2016

Today I was reminded that the NDA for Sarepta’s drug, eteplirsen – was submitted for approval…over a year ago. June 26, 2015 to be exact, now 407 days.  We were pleased, we thought – this is progress.

I started thinking about it as I was scrolling Facebook, the social media site that often becomes the virtual home where the Duchenne community gathers. It is also the place where those who are grieving a diagnosis, a loss of function or a loss of life are found. It’s typical for me to find several young boys and/or men, every week who, sadly – have passed. Today was no different. I found the announcement of the fourth young man in less than one week. My heart began to ache. Despite the hundreds who have passed to this disease that I have known – it never gets easier.

Then a message popped up – it was a friend from California who has a son participating in another trial, the safety trial (45-101) for exon 45. Her son started drug 38 weeks ago. He was non-ambulatory and had lost most of his upper limb function – very typical Duchenne progression. She was checking in…I asked her how her son was and if she has seen anything different.

“Doing good. He hugged me two weeks ago. I normally had to lift his arms around me after putting him to bed – but when he asked for a hug and I leaned over he didn’t give me a chance to lift his arms. They were around me and suddenly I realized I didn’t do it. I just held him and cried. ❤️❤️❤️

Her response sent my emotions soaring. Grieving the loss of the boys confounded with a young man able to hug his mother – again. He lost the ability, and it came back. Wow.

Understand that in Duchenne – walking, feeding oneself and performing activities of daily living ALL GO AWAY. Functional activities, like those I mentioned, can often be replaced by equipment or with help from others. While not optimal, walking can be replaced with a wheelchair/scooter, other functional activities can be done with assistance. But the ability to hug someone you love, well – I think many would agree, this is irreplaceable.

A boy with Duchenne hugged his mom. He is on an exon skipping drug from Sarepta, for a different exon other than 51. He was clearly declining, now he is stable and has demonstrated improvement. It is not the 6 minute walk test, it doesn’t measure how fast he gets off the ground, it is not a validated endpoint by FDA. Hugging, how is that quantified? Measurable? Is it an endpoint, heartfelt and important to the patient and family? Meaningful?

So, we wait, we watch Facebook, we console and we celebrate, and we ask ourselves, how is this humanly possible? And when we cry, it is because we are caught in a state of purgatory of life and death. 407 days is too long. This is not progress.

It just needs to end now. This is not sustainable.

 

 

 

 

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