fullburley

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قبل 3 سنواتdiscuss

1. Give yourself some understanding and grace. You are a good parent, doing your best, never forget that. "How to Keep House While Drowning" I have found to be a good read to help here. 2. Find an expert, hopefully near your region to help with management 3. Find any patient advocacy or support groups to connect and learn from.

fullburley

قبل 3 سنواتdiscuss

For a marketing video that contains both untreated, and before and after DMD with this med, the outcomes are remarkable. https://youtube.com/watch?v=IolcG-a2yeY&feature=share8

fullburley

قبل 3 سنواتdiscuss

The approved label reduced access to 4 and 5 year olds, shrinking the market opportunity in the short term.

fullburley

قبل 3 سنواتdiscuss

Those were for the Muscular Dystophy Association, who cover DMD along with many other neuromuscular diseases.

fullburley

قبل 3 سنواتdiscuss

As a first of kind treatment, they really didn't pick the right endpoints. Seeing videos of kids able to walk up stairs with confidence, after treatment, when they couldn't before, is rather compelling as evidence. Evidence will also be hard to come by in normal quantities given the disease rarity.

fullburley

قبل 3 سنواتdiscuss

It is very expensive. We will likely have $2M USD in insurance claims for medical this year, and our son is currently aged out of the approved label. At a gross cost of $3.2M for this treatment, its expensive but definitely cost effective relatively speaking.

fullburley

قبل 3 سنواتdiscuss

Serum CK testing would be a reasonable cost available surrogate test, if in normal range than muscle isn't being destroyed as one would see in traditional DMD cases. If high, run the genetic test, free in the US and Canada via Decode Duchenne.

fullburley

قبل 5 سنواتdiscuss

In the case of DMD, it's a matter of when and which (typically heart), not if. The muscle fibers turn into fiberous tissues that aren't functional muscle. They fail.

fullburley

قبل 5 سنواتdiscuss

That's for one type of muscular dystrophy, SMA, there are many other types without great treatment options. Lifelong exon skipping treatments recently approved for subsets of DMD are >1M USD per year, and result in dystrophin expression at only a few percent of "normal" (see data from trials of casimersin).