My son, Connor, has Duchenne Muscular Dystrophy and he is 8 year's old. We've known since he was 2, only because one blood test showed elevated liver enzyme levels but it wasn't anything wrong with his liver. His muscle break down elevates the same tests that they basic blood work tests used for the liver. Connor has the genetic mutation for Duchenne with exon deletions 48 to 52, so he will benefit from the Exon Skipping 53 drugs, and this drug is on the drug companies small list of exon skipping they are willing to tackle at this time.We hold our breath watching the Exon Skipping 51 drugs do their job or try to do their jobs. We see the study results are mostly positive and seem to work well for a majority of the boys. Finally, some hope for our Connor. Drug safety seems no more risky than being on a steroid or growth hormone. No more risky than for me to take a cholesterol lowering medication.
The FDA's decision about Sarepta's Exon Skipping 51 drug is heart breaking. If it is working for even a small fraction of our boys, then let the drug be available!!!! Ibuprofen doesn't work for everyone. Most people use different variations of heart meds, allergy meds, pain meds because our bodies are not created equal. Some respond better to Zyrtec than Allegra. Some respond better to Excedrin vs. Tylenol. If we see positive outcomes with this Exon Skipping 51 drug (eteplirsen) and the safety studies are accurate, then let this drug be available!!!! Give at least some of our sons the ability to survive this awful Duchenne! I'm sure there are good reasons for why all these decisions get made the way they do. And there is absolute desperation for so many of us who want our kids to survive. However, there needs a better balance between the two. Please help us, help our children. Time is running out.