My son, Owen, was diagnosed in July of 2012, 2 weeks prior to his third birthday. We noticed difficulty in climbing stairs and running but thought he just had flat feet. We had never heard of DMD and on 7/25/12 our lives changed forever. Since the diagnosis, we have been on an emotional roller coaster.
Right now, Owen goes to physical and occupational therapy at least 4 days a week, some weeks 5. He goes to swimming class and we keep him as active as possible. We started Owen on Defaxacort (steroid) in November of 2012 at the age of 3 and he has been on the drug for one year. It was a hard decision but a great decision for Owen as his strength increased instantly and we have seen little side effects yet but know that his growth will be stunted etc. We know that Owen has the nonsense stop codon mutation and that Ataluren from PTC will help him. We want Ataluren to be available for him ASAP. We will do ANYTHING to get it. We are frustrated that the clinical trial starts at age 7 and we have to wait 48 weeks for results but we understand the reasons why. And we are nervous that the results and endpoints will not show statistically what the FDA needs to approve when we know from our doctors that this drug is working. We don't care that it isn't proven 100% of the time. We are willing to give it to Owen as he is young and if it can stop the progression of the disease that is all we need.
We are scared and sad for what the future will hold. Everything takes TOO LONG!! We are frustrated and will do whatever it takes to help our sweet boy Owen!!!!