"I agree. cK levels can vary and hard to understand why they seem to be all over the place. When Preston was diagnosed 3 years ago he was found to have levels over 61,000. Now he's downtown the 19,000's. His doctors check it every once in…"
"I know this is an old post but thought I would see if I got a response. For the ones who's sons were diagnosed around 5 years if age , what were initial symptoms? My son 5 has had 3 Cpk test 8000, 5000, and 3000. The 3000 one was done at…"
Hi guysI don't mean to be a pain but I have been looking at the trialserve predictor again. And with my nephews deletion of 4-18 it says that 'no stop codon was found either in or out of frame', can anyone tell me what that means??See More
Can anyone tell me what treatment is on the horizon for in-frame deletions. I know exon skipping is only for out of frame deletions to change from DMD to BMD. My newphew has an in-frame deletion which should result in BMD but he has Duchenne. I was just wondering if anyone may have some answers or information??
I just wanted to let you know that, although my son has an out of frame deletion, we too were wondering about the ultimate diagnosis. We don't even have a definite CPK level, but it was estimated at about 22,000. He will be 7 next month and was diagnosed 6 months ago. The drs. did say that he seems to have a "mild phenotype," and that if he continues to do well, they might call him a moderate/mild DMD. We can only keep praying. I was wondering what your nephew's symptoms are at this point? We started deflazacorte less than 2 months ago, but I do think I am starting to see a small improvement in terms of stamina and stairs (he already runs and jumps). I have noticed that he will not run far distances and cannot run very fast (even though he looks like he should be going fast-- it's strange).
In any case, maybe your nephew and my son are similar. I think they're around the same age, too. It's a shame they are separated by the Atlantic ocean!
All the best for a wonderful christmas.
Try this link to get the Steroids presentation, you can even call the Professor Biggar at the hospital he works at and get a personal update on his almost 30 years of steroid research.
We have our son on steroids, our theory, the side effects of Duchenne are fare worse thatthe possible (not garenteed) side effects of staroids. If they do not agree with the boys, then sure stop the steroids, but not trying I feel would not be an option for us. Our second son is due to start soon and he may have side effects as his build is totally different to the eldest.
Good luck with the decision, but research it in depth and then decide.