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Hello everyone. I am new to this site and hoping for some insight from fellow parents with children who have large in frame deletions. My son was officially diagnosed last week with dmd/bmd deletion of exon 3 to 29 (although we knew this diagnosis was possible at 13 months). My understanding is that they are not quite sure what to classify him as because of the particularly long mutation starting in the beginning and being inframe. If anyone has a child with a similar deletion, I would love to hear experiences and possible outcomes. I have hope that he could possibly have Becker`s but I am also not ruling out Duchenne`s. Advice/suggestions/opinions/anything?!

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Hi Shaynee, welcome to the group that no one wishes they had to be a member of. Perhaps to clarify things the docs will ask for a muscle biopsy to see how much dystrophin your son is making. None would mean Duchenne, some would mean Becker's.

Regards, Andrea

Hi Andrea! We are hoping to see a neurologist in Columbus Ohio in the near future who will give us more insight into doing a muscle biopsy. His primary neurologist seems quite clueless ( she basically said we are just going to have to wait and see how he progresses...didnt even suggest a biopsy) so I would like to have a second opinion. She said she has never dealt with a deletion this long but she suspects it will be more severe even though it is in frame. I've done my research and although it a possibility there are many cases that prove it wrong too. I am just so overwhelmed and not sure where I should start in getting my son the best care possible and making the most of such a terrible situation. I see your son is 15 and still mobile...any suggestions/advice on what my next steps should be?!

Try to get to one of the DMD specialists (you are probably seeing one in Columbus), especially a Certified Duchenne Care Center . They will be up on the latest info, research and standards of care for your boy. But if you can't, you can't.

Give yourselves a break, you don't need to learn everything all at once. Your son is still very young. Simon was not diagnosed until he was 6, but we knew something was up at 3 years and I started mentioning things to the pediatrician, who did send us to the Shriner's hospital, but the orthopedic surgeon said he was fine!

Great people here to ask your questions to. 

Best of luck in your journey, we are all at different points on the same road :)  

Thank you for your response. Yes we are suppose to be seeing Dr. Kevin Flannigan...a neurologist very well known in the world of muscular dystrophy. And the diagnosis we received was actually a fluke...he has had elevated liver enzymes since birth and they said it could be many things...since they were still elevated at his year check up we got referred to a gastroenterologist and from there we found out his co levels were 11,000. Apart from all that..we wouldn't have known this soon because he has been a little behind on gross motor development but nothing very major. Anyways I really appreciate your responses and look forward to continue chatting with you!

Have heard of several boys being diagnosed in a similar story to yours. Simon met all his milestones, except that he never really crawled, he preferred to roll everywhere, lol. A bit of a speech delay, but was told it was due to his father being French Canadian and me speaking English! And when he did begin to walk right about 12 months of age he was always falling forward and banging his forehead, had an almost permanent little bruise there, poor kid. 

Yes my son started crawling at about 11 months and shortly after started standing and cruising...he is still not walking unsupported but his father and I were both late walkers as well...and he seems to be cognitively advanced for his age...he says quite a few words...did your son have large calf muscles at a young age? His neurologist said his were already mildly enlarged but again his dad has huge calls and so do I so in not sure what is just genetic and what exactly is caused from this disease! He seems to be doing quite well...can stand and take a couple steps but sits back down like he is unsure of himself...His physical therapist through birth to three actually said she would be quite surprised if it indeed turned out to be duchenne being that he is doing a lot better then other children she has worked with at his age...the unknown is frightening but just trying to keep an open mind and hoping for the best! I hope your son is doing great..and that soon they have something that will help our boys...at this time...Shane doesn't seem to qualify for any clinical trials because he has such a large deletion and it's already in frame but maybe the neurologist in Columbus will know more...keep me updated and I'll do the same!
Hello Shanyee, I do not know which response you got from the specialist since your last message. I am quite new as well here because my nephew (13 months) has been diagnosed here in Italy with a Duchenne exon deletion 8-17. What is destroying us is that the Specialist told us we have to wait until hel will be at least 3 years old to start some therapy! Is it possible that this early tragic news could not generate at least an immediate therapy start?

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