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…Continue
I am the mommy of a beautiful 15 month old boy who was just diagnosed with muscular dystrophy. He has an in frame deletion of exon 3 to 29 so he is being classified at this current time as an "outlier" or "intermediate dmd/bmd." I look forward to getting to know many of you on here and learning all I can about this disease!
Name(s) of child(ren)/individual(s) with Duchenne:
Age(s) of child(ren)/individual(s) with Duchenne:
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I'm sorry for my late response. I do not visit this site much except to check for news. Today I am looking for information on Emflaza. Karsten will be 10 in 2 weeks. He is doing great. He has been in physical therapy since he was 6 months old. He sees a therapist twice a month now. He wears night splints to help prevent heel cord tightening, and he has learned to do the stretching exercises himself. He started deflazacort 2 years ago and has made significant improvement. He has been using the Vecttor machine for 5 years now and I believe it has helped immensely. He started steroids later than most boys, I was concerned about side effects and he was not declining so I wanted to wait. He hit a plateau a couple of years ago and I decided it was time. I chose deflazacort after researching and have been getting it mail order from Europe. Now it will be available here. Good news I hope.
When Karsten was your sons age he fell, a lot. He seemed to trip over nothing and would always hit his head because his little arms couldn't support him when he fell. He is stronger now and stopped the frequent falling around age 4.
He had enlarged calves, still does, but they look more proportional now that he is taller. I remember strangers commenting on how he would be a great athlete one day. It was hard for me to hold my tongue and say no he won't.
I'm glad that you know it is an intermediate diagnosis, I lived years thinking it was Duchenne. His diagnosis was only changed a few years ago when it was obvious he was not declining at the rate of Duchenne.
I hope you and your family are recovering from the initial diagnosis. I remember how hard it was.
You are welcome to contact me by email: jaime_chesnut @yahoo.com
Sorry to hear about your son
My son is 6 1/2 and has also a very large inframe deletion 3-48
And from my friend Simone the deletion from her 5 1/2 years old son is large and inframe too 3-30
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