"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…"
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Shaynee Ferguson
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Large in frame deletion of exon 3 to 29
Started this discussion. Last reply by ANTONINO ENEIDE Apr 13, 2017. 7 Replies 0 Favorites
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
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"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…"
"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…"
"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…"
"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…"
"Hi Andrea! We are hoping to see a neurologist in Columbus Ohio in the near future who will hopefully give us more insight into doing a muscle biopsy. His primary neurologist seems quite clueless so I would like to have a second opinion. She said she…"
"Hi Shaynee, welcome to the group that no one wishes they had to be a member of. Perhaps 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 shaynee,
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
When you has questions you can ask us
Best…"
Outliers - Intermediate between Duchenne & Becker MD
The reading frame rule holds true 90% of the time. There remains those 10% that does not fit dmd/bmd phenotype. There is a 3rd form that may be considered as an intermediate between Duchenne and Becker MD(mild DMD or severe BMD.See More
Large in frame deletion of exon 3 to 29
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…See More
Profile Information
- About my family:
- 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:
- Shane
- Age(s) of child(ren)/individual(s) with Duchenne:
- 0-3
- City:
- Beech Bottom
Comment Wall (2 comments)
- At 6:02pm on February 10, 2017,
KarstensMom said…
- 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
- At 6:26am on December 16, 2016,
Nadja said…
- Hi shaynee,
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
When you has questions you can ask us
Best wishes
Nadja
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