Does anyone else have this deletion??

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Yes, my son, Sam has a deletion of 50. He's 6.
My son, Robert is 1 year old and was diagnosed through newborn screening with deletion of 50.

Laurie, does your son have any cognitive delays? My son seems ok so far.
He's starting to have some trouble with reading now that he's in 1st grade. I'm actually waiting for the diagnostician to call me back about an emergency ARD meeting to get him more help.

Ofelia Marin said:
My son, Robert is 1 year old and was diagnosed through newborn screening with deletion of 50.

Laurie, does your son have any cognitive delays? My son seems ok so far.
How old was your son when he was diagnosed????

Laurie Paschal said:
Yes, my son, Sam has a deletion of 50. He's 6.
How is your son doing????

Ofelia Marin said:
My son, Robert is 1 year old and was diagnosed through newborn screening with deletion of 50.

Laurie, does your son have any cognitive delays? My son seems ok so far.
How is your son doing physically???
can he run and jump or are those things pretty hard right now?
Laurie Paschal said:
He's starting to have some trouble with reading now that he's in 1st grade. I'm actually waiting for the diagnostician to call me back about an emergency ARD meeting to get him more help.

Ofelia Marin said:
My son, Robert is 1 year old and was diagnosed through newborn screening with deletion of 50.

Laurie, does your son have any cognitive delays? My son seems ok so far.
My son is 14 months old now. He is doing fine, no symptoms so far, it is probably too early for seeing symptoms anyway.

Susana Arroyo said:
How is your son doing????

Ofelia Marin said:
My son, Robert is 1 year old and was diagnosed through newborn screening with deletion of 50.

Laurie, does your son have any cognitive delays? My son seems ok so far.
Sam can run and jump, but it's the typical DMD run and jump, not like his unaffected twin brother.

Susana Arroyo said:
How is your son doing physically???
can he run and jump or are those things pretty hard right now?
Laurie Paschal said:
He's starting to have some trouble with reading now that he's in 1st grade. I'm actually waiting for the diagnostician to call me back about an emergency ARD meeting to get him more help.

Ofelia Marin said:
My son, Robert is 1 year old and was diagnosed through newborn screening with deletion of 50.

Laurie, does your son have any cognitive delays? My son seems ok so far.
I have a deletion of exon 50, im 24

My son has a deletion of Exon 50. He will be 20 this May. Though classified a quadriplegic, he can still play on his game controllers and type (peck typing). He is able to feed himself using a high table. Once his arms are on the table he is able to move his hands from the plate to his mouth. He is doing much better than we expected at this stage in his life. I am learning that many of the guys with this specific deletion are living longer lives than that which we were told to expect. I hope that things are going well for you. I see that this post started some time ago but I know it is nice to hear from those a little further down the road.

My Best,

Teri

 

Hi there,
My son is 7 yrs old and is affected by deletion of exon 49 & 50. Like all parents it is a shock for us too and really we do not know what to do and where to start from. We have been reading a lot about exon skipping. Can someone guide us to something pls. We do not mind travelling and even enrolling for the trials that is put up on the net but are scared as the results and side effects are not known. Also what are the natural supplements or food that we can give to slow the DMD progress.
Someone pls advice

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