Wondering if anyone's child has this deletion and how they are progressing.  CHOP in Philadelphia said out of 21 known with this particular deletion, 2 had becker, 18 had duchenne and 1 had an intermediate progression.

Thanks,

TJ's Mom, Tammy

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Replies to This Discussion

Have you checked in with the Duchenne Connect registry folks? They gathered a ton of data including genetic test results and I for one learned a lot from it.

They were even able to tell me directly how many other boys shared my son's deletion in the registry.

Here is some recent info from a study based on the data they collected.

http://community.parentprojectmd.org/profiles/blogs/results-from-du...

-David

My son to has deletion of 45. He has duchene. He is progressing faster than i would like. Hes already been fitted for a chair.

My son has a deletion of 45. He is almost 16 and still ambulant. He uses wc for long distances only or crowded places. He takes deflazacort since age of 6. phisio twice a week, hydro twice a week, stretching done by dad every other day.



JR said:

 

Thanks JR, that is so good to hear...What is phisio and hydro?

JR said:

My son has a deletion of 45. He is almost 16 and still ambulant. He uses wc for long distances only or crowded places. He takes deflazacort since age of 6. phisio twice a week, hydro twice a week, stretching done by dad every other day.

I have 2 sons and 2 nephews with a deletion of exon 45.

The oldest of the four is 10 or 11 now, and is still ambulant.  Goes up and down stairs with minor struggles, and walk about a block before getting tired. 

Wow, that is 4 in one family!  I am so glad to hear that the oldest is still walking.  We just got our second child, 1 yr old Tyler tested and his CK levels were normal.  I am so thankful, however in a strange way, I felt bad for TJ that he was "the unlucky" one.  Are your boys on any supplements?  Thank you so much...Love the hats!

Andrew Kerr said:

I have 2 sons and 2 nephews with a deletion of exon 45.

The oldest of the four is 10 or 11 now, and is still ambulant.  Goes up and down stairs with minor struggles, and walk about a block before getting tired. 

No supplements, just Deflazacort for the two oldest.  Hayden has been on Deflazacort for about 2 years now, and Cameron will likely start next year.  He's only 3 now, so a bit young to be swallowing pills.  I think just the older of our 2 nephews is on Deflazacort, I don't think they've started the younger one yet.

Hi Tammy -

My son Bryan is 12 and still walking, though it's becoming a struggle for him. He uses a wheelchair for most of his school day and shopping, but never at home. Stairs are out of the question at this point.

Thanks Tina, is your son on any supplements?

My son has a deletion of 45. He is 15 and has been in a wheelchair fulltime for about 2 years. He just had spinal fusion on May 8th. Do you go to C.H.O.P.? We go to AI Dupont in Delaware, but we live in PA.

Debbie, do you feel Dupont has better care?  I took TJ to CHOP but am looking to take him elsewhere.  Is your son on any supplements?

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