I would like to know if anyone's child has this duplication and how they are progressing? And if you can describe me your child's development from birth and when they started the first symptoms?

Views: 384

Replies to This Discussion

My two grandsons don’t have that exact duplication, but they have a duplication of exons 8 – 11.  Cole is 7 ½ and Jack is 6 years old.  They both seem to have typical development of a boy with Duchenne.  My daughter suspected something was wrong when Cole was about  18 months old.  They both were late in rolling over when they were babies.  They never crawled on their hands and knees, but more of a “G.I. Joe” crawl.  They both were late walkers (17 months old).  They use the Gower’s maneuver when getting up, although I’ve seen them pop up quite quickly at times.  They have trouble with stairs.  They can’t run or jump as fast at their peers.  They both have enlarged calf muscles.

They are both on level  or ahead of their peers academically.  Cole is a straight A student and was reading at 4 years old.  Jack also followed in his brother’s footsteps academically, although Jack sometimes has problems with processing things quickly.   Jack had some speech delays.   Cole is somewhat athletic for a boy with Duchenne.  He can kick or throw a ball quite far and with some power behind it.  As far as temperament is concerned:  Cole is very social, outgoing, and just generally jumps into life head on.  Jack is a little more subdued and is content to play at home, but once you get him out, he is social also.   At this point in time, they mostly  appear to be typical little boys unless you know the signs of Duchenne.  I hope this helps you a little bit.

Thank you for taking time to share!



Terry Porcaro said:

My two grandsons don’t have that exact duplication, but they have a duplication of exons 8 – 11.  Cole is 7 ½ and Jack is 6 years old.  They both seem to have typical development of a boy with Duchenne.  My daughter suspected something was wrong when Cole was about  18 months old.  They both were late in rolling over when they were babies.  They never crawled on their hands and knees, but more of a “G.I. Joe” crawl.  They both were late walkers (17 months old).  They use the Gower’s maneuver when getting up, although I’ve seen them pop up quite quickly at times.  They have trouble with stairs.  They can’t run or jump as fast at their peers.  They both have enlarged calf muscles.

They are both on level  or ahead of their peers academically.  Cole is a straight A student and was reading at 4 years old.  Jack also followed in his brother’s footsteps academically, although Jack sometimes has problems with processing things quickly.   Jack had some speech delays.   Cole is somewhat athletic for a boy with Duchenne.  He can kick or throw a ball quite far and with some power behind it.  As far as temperament is concerned:  Cole is very social, outgoing, and just generally jumps into life head on.  Jack is a little more subdued and is content to play at home, but once you get him out, he is social also.   At this point in time, they mostly  appear to be typical little boys unless you know the signs of Duchenne.  I hope this helps you a little bit.

Hi Dalibor. My daughter has duplication of exxon 8-17. She has always tripped and fallen since she started walking. She is now 91/2, walking good, (she has inserts, which have really helped her tripping and falling) uses Convaid Cruiser for long walks, like walmart or winco. Excells at school, some social issues. She can't cross the monkey bars, has trouble opening bottles and cutting up food. I had 2 brothers with Duchenne and she seems to be a little ways behind them in weakness. They were in wheelchairs by this age. But that was a long time ago and they are making huge strides now in helping longevity and strength. I am amazed! Best wishes, Sherri

Hi Sherri,

are you thinking that your daughter has some symptoms of dmd? did you talking with doctors about her development, what is them opinion? Because, our doctor says that girls can not catch this disease but can only be carriers.
Sherri Looper said:

Hi Dalibor. My daughter has duplication of exxon 8-17. She has always tripped and fallen since she started walking. She is now 91/2, walking good, (she has inserts, which have really helped her tripping and falling) uses Convaid Cruiser for long walks, like walmart or winco. Excells at school, some social issues. She can't cross the monkey bars, has trouble opening bottles and cutting up food. I had 2 brothers with Duchenne and she seems to be a little ways behind them in weakness. They were in wheelchairs by this age. But that was a long time ago and they are making huge strides now in helping longevity and strength. I am amazed! Best wishes, Sherri

Hi Dalibor! Yes, my daughter definitly shows DMD symptoms. She has a diagnosis of Hereditary Progressive Muscular Dystrophy, Probable Duchenne. Because she is third generation DMD. We are with MDA in Sacramento, Ca. We are now waiting on the results of her x-inactivation test to maybe be able to determine prognosis. At this time we have none. There is an article on PPMD, My Voice-Elizabeth Heller, who is a young woman with DMD. It does happen, but it is very rare! I was also in disbelief, because I do know about Duchenne, but dna analysis proved it and I can't deny her progressive weakness. She is seen every 6 months by MDA specialists and seen every 3 months for OT and PT. We do all her therapy at home after being taught by them. My daughter also had seizures ( thank goodness they resolved about 2 years ago) and also deals with some autism features too. My youngest daughter had her first ck, she is 4, and hers is also high. Anyway thanks for your interest, and I hope the best for both of you and your son. I agree with other posts on your profile, get help early with a professional who understands DMD, it really does make a difference!  Sherri

Dalibor Randjelovic said:

Hi Sherri,

are you thinking that your daughter has some symptoms of dmd? did you talking with doctors about her development, what is them opinion? Because, our doctor says that girls can not catch this disease but can only be carriers.
Sherri Looper said:

Hi Dalibor. My daughter has duplication of exxon 8-17. She has always tripped and fallen since she started walking. She is now 91/2, walking good, (she has inserts, which have really helped her tripping and falling) uses Convaid Cruiser for long walks, like walmart or winco. Excells at school, some social issues. She can't cross the monkey bars, has trouble opening bottles and cutting up food. I had 2 brothers with Duchenne and she seems to be a little ways behind them in weakness. They were in wheelchairs by this age. But that was a long time ago and they are making huge strides now in helping longevity and strength. I am amazed! Best wishes, Sherri

RSS

Need help using this community site? Visit Ning's Help Page.

Members

Events

© 2019   Created by PPMD.   Powered by

Badges  |  Report an Issue  |  Privacy Policy  |  Terms of Service