Calling all duplications - and checking in on status of where our guys are at

Hello fellow duplication parents - I wanted to check in and see where you son's are at.  Can you respond and list the following?

1)  what duplication does your son have?

2)  How is your son doing including level of mobility?

3) Anything you think that is helping as far as RX, activities, supplements. etc

4) How old is your son?

5) How is school going? 

DMD is a rare disease and duplications are the rare of the rare.  If you know anyone that is not in this group - reach out to them and invite them to join.  Make it easy for them - give them the link and tell them it's a resource for them. 

I will start with my son, Will.

1) Will has duplication 54-57.

2) He is mobile but using scooter at school at recess and on longer trips like zoo, etc.

3) Will takes deflazacort which is very helpful but not without side effects.  He is also on CoQ 10, Vitamin D, started Fosamax, Metformin, Losartan.  He does water therapy at least once a week.  Daily stretches, night boots and wrist brace - he broke wrist twice in falling... :-(

4) Will turned 12 in August. 

5) School - he is in general ed but with assistance.  He is struggling in math - I think it has to do with executive planning in the brain.  Math takes alot of steps.  Reading is good although not quite at the 120 words per minute but that again due to processing speed.  Good memory and great vocabulary.  Struggles with writing b/c of speed.  His OT is teaching him on Cowriter but need to teach him typing as he uses hunt and peck style.  Anyone using adaptive technology - love to hear about it. 

Thank you.

Char Burke

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Replies to This Discussion

1) Austin has Duplication 53-60

2) Non-mobile, wheelchair all the time.  Can still eat and drink on his own but does need help dressing and washing hair. 

3) Austin takes Lisinopril, Carvedilol, and Spirinolactone for heart meds (heart function was under 50%; don't have the latest numbers yet. He has an abnormal beat going on in the bottom portion of his heart and will be getting the link put in soon). He also takes D3, Calcium Citrate, CoQ10, and daily Multi-vitamin for supplements. On top of that, his other RX's are Pepcid, Fosomax, Vyvanse (ADHD), Escitalopram (anxiety, depression from steriods),  and Prednisone. And, last, Zyrtec for allergies. 

His main activities are school; video games, watching Football, and going to school Football games as whether permits. Stretches in arms mostly when he'll allow :D.  Getting ready to get boots to where for 4-8 hours during daytime.  We recently checked out the WREX, which is pretty cool but he doesn't need it quite yet. 

4) Austin turned 16 in August. 

5) School- he is in the 10th grade, and doing better this year than in the past so far.  He is in regular classes and has an aid as needed along with content mastery and has access to all class notes as needed. Our school has tablets and netbooks for all kids although they do still do a lot of their work on paper, but no big text books to carry which is great!  He's not great at typing, still slow, and haven't tried the Dragon Speech yet, but plan to soon. 

Thanks 

Ana Smith

Hi,
I have two sons. Both has the same kind of duplications.
1) homozygous mutation in exon 39
2) Both has no problem, can walk, run(not like other boys but still can run).
3) We are using deltacortil steroid. 5 mg for a day. We don't use any other drugs.
4) one is 4, the elder one is 7 years old.
5) We don't see any problem.

I need your assistance. Our doctor was diagnosed as DMD 3 years ago and we began to use steroids. A month ago we went for a check and he said us that this could be BMD. I am confused. Should we use steroids, does my sons have DMD or BMD. They cannot run or walk like the other boys but thats all.
Thank you all.

Hi,

I am new to this.  My son was diagnosed with Duchenne in August 2015 so we are still trying to cope with the diagnosis.  He is 3.5 years old and has a duplication of exon 46. He is walking, runs but waddles, can climb stairs but uses one hand to pull himself up.  He is a very happy kid and goes to school. He hasn't been started on any medications yet.  We are still in the process of going to multiple doctors to see who we want to work with.  He is currently at CHOP in philadelphia, but we are visiting Dr. Flanigan (Nationwide) and Dr. Wagner (Kennedy Kreiger) soon.  We are holding on to hope that there is more research in the duplication area.  

Thanks 

LJ

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