Replies to This Discussion

Permalink Reply by Char Burke on December 30, 2009 at 8:51pm

I will start -
Will's age 7 years 5 months
therapy - interdisciplinarian at Cincinnati under care of Dr. Wong & some local care like cardio just to keep on eye on things - endocrine local for the GH therapy but also both at Cincinnati.
drugs - deflazacort - 21 mgs. and GH therapy - just increased from .80 to 1.20
vitamins - multi, vitamin D3 2200 IU's ; protandim, argenine, creatine, calcium chews,
care - Cincinnati - yearly with some local care at Children's in Seattle - swimming weekly, stretches, daily walking - flat surfaces, yoga
Ambulatory (almost hate to put that in writing b/c I am afraid of the future)
Following uptrophin but others as well - but get so discouraged b/c of deletion work is so much more prevalent.

Has some of the classic issues with a slower response time but has done really well in school this year. Is learning to read, loves to sing - remembers all the words to poems or songs that they learn at school. Can pull out names that I can't recall - has trouble with some addition but does better with subtraction; OT says he is more confident this year and willing to take chances that he didn't in the past....Still if he falls around the house, I think that's it, it's started....Likes science - could be b/c I like it.
***Duplication of 54-57
***Can test not that well but teachers say that he is smarter than tests show....Gets things that surprise me.
Behavior issues - still has some sensory issues like getting bumped or not getting his way - starts to cry but maybe that's typical. Does not like getting his toe nails cut - major undertaking to get this done....

I know sometimes he does not listen - but they tested his hearing and it's good....hum, processing delay combined with typical kid selective hearing....Great attitude overall and wants to do things himself vs. someone helping him.....Loves to play with other kiddos....Gets tired at night and usually in bed @ 8pm and then we read for 1/2 hour or so. I'm really watching his weight but still at 43" and 58 lbs. Hoping GH therapy helps out with height and weight and protects muscles.....Char Burke

Permalink Reply by kathy mcdonald on February 9, 2010 at 4:19pm

Char Burke said:

I will start -
Will's age 7 years 5 months
therapy - interdisciplinarian at Cincinnati under care of Dr. Wong & some local care like cardio just to keep on eye on things - endocrine local for the GH therapy but also both at Cincinnati.
drugs - deflazacort - 21 mgs. and GH therapy - just increased from .80 to 1.20
vitamins - multi, vitamin D3 2200 IU's ; protandim, argenine, creatine, calcium chews,
care - Cincinnati - yearly with some local care at Children's in Seattle - swimming weekly, stretches, daily walking - flat surfaces, yoga
Ambulatory (almost hate to put that in writing b/c I am afraid of the future)
Following uptrophin but others as well - but get so discouraged b/c of deletion work is so much more prevalent.

Has some of the classic issues with a slower response time but has done really well in school this year. Is learning to read, loves to sing - remembers all the words to poems or songs that they learn at school. Can pull out names that I can't recall - has trouble with some addition but does better with subtraction; OT says he is more confident this year and willing to take chances that he didn't in the past....Still if he falls around the house, I think that's it, it's started....Likes science - could be b/c I like it.
***Duplication of 54-57
***Can test not that well but teachers say that he is smarter than tests show....Gets things that surprise me.
Behavior issues - still has some sensory issues like getting bumped or not getting his way - starts to cry but maybe that's typical. Does not like getting his toe nails cut - major undertaking to get this done....

I know sometimes he does not listen - but they tested his hearing and it's good....hum, processing delay combined with typical kid selective hearing....Great attitude overall and wants to do things himself vs. someone helping him.....Loves to play with other kiddos....Gets tired at night and usually in bed @ 8pm and then we read for 1/2 hour or so. I'm really watching his weight but still at 43" and 58 lbs. Hoping GH therapy helps out with height and weight and protects muscles.....Char Burke

Permalink Reply by kathy mcdonald on February 9, 2010 at 4:19pm

Char Burke said:

I will start -
Will's age 7 years 5 months
therapy - interdisciplinarian at Cincinnati under care of Dr. Wong & some local care like cardio just to keep on eye on things - endocrine local for the GH therapy but also both at Cincinnati.
drugs - deflazacort - 21 mgs. and GH therapy - just increased from .80 to 1.20
vitamins - multi, vitamin D3 2200 IU's ; protandim, argenine, creatine, calcium chews,
care - Cincinnati - yearly with some local care at Children's in Seattle - swimming weekly, stretches, daily walking - flat surfaces, yoga
Ambulatory (almost hate to put that in writing b/c I am afraid of the future)
Following uptrophin but others as well - but get so discouraged b/c of deletion work is so much more prevalent.

Has some of the classic issues with a slower response time but has done really well in school this year. Is learning to read, loves to sing - remembers all the words to poems or songs that they learn at school. Can pull out names that I can't recall - has trouble with some addition but does better with subtraction; OT says he is more confident this year and willing to take chances that he didn't in the past....Still if he falls around the house, I think that's it, it's started....Likes science - could be b/c I like it.
***Duplication of 54-57
***Can test not that well but teachers say that he is smarter than tests show....Gets things that surprise me.
Behavior issues - still has some sensory issues like getting bumped or not getting his way - starts to cry but maybe that's typical. Does not like getting his toe nails cut - major undertaking to get this done....

I know sometimes he does not listen - but they tested his hearing and it's good....hum, processing delay combined with typical kid selective hearing....Great attitude overall and wants to do things himself vs. someone helping him.....Loves to play with other kiddos....Gets tired at night and usually in bed @ 8pm and then we read for 1/2 hour or so. I'm really watching his weight but still at 43" and 58 lbs. Hoping GH therapy helps out with height and weight and protects muscles.....Char Burke

Permalink Reply by kathy mcdonald on February 9, 2010 at 4:21pm

My son has duplication at Exons 2-8. He went into wheelchair age 8. He passed away at age 17, Nov. 29, 2009. He did not have scoliosis surgery, but was on steroids age 6-9.

Char Burke said:

I will start -
Will's age 7 years 5 months
therapy - interdisciplinarian at Cincinnati under care of Dr. Wong & some local care like cardio just to keep on eye on things - endocrine local for the GH therapy but also both at Cincinnati.
drugs - deflazacort - 21 mgs. and GH therapy - just increased from .80 to 1.20
vitamins - multi, vitamin D3 2200 IU's ; protandim, argenine, creatine, calcium chews,
care - Cincinnati - yearly with some local care at Children's in Seattle - swimming weekly, stretches, daily walking - flat surfaces, yoga
Ambulatory (almost hate to put that in writing b/c I am afraid of the future)
Following uptrophin but others as well - but get so discouraged b/c of deletion work is so much more prevalent.

Has some of the classic issues with a slower response time but has done really well in school this year. Is learning to read, loves to sing - remembers all the words to poems or songs that they learn at school. Can pull out names that I can't recall - has trouble with some addition but does better with subtraction; OT says he is more confident this year and willing to take chances that he didn't in the past....Still if he falls around the house, I think that's it, it's started....Likes science - could be b/c I like it.
***Duplication of 54-57
***Can test not that well but teachers say that he is smarter than tests show....Gets things that surprise me.
Behavior issues - still has some sensory issues like getting bumped or not getting his way - starts to cry but maybe that's typical. Does not like getting his toe nails cut - major undertaking to get this done....

I know sometimes he does not listen - but they tested his hearing and it's good....hum, processing delay combined with typical kid selective hearing....Great attitude overall and wants to do things himself vs. someone helping him.....Loves to play with other kiddos....Gets tired at night and usually in bed @ 8pm and then we read for 1/2 hour or so. I'm really watching his weight but still at 43" and 58 lbs. Hoping GH therapy helps out with height and weight and protects muscles.....Char Burke

Permalink Reply by Char Burke on February 10, 2010 at 1:32am

Kathy - I am so sorry to hear that your son passed on at 17 yrs. I think it's got to be the toughest thing we all face. Are you able to have some friends and family to talk to? How are you coping with this? I just don't know even what to say to help with the pain. Can you post more about your son? I would like to hear about him. Sincerely, Char Burke

kathy mcdonald said:

My son has duplication at Exons 2-8. He went into wheelchair age 8. He passed away at age 17, Nov. 29, 2009. He did not have scoliosis surgery, but was on steroids age 6-9.

Char Burke said:

I will start -
Will's age 7 years 5 months
therapy - interdisciplinarian at Cincinnati under care of Dr. Wong & some local care like cardio just to keep on eye on things - endocrine local for the GH therapy but also both at Cincinnati.
drugs - deflazacort - 21 mgs. and GH therapy - just increased from .80 to 1.20
vitamins - multi, vitamin D3 2200 IU's ; protandim, argenine, creatine, calcium chews,
care - Cincinnati - yearly with some local care at Children's in Seattle - swimming weekly, stretches, daily walking - flat surfaces, yoga
Ambulatory (almost hate to put that in writing b/c I am afraid of the future)
Following uptrophin but others as well - but get so discouraged b/c of deletion work is so much more prevalent.

Has some of the classic issues with a slower response time but has done really well in school this year. Is learning to read, loves to sing - remembers all the words to poems or songs that they learn at school. Can pull out names that I can't recall - has trouble with some addition but does better with subtraction; OT says he is more confident this year and willing to take chances that he didn't in the past....Still if he falls around the house, I think that's it, it's started....Likes science - could be b/c I like it.
***Duplication of 54-57
***Can test not that well but teachers say that he is smarter than tests show....Gets things that surprise me.
Behavior issues - still has some sensory issues like getting bumped or not getting his way - starts to cry but maybe that's typical. Does not like getting his toe nails cut - major undertaking to get this done....

I know sometimes he does not listen - but they tested his hearing and it's good....hum, processing delay combined with typical kid selective hearing....Great attitude overall and wants to do things himself vs. someone helping him.....Loves to play with other kiddos....Gets tired at night and usually in bed @ 8pm and then we read for 1/2 hour or so. I'm really watching his weight but still at 43" and 58 lbs. Hoping GH therapy helps out with height and weight and protects muscles.....Char Burke

Permalink Reply by Tina Klingaman on February 13, 2010 at 9:17pm

Derek is 16 years old, been in a wheelchair since he was 10 years old.
He has a duplication of 46-47.

Medicine: deflazacort, 36mg per day, Co-enzyme Q-10 300mg per day and Fosamax 35mg per week.
He has not had scoliosis or tendon release surgery. No heart problems yet (thank goodness!).

We go to Dr. Mendell in Columbus, OH 2-3 times per year for his care. Dr. Mendell is always so optimistic on his studies so that helps to keep us optimistic too.

He does very well in school, normally straight A's and he plays the clarinet in the school band.

Tina

Permalink Reply by Char Burke on February 14, 2010 at 6:06pm

Hi Tina - thanks for the response. I read about a DMD boy who played a wood instrument and it helped him build up his lungs. The book is called Raising Moon by Penny Wooferson...may have mis-spelled her last name.
At what age was your son taking deflazacort at? Dr. Mendell sounds great Thanks for sharing that there is alot happening - per Dr. Mendell. I some times thing that alot of the research is all around the deletion 51 and 50.
What is Dr. Mendell having you all follow?
Thanks Char

Tina Klingaman said:

Derek is 16 years old, been in a wheelchair since he was 10 years old.
He has a duplication of 46-47.

Medicine: deflazacort, 36mg per day, Co-enzyme Q-10 300mg per day and Fosamax 35mg per week.
He has not had scoliosis or tendon release surgery. No heart problems yet (thank goodness!).

We go to Dr. Mendell in Columbus, OH 2-3 times per year for his care. Dr. Mendell is always so optimistic on his studies so that helps to keep us optimistic too.

He does very well in school, normally straight A's and he plays the clarinet in the school band.

Tina