I am married with 2 children, Marissa (5) & Jordan (7). My son was diagnosed w/a deletion at 8-11 in June 2008. We are devestated, but are comforted somewhat by all of the positive information on this website. My son had no developmental delays, and if I hadn't noticed in February that his 4 year old sister went up the steps faster than him, I would probably still be unaware of what was going on. We are anxious to get to Children's Hospital of Phila in August, and start doing everything we can to battle this disease.
Name(s) of child(ren)/individual(s) with Duchenne:
I just read your profile. Lance was diagnosed at 7 and has a deletion at 19.. it is extremely rare. He is now 15 as I said. If your son is doing well now... get him under those lights! Really. There are no ill side effects. It's like laying under a tanning bed except without the tan! It's hard to believe the little red lights are doing anything. but they are! Our doctors are pretty excited about lance's PROGRESS!
Regina, Yes, it is very much worth the drive. We live 45 minutes away and make the trip 3 x a week when we are doing treatment. The more muscle and health your son has, the better the results. Lance loves the light therapy. It makes him feel strong. He is 15 and his heart and lungs are perfect I'm glad to say. His spine is still straight and although he does not walk on his own, he still transfers out of his chair with my assistance. It is well worth the visits. Good luck and let me know if you need more information.
Hi Regina, I am very curious to see what your son's ck levels were after your last post, as well as how you thought CHOP was (children's hosp of Phila)...we have an appt with them in late may, my son was just diagnosed a few weeks ago at 2 1/2....thanks!
hi regina, i saw your posting on the cpk board and wnated to know how his cpk is now? i know it varies a lot, but since you talked about it going down from 27000 to 8000 due to Juven, I am curious. Please reply via email to email@example.com...
We have an 8 yr old with deletion of 6-29. Hope your son is doing well.
Yes, we'll be in Cincy the 16th-18th. We're arriving late afternoon on the 16th in Dayton, but are staying at the Holiday Inn in Covington. We have appointments most of the day on the 17th until late afternoon. On the 18th we just have Dr. Wong in the morning. Our flight home is around 5pm. My cell is 936-520-1560. Give me a call and maybe we can meet up for dinner one night or during a break at the hospital.
I saw a comment about GH therapy on the outliers group section. Our son, age 7, is on GH therapy. I wanted to explain something to you. Will, our son, had a GH test and he was producing adequate GH. However, he is on deflazacort - going on 3 years now and he has fallen off the growth curve. Well, b/c of this, he was diagnosed with constitutional delay - short stature. Our medical RX co. did approve the GH therapy for him based upon the fact that he was now off the growth curve. I hope this makes sense....it does not have to be a situation where you don't have inadequate GH levels....Dr. Rutter is the best endocrinologist to go to at Cincinni Chldren's. She is studying how GH therapy is helping to maintain muscle cells and have long term effects on heart and lungs. Char Burke
Hi Regina. MY son was diagnosed so early because he had a random blood test for a wheat allergy at 9 months. He only had the test because I asked for it since my father and brother have a wheat allergy known as celiac. His pediatrician also ran his liver functions and they were abnormally high. I then went to a liver specialist had him have a liver ultrasound and this doctor ran more blood tests. They found then his cpk to be high 6600. I then went to neurologisgt he said he seemed fine a bit hypotonic (floppy) but pretty normal for his age.
He said I will rerun cpk in one month. They did it was 9900, he then ordered the genetic test it took one month to get the results. He was found to have in frame deletion exon 13, predicted phenotype becker. I just attended the first ever Becker md conference in Boston last weekend. Did you also attend?