Wow, that sounds very similar to my son, except for the fact that we had a really young and inexpierenced peditrician.(Hence the late diagnosis) Miller does have a learning disability, but he has an IEP in place and is doing quite well in school. So Miller did not start steriods until he was 9 and after dealing with local Doctors, decided to take him to Dr. Biggar in Toronto. Which has been a real blessing! Dr. Biggar and I think the whole PPMD community hold Dr. Wong in high regard so you will be in excellent hands!
School is what you make it. In Elem. the teachers were awesome and helpful and informed. You really have to call a meeting, have some info handy and break it all down for them. Your sons teacher, Principal, and PE teacher are a must! I have only had to use the "L" (lawyer) word once, and they tightened right up! Miller went to Middle school last year and I had to start the whole process over but it went really well. The one thing I love and I dont know if each state is different, but Miller gets PT once a week at school. Which is great because she lets me know any problems that arise and has had some great recomendations.
I could go on for days....
Here is my email email@example.com, or I could take up your whole page!
Miller does have a deletion of exon 54, and I go to Tonronto in Jan. as well so we'll compare any good info!
Your son and my son have the same deletion. My son Miller is 13 and still walking really well. He was not diagnosed until he 9. Even though they have the same deletion they could have very different prognosis. I really believe a varity of things play a vital role. Treatment, diet, exercise, OT, PT, as well as many other factors will determine his ambulation as well as overall heath.
I would be really interested to know more about your son, and see if up until now they have traveled similar paths. Michelle
Hi Emily. We tried private school for our son Nixon 3years until the end of kindergarten. Nixon has a short term memory deficet that is associated with DMD and needed additional services not offered by private school. We actually started neurofeedback with Nixon between his kindergarten and 1st grade years and it worked wonders for him. The extra help he's received at public school has kept him in a regular ed class and he's still in the grade he should be so it's worked. He's starts middle school next year and we are considering homeshool vs a different private school. I say give it a try with your child and you can switch if it doesn't work. With any school, the teacher makes all the difference.
The best way I can understand a duplication is that there is extra genetic material on specific exons. Whereas a deletion would mean missing genetic material on specific exons. No one has really explained anything to me. Most of what I have learned is from reading this myself. I hope all that will change when I go see dr. Wong. By the way I love the picture of you and your kids on the beach. They are all beautiful. Talk to you later, Kim
WE had a big issue with drool when Ryan was a little younger, but he does still walk around with his tongue hanging out. I thought it was due to his asthma and large tonsils, but he is on meds for the asthma and his tonsils were removed last February. It got better for a while and now it's out again. Ryan's main problem is no language. He had about 10-15 words and lost them all when we moved from North carolina to Florida in June. Now we're trying to regain all of the progress he lost due to the move. He is a very happy little guy, as you can see from most of the pictures!! He loves the beach and the pool!! We go to Duke next week for his first MDA visit. I hope to learn a little more about what he needs then.
Have a great weekend!! Take care!
It sounds like our kiddos were diagnosed the exact same month. I finally talked to Shirley with Dr. Wong's office and we have an appointment in April. I was very impressed with the conversation I had with Shirley. I was a person not a medical chart. She acted as if she had all the time in the world to talk. I can only imagine what the appoinment will be like if everyone treats me as good as she did. I hope your visit will go well. I have not read any complaints thus far. Tell me about how your son was diagnosed. We pushed the issue with our new pediatrician after we moved from Texas because we felt Barett was not progressing physically like he should. We went to a PT for an evaluation and she referred us to a neurologist. His CPK was 25,000 and she said she had never seen a level that high that wasn't Duchenne. The genetic test showed a duplication of exons 2-30. And here we are. I have talked to some very kind people on this website. I have another Louisiana mom to thank for telling me about PPMD community. I only knew of the main PPMD website. Talk to you again. Kim
Your family is gorgeous!!!! How old are your children? I have a five year old girl, and a three year old boy with DMD. He was diagnosed in May of this year. We live in St. Augustine, Florida.
Hey emily, Wyatt was diagnosed very accidentally. He was having issues not related to the DMD. THey through in a CPK level with his labs and it was 20000. What a shocker!!! We weren't sure what to do and they said to have a muscle biopsy done. That was a hard decision because he finally started walking by himself at 13 months and we didn't want that to halt. He did fine. The stain showed no dystrophin, he has a very large deletion of exons 18-41. So it looks like DMD. He is waking up now from nap. Talk to you soon.
Emily, you asked what my son's symptoms were, he really doesn't have any obvious symptoms, we took him to his Ped to see if he had ADD. He was very slow about getting his work done at school, once we knew he had DMD we knew then why he seem to be weaker then most kids his size and age. Weaker in picking up things like grocery bags or pulling a wagon. His 3 year old brother seemed to be stronger. We thought he was just being wimpy, now we know why. I feel bad thinking that now. He seems to alway's be testing his muscles to see what they will do, I don't want to him tell he needs to take it easy but do wonder if he isn't causing damage with some of the things he does. Jumping, racing his bikes and just being a boy. All I have told him so far is the Doctor's say he has a condition that causes his muscles to be weak. He thought after he had his biopsy that he was fixed, he told me since his operation he could jump higher. I told him that was great it worked, but some times it doesn't last. He is to young to understand it all.
All the scientific gene stuff is really confusing to me still =( , but I do know that -out of frame- usually means Duchenne. This darn disease seems to have so many variables, and ways that it exhibits, that I have given up figuring it all out =(. Good thing for clueless people like me, there are some very knowledgeable parents on the PPMD website =) . We got our DNA tested by the University of Utah. I'm a confirmed carrier, but my oldest daughter who is 25, thankfully is not. My 16 year old daughter has to wait until she is 18 to be tested. A positive note for Beau's area of deletion is the fact that all the exon skipping work seems to be going on for that end of the gene, because there is a larger percentage of boys with mutations in that area. Baylor's deletion area only involves about 26 percent of the cases, so unfortunately that will take longer =( , but they are working on other things besides exon skipping, so there is great hope for all our boys! =)
Never give up hope!
If you can't get the answers you need, I'm sure you can fax or email Beau's DNA report to Dr. Flanigan, and he will be able to explain it better. He's Baylor's MDA clinic doctor, and has always been very helpful. If you want his email, just hollar, and I'll send it to you.
Have a great rest of the weekend!
Even though it always breaks my heart to have to welcome another family into our PPMD family, we are glad you are here where the support is so wonderful. Your children are beautiful!!
My son Baylor was diagnosed on June 2 , 2006, almost a week after his 2nd b-day. He has an 8-9 out of frame deletion, and his muscle biopsy showed no dystrophin. He is my little hero =)
Beau is so handsome! Hang in there!! =) Glad you found this group!!
Have a great day =)
Did you have DNA test done? We had a genetic Doc who did our DNA and then we were given a genetic counsler that we could contact with any questions, I didn't know until I read on here there was sucn a thing as in and out of frame, so I called the genetic counsler to see if they could read the results and tell me this and they did. We are also seeing DR Wong in Feb. We see our local guy next week, I just don;t feel our local Docs are the best and I hear Wong is.
welcome to ppmd. The support around here is amazing. Your children are beautiful....what a blessing. I'm curious...are ya'll seeing Dr. Wong or someone closer by? I'm pretty new but if there is anything I can help you with let me know. My Nate has a recently confirmed diagnosis it took FOREVER to get a straight answer.
Emily, Hi you have a beautiful family. Jonluke can hit the ball. He alway's loved minature golf and was good at it. I signed him up this summer for golf camp. He did get tired carrying the clubs at camp. Once he shows more interest we will get him some wheels for his clubs for the next camp. Does your son have an inframe or out of frame deletion. I have read that out of frame is DMD and inframe can be either. Have you started Steroids?
Hi Emily, Wyatt is doing okay. He was diagnosed almost 1 year ago. He just turned 2, and acts just like the typical 2 year old. How old is your little boy. He is so cute. Did he just get diagnosed? How old are your girls.
We live just outside of New Orleans. So you aren't too far away from us. Please keep in touch. My email address is firstname.lastname@example.org