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 firstname.lastname@example.org...
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?
I see you live in Chadds Ford which isn't too far from Quakertown. Would you be able to join the PA familes in this area to help with the fundraiser in October? We will need people to man the ticket table and the games.
If so please email me at email@example.com so I can put you on the mailing list.
we actually did the opposite...started at CHOP and ended up at DuPont. We love Dr. Scavina and had found it very easy to get records...our primary doctor gets report a few days after our appointments, but at CHOP it would take months. Plus it is easier to get appoitments at dupont and I feel that there is less time sitting in the waiting room.
Christopher is almost 10 and we have known for almost 3 years now
The therapist at Theraplay are great and very kid friendly...I know they have at least one other DMD patient who is older but they have been seeing him since he was little.
Regina- I'm so sorry I haven't called. It was a crazy/busy weekend for us. We are not going to be home tonight or tomorrow night, but I can give you a call on Thursday night if you are going to be around. It sounds like you've had some stress lately and I'd love to help reduce the load if I can. Hang in there :)
From what I have been told by doctors, their bone density can be low, just because they have DMD (I have read about why, but can't remember), not because of steroids and it is shown that even with steroids (Deflazacort) or without steroids, the chance for bone breakage is about the same. We have increased (after our last visit) to 2,000 mg of Vitamin D3 per day (actually he takes a bit more than that). They have added more calcium as well and want as much calcium from milk, yogurt, cheese, etc. as possible, instead of just supplements. Boys with DMD can and usually are shorter, but not all. Kelvin is between 5-10% of height and has always been. Kelvin has been on Deflazacort since last June. He isn't on Juven, but takes most of the ingredients, Arginine and Glutamine. He takes much less Arginine though than is in the Juven, as I have a nephew who is a professional bike racer and said to be careful to not take too much (my nephew has studied muscles extensively). I may increase the amount though. On my main page, I explain everything that Kelvin takes, except haven't added the Vitamin D3 yet. We love Protandim, it actually helped Kelvin's brain, he changed overnight when starting it. Kelvin couldn't do stairs well until he was about 3, he could do them, but had to go slow and hang onto the rail. We have not decided to do a biopsy and may if Kelvin can ever get into a study. Of course, we would like to know if he could be Becker, but, well, I wouldn't change our treatment, I don't believe. For now, only time will tell. If I haven't already (I can't remember, I'll add you as a friend, so I can answer through email as well.) Keep in touch, Michelle
BMD for Jared was confirmed by two Dr.s because he is doing so great and his CPK is low. When he was first diagnosed, his CPK was 2100 and this past November, it was 765. DMD boys generally have a much higher CPK in the tens of thousands. As far as Jordan's cramping, it is only happening when he tells you so and of that I am sure. It seems like cramping only occurs when he has overdone himself and it sounds just Jordan already has that idea as he has told you. Jared is an in frame deletion also. I hope that answers all your questions. Email me anytime. Glad we can talk. When are you going to post pictures so we can see that beautiful boy of yours? Do you need help with that?
Hi, Patrick will be 7 on Sat. Jan 1oth. He takes his Prednisone in the morning too, 15mg, and he is doing okay. Yes, he still runs around and takes gym. He is also small for his age, but that is good(so I've been told), for the boys to be on the shorter side, the taller they are the earlier scoliosis.
Sorry, busy day. Anyway, limiting activity is something we are all trying to find a balance on. The comments that are being made off my discussion will get us all to reach some better conclusions so keep looking - I even saw some more great comments made today. The neat thing is between today and yesterday, Jared has figured his own balance. Last night I had to apply heat and rub down his left leg because of pain. During recess he had played a game that requires more running, and once he noticed the pain, he stopped the activity. Today, he played handball at recess which requires less running. So, I am proud of him as he is maturing and finally figuring out to listen to his body. He just turned 8 on Nov 14. So, it takes time and I see Jared has to figure it out on his own since all the amount of discussing it from everyone like Mom and Dad, and the PT still does not make him put it into practice until he can figure out the right way for himself. Don't stress. Just keep asking and seeking support. Thank you for reaching out to me. By the way, there is a Christian Group you might like to join that might be of help to you also.
My heart goes out to you right now. Getting a diagnosis like you have received is so hard. It takes time to settle into it and each progression will be another grieving process. But, I can say after almost 2 years of diagnosis, it will get better. I still cannot believe how fast time goes since our diagnosis. God prepared my heart for facing this not just by molding my heart and mind to better deal with this through the years with various trials, but also in the midst of knowing something was wrong, to freaking out over knowing it was DMD to a final diagnois of BMD. In April 2006, Jared woke up in the middle of the night with the worst leg pain, and I just figured it was cramps from growing pains. I figured if he just got up and walked, it would work itself out. It didn't. He could not walk. He went from crawling to tip toe walking within about a weeks time. An x-ray of his left leg revealed a thickened tibia bone. The ortho wasn't concerned since he regained walking and we never remembered seeing much tip toe walking before that, so we went on our merry way. But in the back of my mind I was never settled with this. Then, in August of 2006, he started having some serious IBS issues which were not related but led us down the path to the Gastro running blood tests for liver issues just to be sure and then two tests were elevated (AST, ALT) . His liver was fine so nothing more was done, but again I was not convinced. How could blood tests be elevated and nothing be wrong? So, I did some internet research and found a correlation not only between thickened tibia bones and MD but also AST, ALT blood tests and MD. I immediately called Jared's Pediatrician and he ran the CPK test and the next day called me and told me the results were elevated at around 2100 (normal 200). I called my sister crying hysterically thinking I was going to lose my son early from DMD. He is my only child and I was so devestated. It took time to get more settled with the idea and by the time we received the diagnois on Feb. 13, 2007, I was ready for it. It was hard even getting in to Children's or UCLA since Jared was so mild, no Dr. would see him. It took a neighbor who had a sister in law who worked at UCLA as a Research Scientist for finding a cure for DMD to get us in. Anyway, I have to run right now, so I will email more later. Sorry to end it here.
Hi Regina. We live in Kempton, just outside of Kutztown. Our younger son Patrick, who will be 7 in two weeks, was diagnosed when he was 2 yr. old. We just went to see Dr. Finkel at CHOP and had a great experience. I am sure they will lead your family in the right direction. Jess