I'm happily married with 3 great boys, I had my younger sons after 40, I hope and pray that I can be strong both mentally and physically for my sons in the coming years.
About my family:
I have 3 boys,9,14 & 28, My middle son was diagnosed with DMD as a Intermediate or Outlier. We were taken off guard by this since he has no real signs any thing was wrong, I took him to have him tested for ADD and they did a liver enzyme test and that is what got us here after many other tests.
Name(s) of child(ren)/individual(s) with Duchenne:
I'm hoping that he will want to drive. I signed him up for the online class to get his learner's permit and have taken him out a few times but he doesn't feel very comfortable. When we're in Cincinnati I'm going to see if the occupational therapist can check him out and give an official opinion on whether or not he's strong enough to drive. I definitely think he is, but he's extremely cautious and I think the only thing that would convince him is an "official" opinion.
I tried to get Jordan into that growth hormone study but couldn't because he started puberty already. I'm going to ask Dr. Wong about prescribing it though since he's only 5'3" and it's bothering Jordan a lot. Hope it helps Jonluke!
We kind of go in cycles with stretching. Right now we're doing stretches together at night--hamstring and heel cord. He can still get to 90 degrees on heels and doesn't toe-walk but I have noticed that he is flat-footed now. I think that happened because he made such a conscious effort not to walk on his toes. His calves are HUGE-definitely bigger than his thighs. We did the night splints when he was first diagnosed for about 6 months but he hated them and his flexibility was still so good we didn't push it. He hasn't worn them since. No problems with finger flexors that I'm aware of. He's on the computer constantly--not sure if that helps or hurts.
So good to hear from you! I hope Jonluke has a great first year in middle school!
Just checking in to see how Jonluke is doing. It's so hard to believe Jordan is a junior in high school! He's still getting around remarkably well and without a wheelchair. The counselors and teachers at his school are wonderful. They have done everything we needed without hesitation. He's really getting interested in computer programming. I'm just so happy that he's interested in something other than video games.
Guess that's all for now. Write when you can! I would love to hear from you!
Jordan was not diagnosed until he was 10 years old but looking back on it, there were signs when he was 5 or 6 that we completely missed. By age 10 he started pulling himself upstairs with his hands and was toe-walking. We took him to the pediatrician, who had never had a patient with DMD before, and after several tests was finally diagnosed.
Yes, Jordan has an IEP. We have been extremely fortunate that everyone at both of the schools that he's been to have gone above and beyond to accommodate his needs. Like you, I had to educate everyone else about Duchenne. I found that after talking to his 5th grade class, all of the kids were more understanding and compassionate.
Yes, Jordan is taking Deflazacort daily and started about 4 years ago. His initial dose was 30 mg but Dr. Wong reduced it to 22.5 mg because his face got really puffy and he was having trouble sleeping at night. He has been on that dose ever since and now weighs 85 lbs. We have never had any trouble with him being overweight because he's such a picky eater. It's not so much the texture or consistency...he just doesn't like fruits or vegetables. But, he loves fish, chicken, steak, potatoes, pasta and anything sour (Sour Patch Kids). Hope this helps. Have a good day!
Great to hear from you! This mutation seems to be much milder than most of them...most people don't even know that Jordan has a disability. He started high school today and I think it's going to be a great year! He's very bright and is in 4 PreAP classes AND the engineering academy. I worked very closely with the head counselor at his school to schedule his classes as close together as possible, got him 2 lockers, an elevator key and a handicapped placard that his friend can use to park just outside the building. He didn't complain at all about the walking. I am hoping that we can make it through high school without a wheelchair. Would love to keep up with you and Jonluke.
We actually haven't had any night splints made here yet. Our last pair were made in March 2007 when we still lived in Cincinnati. I've been given a name here in the area, but I have not idea right now where I put it. I'll let you know once I find it. So far Sam's braces still fit since he's barely grown.
I'm glad y'all had a good visit with Dr. Wong. We'll be up there the 16th & 17th of February.
Soooooo glad to hear that he thinks it's bmd!! Of course no md would be the ultimate:( But, if you are like me, at this point, I will take whatever break I am handed=) Lotze is nice--I just wish he was more aggressive and up to date! Like you getting the feeling that it wasn't a big deal to know if it is for sure bmd vs. dmd. To you as a parent it is a big deal and also treatment for the 2 are different--if he was dmd, steroids would be highly pushed. Once you cross to the bmd, I would guess, the negative vs. positive use of steroids would have to be considered. (If it's severe bmd, I'm sure that Wong would want him to be on steroids--that's what she told us about Wyatt.) We had already started Wyatt on steroids when we got his biopsy results so, Wong wanted to leave him on until our next appt. in Feb. just to see if there was any improvement. I am thinking we might opt to take him off then, es. if he has wt. gain or any other neg. side effects, but will see what she thinks.
And your cardio was right, the steroids do help his heart (and the lungs)--another reason I would want to know for sure which kind to be able to assess the benefits, etc.
Glad to hear that you got an earlier appt.--that's a rarity=) You probably already knew this, but Dr. Poysky is on the ppmd board and his son also has dmd--so great resource for us here in TX!!
Thx for keeping me updated!
I came across your post to Eileen about heart complications and was wondering where you talked to a Cardiologist Geneticist? We are going to see Dr Wong in November and I can't wait as I hope to have some real answers.
Don't let me fool you--I really am just starting this journey but I have a read a ton on dmd. My problem is retaining the info and relaying this to others, as it is all sooo complicated and over my head. I have not been to the site you mentioned but sounds like I should. I sure am hoping that your son will fall into the "non-conforming" category. This whole issue with not measuring the dystrophin is so odd to me. Why did they do the biopsy? What were they hoping to learn from it? As far as getting Lotze or Wong to re-run the test on the tissue, my first choice would be Wong but I also wouldn't want to wait until after Jan. to know the answers. Maybe you could email one of the nurses and ask what lab(s) would do the testing and then see if it is the same as Lotze would use. I know someone who had a biopsy done and the lab didn't keep the sample frozen, so the biopsy was for nothing. I would definitely ask Lotze about the results--maybe he can get a complete copy of the report or be able to interpret what the result of "abnormal amts. of dystrophin" means. And then, if he can't give the info. based on the report, I would ask him how you could get the amt. of dystrophin measured and what that would entail. If they have to send it somewhere else, I would be wary of doing that (esp. if it is Athena labs--this is the lab that didn't keep the sample frozen. Wong said it happens a lot with Athena.). I would hate for the lab to mess up and send it "thawed." I would tell Lotze you will think about it and then ask Wong what she thinks. Sorry to go on and on but would just hate for that muslce tissue to get wrecked--it potentially holds some anwers for you.
Good luck tomorrow. And let me warn you that there were a lot of kids in wheelchairs in the waiting room. It was pretty depressing. Now all of those were not dmd kids but we found the waiting room to be a real slap in the face. The kids were darling but it was hard to face reality. Lotze isn't a dr. full of personality but he was nice and never rushed us. We asked a lot of ?'s and he did his best to answer those according to his knowledge. We had already done our homework and knew he was off base on most things he said but............THANK GOODNESS for DR.WONG!! (and others like her.) Lotze does offer an Rx for deflazacort--I got one to use as a "back-up" in case I ran out of meds and needed a refill before I saw Wong again. (Although, I bet she would fax a script for you; idk.)
Hope all goes well tomorrow. Keep me posted! Jill
P.S. You should swing by sometime when you vist your brother or maybe when you are over this way shopping, we could meet for lunch=)