Newly Diagnosed
Our son went into the hospital in February with a severe case of pneumonia. Saturday, he was running around like a normal kid, Sunday he started running a fever, and by Wednesday, when we took him to the pediatrician, he was rushed into PICU. Nine days later he was released with instructions to follow up on some abnormal liver function tests. I assured my wife that it was probably just from the antibiotics he was on, and continued assuring her that it was probably nothing each time he was tested. Finally, a GI specialist ran the CK test, and his results came back around 20k. The GI doctor casually suggested Duchenne Muscular Dystrophy, and when I asked (because I had no real idea) he played down the severity of the diagnosis.
I don't blame him. I sat at my desk to read about it a little bit and get a handle on what we might be dealing with, and with each thing I read I felt the world closing in on me. We were worked in with a neurologist who made the official diagnosis, and genetic testing confirmed deletions of 48 to 54.
In the last few weeks I've been gorging myself on information, reading every bit of anecdotal speculation and digging through available research. PPMD is a great resource. I don't know if I would have made it through those first few weeks after the diagnosis without having places like this and others to help me get a better handle on what I was dealing with. The doctor who diagnosed our son didn't have a whole lot of background info to share, but she did set us up with her coworker, who had an extensive background in years prior and was able to discuss (the only) treatment option (prednisone).
I've got a million questions I want to ask, but I will try to titrate them over a period of time and several posts. I do have a couple of questions I wanted to pose to the community more immediately, though.
I was told that wearing some type of brace at night would help him. I see a few things proposed on here, some as low as $100, others as high as several thousand. Does anyone have any suggestions for something inexpensive (maybe $20ish) and unobtrusive? He can be kind of sensitive to certain sensations, and I know if I try to put some big metal contraption or knee length sock on him he won't handle it well. I was looking at the Dorsi-Lite that someone suggested in another forum, but I don't know how soon we can spend $100, and I want to start doing everything I can right now.
The other question I had was, is anyone else from the Charlotte, NC area on here? We have an appointment with Dr. Harper at the local MDA clinic, but the earliest appointment we could get was for July. I was curious if anyone had any input on experience working with her, what her approach is like, what I should expect, things like that.
The second neurologist I saw was a little older, and seemed very pessimistic about trials (both in the past and ongoing) of existing pharmaceuticals to either replace or complement prednisone. I know doctors don't just want to start shoving pills into kids and see what works, but he seemed dismissive of the idea that there is anything currently available that might help (aside from Losartan, which he said was believed to have some impact on cardiomyopathy). Is this generally the consensus, or is he jaded from his past experience? Are doctors trying some of the lower hanging fruit (things like Nabumetone, Limbrel, Isosorbide N2 + Ibuprofen, Albuterol) in off-label use?
I have more, but like I said, I don't want to just vomit everything out here, in my first real post.
Replies to This Discussion
-
Permalink Reply by Ofir Arad on
-
I am sorry, about the diagnosis, we know that its not easy. I dont know exactly when, But I am sure that we will see the cure for this disease. I think that deletion 48-54 could be treated with exon skipping 55.
-
-
Not easy is an understatement, but I know most of the people here relate to what we're going through in a way that others just couldn't, even if they wanted. Like I told my wife last night, though, either we can eat the shark or the shark will eat us, so we're digging in and preparing to fight.
It is treatable by exon 55 skipping, at least according to the Leiden model of the dystrophin gene. My understanding is that exon 55 morpholinos are in preclinical. I saw exon 44 was in phase I and a couple of others would be beginning clinical trials later this year, possibly. So that's a bright point in an otherwise bleak picture. I've read a lot about utrophin upregulation, which seems to be the other big focus with a lot of promise.
Thanks for the reassuring words. It means more coming from someone else that's in this along with us than you might realize.
-
Permalink Reply by Lisa Byrd on
-
Hello Chad,
Our son is 8 years old with the same deletion your son has. We live in the Wesley Chapel area and see Dr. Harper at the clinic. She has been very easy to work with and always available for questions or extra visits if needed. My husband and I would be more than happy to meet you and have our sons get together. Our schedules are really crazy with work, school, stretches and exercises, and general life but we could work something out. Email us at kempbyrd@carolina.rr.com with contact information for you and we can be in touch.
Kemp and Lisa Byrd
-
Permalink Reply by Keith Van Houten on
-
Chad, please accept my friend request, and we can talk more offline. Perhaps I can help you avoid some of the things I, as a Dad, wish I'd avoided when we were first diagnosed.
To answer your specific questions in this post...
Best practice for a night brace is something like I have in the picture below, which is a Cascade DAFO Softy 3.5.
This is where you're going to want to wind up eventually, if your child can learn to tolerate it. My son wears them nightly, at this point, he'd probably have trouble getting to sleep without them. They're his routine.
Just as important as night splints is stretching. Have you seen a PT and learned how to do manual stretches at home? A good supplement to that is a Nada-chair, which is discussed in this post from 2008.
I don't know anything about medical care specifically in Charlotte, but in general, I would keep your expectations low as far as MDA clinics. That was my experience, anyway. Many people try to get to one of the nationally recognized centers if they can, in places like Cincinnati, DC, Columbus, or Boston. Many others around the country are gaining in expertise rapidly and provide excellent care, from what I've heard. We use Cincinnati for annual visits (be there this week, actually), and supplement with the clinic at the University of Michigan. Cincy is an easy drive for us, though.
My advice would be if you're not comfortable with the doctor you see - find another. On this board, you'll probably find someone that sees just about every doctor in the country and can give you their impression. Just keep in mind that what works for one family might not be right for another. Same as any other medical condition.
As far as the drugs you mention - some people use just about all of those drugs you mention, and all kinds of supplements. There's no consensus amongst experts. If there was, it'd be in the Care Considerations for DMD. Some docs and families choose different paths, depending on their tolerance for risk, and their son's specific clinical presentation.
Probably closest to consensus is that deflazacort is preferred over prednisone, as far as corticosteroids. Mostly for less tendancy for weight gain. But, both are in the care considerations, and both are prescribed in the US regularly, although deflazacort is not available through US drug stores, as it's not FDA approved. It can be legally imported for personal use with a prescription, though.
Good luck.
-
-
I accepted the friend request. Any input is appreciated, so go ahead and start firing away. I'm keeping my hopes up about Charlotte's clinic. I've heard a few good things, and done some research on the doctors there. I got in touch with the local MDA representative who might be able to squeeze us in earlier than July, and he told us that Dr. Brooks and Dr. Bravver also were available for our first visit.
I've heard a couple of good things about CMC, and from what I've read the director has been extensively involved in ALS/MDA research.
Lisa, I'll pass your email on to my wife. Her name just happens to also be Lisa. Same deletion, too, there's some crazy unfortunate happenstance, there.
-
-
Hi Keith.
Hope this mail gets you and your boy well.I came across the Nada chair in your post to Chad and i find it quite interesting especially as it wont keep the kid from reading his book or the telly.You can mail me the link of the shop you bought it and the knee immobilizers from?I will really appreciate.Thanks and have a blessed week.
Warm regards
Wainaina
-
Permalink Reply by Cheri Gunvalson on
-
Hi Chad,
I was like you reading anything I could find and in 1999 there was not much out there. I though you might like to hear that there are boys with DMD living a full life as young men. Our son Jacob will be 21 this fall and is finishing up his second year at a branch of the U of MN living on campus. He has hired his roomates to help him in the am and pm. His biggest problem has been too much of a social life and so he is working hard to get his GPA up as he is looking at graduate school. He was in the nonambulatory are of the atlauren trial and is now in the treatment arm. There is great hope in the current trials. I believe Jacob is doing so well because we have been aggressive medically. He sees Dr Wong at Cincinattie Children's now yearly in the summer as he doesn't want to miss his classes. I am not on this site as often now so feel free to email if you have any questions. Warm regards, Cheri Gunvalson RN,MS cgunval@gvtel.com
-
-
Too much social life did me in when I had my first go round at the university. It's good to hear from someone who has made it that far and doing so well, and my hat is off to anyone who had to go through this without the information that's been made available in just the last few years. I feel lost right now, I can't imagine what others before have felt like.
Do you have any advice? Things that you think helped more than others? How is he responding to the atalauren?
-
-
Wainaina - bought it directly from the mfg at www.nadachair.com. The knee immobilizers we actually got from MDA, but I've seen them from medical supply places on the internet. The ones we have are marked with the brand Pedi-Wrap.
-
-
Hi Keith
Thanks so much for the info.Let me get in touch with Nada and see about the cost and logistics of getting it to Nairobi.Lemme check around the net for the Pedi-Wrap .We don't have much info on DMD here and sometimes the docs get so condescending when one asks too many questions.I was basically flying blind until i came across PPMD and the info and fraternity helps to keep my hope up for my boy.Have a good week.Wainaina.
-
-
How are you and your family ,Keith.I am working on the Pedi-Wrap and Nada chair issues.Thought may be i should also ask you for some bit of more info.Would you know of anyone or an organization that can sell us a used powerchair?Kamau,my 8 yrs old son, is finding it almost impossible to walk by himself now.It is a strenuous effort retaining his balance when he is upright .He can no longer get himself up from a sitting position he has to be lifted up.I think the powerchair will give him back his mobility to some good extent as well as independence.Thanks and have a blessed day.
Regards
Wainaina
-
-
Hi Wainaina. I don't know any place specifically that has used power chairs, but a quick google search shows lots of places on the internet. There's also lots of them on Ebay, and some sellers will ship internationally. You might look there.
© 2023 Created by PPMD.
Powered by
Badges | Report an Issue | Privacy Policy | Terms of Service
