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.
Just wanted to introduce myself. I am a father whose son was recently diagnosed with DMD. As you all know, having a tough time dealing with the information. Please keep us in your prayers.
Hey Kara, the last two years have been a mess and we've been all over the place with it. I did start a blog for the first year or two, but I've been neglecting it for the last year. I'm trying to clean it up and pick that ball back up, will post a link in here once I get it sorted out.
In the meantime, if anyone wants to reach out directly with anything you can email me at (mchad.campbell at gmail). Or you can email my wife at (depeche.mama at gmail). Or you can PM me here and I'll reply when I see it. Not that we've got any answers, but sometimes it can be nice just to talk to people who know where you're at.