In Wales, they test newborns for a variety of genetic diseases, including MD. I was reading an article by a lady who had it done and her son was shown to have DMD. She was upset that they weren't given more information beforehand to make a more informed decision, and ultimately, she said she wishes she hadn't known that he had this disease so soon. She said that she never got to fully enjoy her son because they had the diagnosis hanging over their heads.
I can see what she's saying. While I would have liked to have known maybe two years earlier (just to have started treatments sooner), at least we had 7 years of blissful ingorance. Because once you know, it DOES overshadow everything. I don't think I would have wanted to know right away-BUT on the other hand, I don't think I would feel the same way if my second child had been a boy who also had DMD. At least if you have the knowledge before you have any more children, you can make the choice to have more, or to try other methods that would make another child with DMD less of a possibility. (Of course, none of this is to say I wish we didn't have Seth-that's not at all how I feel or my point-but I think you probably know that). But we probably wouldn't have had the means to do those other methods and may have just chosen not to have any more, and then we wouldn't have Anna, and that is unthinkable.
Another woman commented on that original article and said that she misses the days before they knew. She said that the kids have had happiness since the diagnosis, but she and her husband had not. They had NO happiness. Which is sad. I hope that I don't look back and say that. Obviously I will never be happy with the situation, but I hope that we can still find happiness in our lives.
Tuesday, June 30, 2009
Saturday, June 27, 2009
Frustration
So we have to get this bloodwork done to determine where the mutation on Seth's gene is, plus she wants to check a bunch of other levels that have to be monitored once he starts the deflazacourt. It's been two weeks and the insurance company still has not authorized it. I called yesterday and after being put on hold three times the lady said that all she could say was that it was received and that it was in process. When I asked her why it took so long, she said (rather snippily, I might add), "that's the process."
I honestly don't understand what the hold up is. Like the doctor said, the old way-a muscle biopsy-is way more expensive. You have to get an anesthesiologist and a surgeon and it's a much bigger deal. I understand that it's a more complicated blood test and has to be done at a university in Georgia, but it's still cheaper than a muscle biopsy. There is another family I've been talking to who live in the area whose son was diagnosed last year and they are STILL waiting for their insurance company to pay for the test-they didn't do a pre-authorization on it. Their insurance company is claiming it's a non-essential test. A genetic test is not essential in helping diagnose a genetic disease? Since when???
I was thinking yesterday that I should probably get used to this waiting game when it comes to insurance. And I am so grateful that we HAVE insurance, and it's pretty good insurance, too. I'm just really frustrated with this "process." We can't start the meds till we get the results of those other levels. I suppose we could do it separately but then Seth would have to endure TWO blood draws, and if we don't have to do that, I'd rather not. He had one and it didn't go too terribly but it did hurt and he wasn't a big fan of the whole thing...and I guess two weeks won't make that big of a difference in regards to starting the meds, but I just want to get it going!
I honestly don't understand what the hold up is. Like the doctor said, the old way-a muscle biopsy-is way more expensive. You have to get an anesthesiologist and a surgeon and it's a much bigger deal. I understand that it's a more complicated blood test and has to be done at a university in Georgia, but it's still cheaper than a muscle biopsy. There is another family I've been talking to who live in the area whose son was diagnosed last year and they are STILL waiting for their insurance company to pay for the test-they didn't do a pre-authorization on it. Their insurance company is claiming it's a non-essential test. A genetic test is not essential in helping diagnose a genetic disease? Since when???
I was thinking yesterday that I should probably get used to this waiting game when it comes to insurance. And I am so grateful that we HAVE insurance, and it's pretty good insurance, too. I'm just really frustrated with this "process." We can't start the meds till we get the results of those other levels. I suppose we could do it separately but then Seth would have to endure TWO blood draws, and if we don't have to do that, I'd rather not. He had one and it didn't go too terribly but it did hurt and he wasn't a big fan of the whole thing...and I guess two weeks won't make that big of a difference in regards to starting the meds, but I just want to get it going!
Wednesday, June 24, 2009
Today's appointments
Everything went well. They did an EKG and echo of his heart and they looked good. So basically we have to go back in a year to make sure there were no changes.
We also had another appointment with the neurologist, Dr. Chadehumbe. The appointment was originally to go over the bloodwork (to check various things and most importantly to find out where on the gene the mutation is) but we are still waiting for our insurance to even approve it so we can get it done, but she said we could still come in because we had a lot of questions. We discussed steroid therapy, which we will probably do. We are going to use deflazacourt-it's not approved in the U.S., basically because DMD is relatively rare and there is not a lot of money in that particular med. We chose it because it has far fewer and less severe side effects than prednisone-most notably weight gain, which we don't want because the heavier he is, the more his muscles have to haul around. There are still side effects, including osteoporosis and cataracts, but his bones will be monitored with bloodwork to check vitamin D levels and bone scans will be done periodically (he is actually getting his first one next week). The studies showed that even though most boys got cataracts, they were almost always small and did not interfere with vision at all.
I am so glad Dr. Chadahumbe chose to come to Grand Rapids-she worked with Dr. Wong at Cincinnati Children's, who is one of the top doctors in the field. A lot of people bring their kids from all over (including here) to see Dr. Wong-they see 400-500 boys at that clinic. As Dr. C was saying today, the training most neurologists get is very limited on DMD-but she got lots of experience in Cincinnati and really keeps up with the latest research and treatments. So I feel like we're getting the benefit of 400-500 patients of experience, but with a personal touch.
It was weird-on the way there we saw some firefighters out with boots (to collect money in), but we just thought they were collecting for their station or whatever. On the way back I actually saw the signs-they were actually collecting for the MDA! So we had to stop and give some money. Which we will probably get back in some form. :)
We also had another appointment with the neurologist, Dr. Chadehumbe. The appointment was originally to go over the bloodwork (to check various things and most importantly to find out where on the gene the mutation is) but we are still waiting for our insurance to even approve it so we can get it done, but she said we could still come in because we had a lot of questions. We discussed steroid therapy, which we will probably do. We are going to use deflazacourt-it's not approved in the U.S., basically because DMD is relatively rare and there is not a lot of money in that particular med. We chose it because it has far fewer and less severe side effects than prednisone-most notably weight gain, which we don't want because the heavier he is, the more his muscles have to haul around. There are still side effects, including osteoporosis and cataracts, but his bones will be monitored with bloodwork to check vitamin D levels and bone scans will be done periodically (he is actually getting his first one next week). The studies showed that even though most boys got cataracts, they were almost always small and did not interfere with vision at all.
I am so glad Dr. Chadahumbe chose to come to Grand Rapids-she worked with Dr. Wong at Cincinnati Children's, who is one of the top doctors in the field. A lot of people bring their kids from all over (including here) to see Dr. Wong-they see 400-500 boys at that clinic. As Dr. C was saying today, the training most neurologists get is very limited on DMD-but she got lots of experience in Cincinnati and really keeps up with the latest research and treatments. So I feel like we're getting the benefit of 400-500 patients of experience, but with a personal touch.
It was weird-on the way there we saw some firefighters out with boots (to collect money in), but we just thought they were collecting for their station or whatever. On the way back I actually saw the signs-they were actually collecting for the MDA! So we had to stop and give some money. Which we will probably get back in some form. :)
Tuesday, June 16, 2009
A little light
Anna was so cute last night. I got some new scrubs and was trying them and showed her and she said, "Mommy, you look BEAUTIFUL. I knew you would look pretty in that!" I think I'll keep her-she's good for the old self esteem. :)
Appointments
I know this will probably slow down but the amount of appointments we have is a little overwhelming right now. This week he just had his initial PT eval-she gave us some stretches and we're going to get started on orthotics for his shoes (his arches roll in and his feet start to hurt) and night splints for his legs to stretch him while he sleeps.
Next week however-he has four appointments. Neurology, cardiology (just a baseline, but I'm still a little nervous and hope everything is looking good), PT, and fitting for the orthotics/splints. I would guess he's going to start to wonder why all the appointments? For the most part he's a go with the flow kid and he knows it's for his muscles and that he has issues with them, so maybe not. We're just playing that part by ear. We don't really want to overwhelm him, you know? I'll keep you posted on how the appointments go.
Next week however-he has four appointments. Neurology, cardiology (just a baseline, but I'm still a little nervous and hope everything is looking good), PT, and fitting for the orthotics/splints. I would guess he's going to start to wonder why all the appointments? For the most part he's a go with the flow kid and he knows it's for his muscles and that he has issues with them, so maybe not. We're just playing that part by ear. We don't really want to overwhelm him, you know? I'll keep you posted on how the appointments go.
Saturday, June 13, 2009
Diagnosis
I was just looking back through these posts and realized that I had posted a few years ago about how I feared once Seth started school he would notice how much behind he was other kids, or hopefully start to catch up. Well he didn't, and now we finally know why-he has Duchenne's muscular dystrophy. Even typing that seems so weird...I know it's true (I guess nothing is written in stone till the bloodwork comes back but it's a pretty classic case) but I just can't wrap my brain around it. I suppose that's not something that happens overnight.
It just seems so unreal because I honestly didn't even have a clue. We brought him to an orthopedic specialist last week Thursday because he was just still so stiff and still not up to speed. She wanted to do a blood test to rule out MD-I read her dictation from the visit and she honestly was leaning toward cerebral palsy-both of which were surprising to us since we just thought he had stiff muscles, you know? So when his bloodwork came back and showed pretty definitely it was MD, it was a total shock. I did what people do in the computer age-I googled my ass off and it all kept coming back to Duchenne's-the most common and I think the most debilitating with the shortest life expectancy. I didn't want to believe it, but I knew it was true.
So anyway, then we went to the neurologist-she wasn't there at first so the NP was doing all the stuff they need to do and as the visit progressed I could see her face getting more and more serious and the dread in the pit of my stomach just got deeper and deeper. Then the neurologist came (she had been on call at the hospital) and all of a sudden there are three medical professionals in the room, all sitting there with these grave looks on their faces. So in the space of about a week we went from thinking that he just had some muscle stiffness to knowing that he has this horrible disease that is going to kill him. Not tomorrow, but someday, and along the way we will have to watch him slowly deteriorate. How do you even begin to deal with that?
I was just thinking today that as mothers we do so much to protect our kids. We strap them into their five point harnesses, slather them with sunscreen, make them wear bike helmets, try to get them to eat some decent food, etc. But what do you do when it's his own body that is the thing that is going to do him the most harm?
It just seems so unreal because I honestly didn't even have a clue. We brought him to an orthopedic specialist last week Thursday because he was just still so stiff and still not up to speed. She wanted to do a blood test to rule out MD-I read her dictation from the visit and she honestly was leaning toward cerebral palsy-both of which were surprising to us since we just thought he had stiff muscles, you know? So when his bloodwork came back and showed pretty definitely it was MD, it was a total shock. I did what people do in the computer age-I googled my ass off and it all kept coming back to Duchenne's-the most common and I think the most debilitating with the shortest life expectancy. I didn't want to believe it, but I knew it was true.
So anyway, then we went to the neurologist-she wasn't there at first so the NP was doing all the stuff they need to do and as the visit progressed I could see her face getting more and more serious and the dread in the pit of my stomach just got deeper and deeper. Then the neurologist came (she had been on call at the hospital) and all of a sudden there are three medical professionals in the room, all sitting there with these grave looks on their faces. So in the space of about a week we went from thinking that he just had some muscle stiffness to knowing that he has this horrible disease that is going to kill him. Not tomorrow, but someday, and along the way we will have to watch him slowly deteriorate. How do you even begin to deal with that?
I was just thinking today that as mothers we do so much to protect our kids. We strap them into their five point harnesses, slather them with sunscreen, make them wear bike helmets, try to get them to eat some decent food, etc. But what do you do when it's his own body that is the thing that is going to do him the most harm?
Subscribe to:
Posts (Atom)