Alex has Muscular Dystrophy
October 26, 2012 some major news came down the line. My oldest son was diagnosed with Muscular Dystrophy. How it happened… well, we had a meeting with his teachers the end of September and they mentioned that he was having a hard time getting up from a sitting position, going up stairs, and falling down randomly. He has always had a strange way of getting up, really subtile ways that we've noticed for years, but what did we know? He also tested for a hearing test and failed. So I decided to take him to his doctor, just to have things tested out and see if there is anything medical going on that is causing the motor problems. And to have his ears checked as well. He's 9.
I should mention at this point that he was tested by the school system in Kindergarden and it was found that he was Autistic. (He was 6.5 at the time.) Very high functioning autistic because he's able to communicate, move and interact with the world pretty much like every one his age. The problems he has with that are mostly sensory related. Too much of it causes him to overload and he also has issues with transitioning from one activity to another. (But it's more than just a regular child could have issues with from time to time) He's a touch OCD as well. However, through all of his struggles with this, he now stays in a regular class room full time with other kids his age, and he's well ahead of most kids his age academically. His biggest struggles are more social than intellectual. And no he's not Aspergers, we get that question a lot when we describe his autism. There are subtile differences between the two. It's hard to explain, I asked the same questions when he was first diagnosed with that as well. We took him in to another specialty clinic at that time, and they pretty much laid it out and put my inquiry to rest on it.
The results of going to the doctor… he had a double ear infection, easy to fix, strangely enough he wasn't having any ear pain and didn't say anything. Which some times he does. But they couldn't find his reflexes in his legs. That's a big deal. It was eerie, his doctor was looking everywhere she could to find it. It gave me goosebumps. There were also a few other things as well. She asked him to do a squat and go from a squat to standing again. Easy enough right? He couldn't do it. (It makes me emotional just thinking about it.)
Anyhow, she wanted to send him to a neurologist right away. In fact, SHE had to make the appointment because it usually takes months to get into see the neurologist. They schedule it months in advance and she wanted it ASAP. And thats really when I knew something was wrong with my son. I mean I did just think that maybe they will find nothing and we'll just get Occupational Therapy for a couple years and things will be fine. But it didn't turn out that way.
I still had to wait 3 weeks until I saw the neurologist. And that's what happened a little over two weeks ago. He did all the same evaluation his pediatrician did and ordered a blood test. The neurologist was EXTREMELY guarded at what he said. Understandably so because hey you don't want to alarm the parents before you get the word back on the test right? I didn't really realize what he was saying/or suggesting or what was really going on until later that night when my husband came home and we'd put the kids to bed and sat down to talk about the appointment. That's when I realized exactly what the test was testing for. Muscular Dystrophy.
Basically the blood test was looking for his CPK count. It's a very easy test from what I understand. A normal count is 100, his was over 600. That combined with the problems the neurologist was seeing with his ability to move and walk and squat and all those things, means he has muscular dystrophy. (There is no second opinion. A high CPK count means there is a definite problem with the muscles in your body. It means disease.) What kind of MD could mean the world. At this point we need to verify the type he has because it will determine whether or not he can get treatment for it. It's a disease, there is no cure. We have to manage it. He could live with this, and possibly walk for the rest of his life, or he could degrade quickly and end up in a wheelchair and die early in life. Everything is up in the air until we get that test. This isn't an instant death sentence, he's fine. He'll be fine tomorrow and next month, and possibly the next 6 months. It's long term and it's slow and methodical. Right now we are waiting to see if the insurance company can be manipulated into paying for the verification of the type of MD. So we should get it in the next week. Then, it'll take a few weeks to get the results back and we will have the answer.
But the answer isn't so easy to define to be honest. We had a second meeting the day before Halloween. (My life has kinda been filled with Doctor's appointments for the last few weeks. It won't always be like this, it just is right now.) The neurologist has been giving us reading material and explaining options and where do we go from here. (I'm pretty much going to become an expert in the types of steroids available among other things and muscular dystrophy everything in the next year. There is also a TON of support here in the Phoenix area as well, so we are lucky in that.) The short explanation; it's incurable, but there are ways to extend life, however; everything is experimental. And there are two problems with the treatment as it's meant to help extend muscle mobility. Well, the most important muscle in your body is your heart. And yes, it is also effected by this disease. And the treatment for your muscles you move with doesn't necessarily make it to your heart. And therein is the biggest frustration they are working hard to figure out. We could keep him mobile depending on what he has, but he could in the end die because of his heart. It sucks.
He'll be getting a cardiologist, heart doctor, to watch that. And depending on what kind he has… I'll be getting a cardiologist as well. YEP. Me. The short answer to that: mothers are the carrier of this disease. Females carry it, males get it. Which is why the GREAT majority are males who have it. Only in rare cases do females get it. The test of what kind he has will let us know if this is a mutation or a passed on gene. It could be either as there are NO cases of this problem in my past family history. Which doesn't mean that it wasn't a passed on gene. Just that my past family have been incredibly lucky. If its genetic, they'll be watching me specifically because the carrier can be effected by this disease as they age.
Also just recently found out that because of some of the specific things this disease does, his autism diagnosis could be misdiagnosed. The way he is may have more to do with muscular dystrophy and not autism at all. It's just another sign of the disease he's had for a while. (That just gave me chills when I heard that.)
And that's pretty much everything going on right now. Some days are better than others. Some days I'm really positive that he'll be fine, he'll be walking into his adulthood, we'll find the right treatment to make his mobility last… and then others, I'm worried when he hits puberty with hormones and all, that his condition will excelerate and we'll loose him. The internet is full of both good and bad information right now. And we have a lot to learn about this disease. And I have to stress, this is a rare disease, children don't get this every day. (I'm just saying that because I don't want to worry other parents out there.)
What can people do? Just moral support really. I've told a few people. I'm announcing this now mostly because I just can't NOT talk about it. I really don't care who knows about it. We've told family and a few close friends. I just want to say something at least to put it out there. I just don't want to feel like I'm having to keep this incredibly BIG secret from everyone because that will just eat me up inside to be honest. Especially when it's all I can think about. (Believe me I can keep secrets, but this… this is more than just a secret… it's my life.) It's good to have friends who at least get I have this huge thing on my plate right now. And I possibly might from time to time say something about it on my facebook account or here on my blog, I won't spam because I get not everyone wants to have complete medical updates on the ins and outs of my personal family life. But yeah, this is a journey for my family right now. I'm a pretty open person and I'd rather just get it all out there at once so it's something people know. That and just in two weeks my mind set has shifted so much, I'm beyond my first knee jerk reactions, although I still have my emotional ones. We're settling into living with this disease. The neurologist was really surprised by how fast we seem to be asking questions and taking this all in. He's taken our lead and given us information he tends to hold off on until we are ready for the next chunk of what this is involving. I guess that could be a good thing? I'm taking it as a good thing. Yes, ask questions if you want. I'll answer them the best I can. And if it takes more than just a quick answer or its way too much information for me to explain at that moment just be patient and I'll get back to you.
Thanks for reading this if you got this far. You deserve a cookie.
I should mention at this point that he was tested by the school system in Kindergarden and it was found that he was Autistic. (He was 6.5 at the time.) Very high functioning autistic because he's able to communicate, move and interact with the world pretty much like every one his age. The problems he has with that are mostly sensory related. Too much of it causes him to overload and he also has issues with transitioning from one activity to another. (But it's more than just a regular child could have issues with from time to time) He's a touch OCD as well. However, through all of his struggles with this, he now stays in a regular class room full time with other kids his age, and he's well ahead of most kids his age academically. His biggest struggles are more social than intellectual. And no he's not Aspergers, we get that question a lot when we describe his autism. There are subtile differences between the two. It's hard to explain, I asked the same questions when he was first diagnosed with that as well. We took him in to another specialty clinic at that time, and they pretty much laid it out and put my inquiry to rest on it.
The results of going to the doctor… he had a double ear infection, easy to fix, strangely enough he wasn't having any ear pain and didn't say anything. Which some times he does. But they couldn't find his reflexes in his legs. That's a big deal. It was eerie, his doctor was looking everywhere she could to find it. It gave me goosebumps. There were also a few other things as well. She asked him to do a squat and go from a squat to standing again. Easy enough right? He couldn't do it. (It makes me emotional just thinking about it.)
Anyhow, she wanted to send him to a neurologist right away. In fact, SHE had to make the appointment because it usually takes months to get into see the neurologist. They schedule it months in advance and she wanted it ASAP. And thats really when I knew something was wrong with my son. I mean I did just think that maybe they will find nothing and we'll just get Occupational Therapy for a couple years and things will be fine. But it didn't turn out that way.
I still had to wait 3 weeks until I saw the neurologist. And that's what happened a little over two weeks ago. He did all the same evaluation his pediatrician did and ordered a blood test. The neurologist was EXTREMELY guarded at what he said. Understandably so because hey you don't want to alarm the parents before you get the word back on the test right? I didn't really realize what he was saying/or suggesting or what was really going on until later that night when my husband came home and we'd put the kids to bed and sat down to talk about the appointment. That's when I realized exactly what the test was testing for. Muscular Dystrophy.
Basically the blood test was looking for his CPK count. It's a very easy test from what I understand. A normal count is 100, his was over 600. That combined with the problems the neurologist was seeing with his ability to move and walk and squat and all those things, means he has muscular dystrophy. (There is no second opinion. A high CPK count means there is a definite problem with the muscles in your body. It means disease.) What kind of MD could mean the world. At this point we need to verify the type he has because it will determine whether or not he can get treatment for it. It's a disease, there is no cure. We have to manage it. He could live with this, and possibly walk for the rest of his life, or he could degrade quickly and end up in a wheelchair and die early in life. Everything is up in the air until we get that test. This isn't an instant death sentence, he's fine. He'll be fine tomorrow and next month, and possibly the next 6 months. It's long term and it's slow and methodical. Right now we are waiting to see if the insurance company can be manipulated into paying for the verification of the type of MD. So we should get it in the next week. Then, it'll take a few weeks to get the results back and we will have the answer.
But the answer isn't so easy to define to be honest. We had a second meeting the day before Halloween. (My life has kinda been filled with Doctor's appointments for the last few weeks. It won't always be like this, it just is right now.) The neurologist has been giving us reading material and explaining options and where do we go from here. (I'm pretty much going to become an expert in the types of steroids available among other things and muscular dystrophy everything in the next year. There is also a TON of support here in the Phoenix area as well, so we are lucky in that.) The short explanation; it's incurable, but there are ways to extend life, however; everything is experimental. And there are two problems with the treatment as it's meant to help extend muscle mobility. Well, the most important muscle in your body is your heart. And yes, it is also effected by this disease. And the treatment for your muscles you move with doesn't necessarily make it to your heart. And therein is the biggest frustration they are working hard to figure out. We could keep him mobile depending on what he has, but he could in the end die because of his heart. It sucks.
He'll be getting a cardiologist, heart doctor, to watch that. And depending on what kind he has… I'll be getting a cardiologist as well. YEP. Me. The short answer to that: mothers are the carrier of this disease. Females carry it, males get it. Which is why the GREAT majority are males who have it. Only in rare cases do females get it. The test of what kind he has will let us know if this is a mutation or a passed on gene. It could be either as there are NO cases of this problem in my past family history. Which doesn't mean that it wasn't a passed on gene. Just that my past family have been incredibly lucky. If its genetic, they'll be watching me specifically because the carrier can be effected by this disease as they age.
Also just recently found out that because of some of the specific things this disease does, his autism diagnosis could be misdiagnosed. The way he is may have more to do with muscular dystrophy and not autism at all. It's just another sign of the disease he's had for a while. (That just gave me chills when I heard that.)
And that's pretty much everything going on right now. Some days are better than others. Some days I'm really positive that he'll be fine, he'll be walking into his adulthood, we'll find the right treatment to make his mobility last… and then others, I'm worried when he hits puberty with hormones and all, that his condition will excelerate and we'll loose him. The internet is full of both good and bad information right now. And we have a lot to learn about this disease. And I have to stress, this is a rare disease, children don't get this every day. (I'm just saying that because I don't want to worry other parents out there.)
What can people do? Just moral support really. I've told a few people. I'm announcing this now mostly because I just can't NOT talk about it. I really don't care who knows about it. We've told family and a few close friends. I just want to say something at least to put it out there. I just don't want to feel like I'm having to keep this incredibly BIG secret from everyone because that will just eat me up inside to be honest. Especially when it's all I can think about. (Believe me I can keep secrets, but this… this is more than just a secret… it's my life.) It's good to have friends who at least get I have this huge thing on my plate right now. And I possibly might from time to time say something about it on my facebook account or here on my blog, I won't spam because I get not everyone wants to have complete medical updates on the ins and outs of my personal family life. But yeah, this is a journey for my family right now. I'm a pretty open person and I'd rather just get it all out there at once so it's something people know. That and just in two weeks my mind set has shifted so much, I'm beyond my first knee jerk reactions, although I still have my emotional ones. We're settling into living with this disease. The neurologist was really surprised by how fast we seem to be asking questions and taking this all in. He's taken our lead and given us information he tends to hold off on until we are ready for the next chunk of what this is involving. I guess that could be a good thing? I'm taking it as a good thing. Yes, ask questions if you want. I'll answer them the best I can. And if it takes more than just a quick answer or its way too much information for me to explain at that moment just be patient and I'll get back to you.
Thanks for reading this if you got this far. You deserve a cookie.