I've been noticeably a little off since I was 16 years old. After talking to my geneticist the first time I know that I've been a little off since birth and just didn't know it. I've been really, really off for the past 3 or 4 years now. Since that time I almost died. Since that time I lost my job and landed in the hospital for 13 days. I have gone downhill fast since then.
A lot of the diseases I have can be triggered by a traumatic event. That was definitely a traumatic time in my life. Really traumatic.
Anyway. Compared to most people's mitochondrial disease diagnoses mine was super quick. I had never really heard of mito until around June or July of this year. One of my friends is a strong probable for having it and sort of started hinting that I might have it based on similar symptoms that we had. Then I went and saw my GI doc in June (who I hated) but he had a fellow with him that day who noticed my extremely low muscle tone, my eye weakness, my inability to eat without staying awake (which was the reason I was back at said GI for the 6th month in a row with nothing being done) and the fellow goes, "have you been tested for mitochondrial disorders?" I say no, but I had recently started hearing about it. He tells my GI and my GI of course immediately thinks it's his brilliant idea and begins the process of setting me up with a geneticist. I find out in July I got an appointment with said geneticist at the end of December (Dec. 30 to be exact). And so I waited. And waited. Then I got real sick, real fast.
I started getting so sick so fast in fact that I was admitted to the hospital for a week to do the mitochondrial disease testing panels in September instead of starting in December like originally planned because we couldn't wait any longer. But the tests take forever to come back. So we did my blood tests (like 17 vials of blood), 2 urine tests, a stomach muscle biopsy, small intestine biopsy, and thigh muscle biopsy, and I waited.
I was given a feeding tube because my stomach was not working at all anymore and we did a trial feeding tube and it was found out that I don't fall asleep with the feeding tube which was another big clue leading them to believe I would have mito. Because of that I was started on a baby dose of the mito cocktail with just carnitine and a small dose of coQ10 daily. Then I waited some more.
The tests took 8-12 weeks to come back, so my original first appointment of Dec. 30 was perfect for a follow up appointment to go over test results. When I got there he let me express my concerns about some symptoms I was having and then he got down to my biopsy results. The first 5 he handed me were completely normal. Then he handed me two different ones and he said "these are the ones that have abnormalities." I said, "finally," and laughed. I was so happy to finally have something wrong that I wasn't quite comprehending yet what was wrong or what it meant.
My thigh muscle biopsy showed that I had complex I, III, and IV defects and that my ATP can't convert fast enough based on the oxygen in my skin (or something like that). Basically, there is a whole lot going on with my mitochondria that isn't good. My basic understanding of a mitochondrial disorder is that we do not convert energy in the way that typical people do and it's like trying to run an entire house of electricity with one triple A battery. It just doesn't work out. So this is why I get so tired all the time, and my body just doesn't like to do things right, and my muscles just quit working whenever they want to. My geneticist said my biggest problem at this point is muscle myopathy, or really, really bad muscle weakness. But it's not like regular muscle weakness, it's like I can't read and lose vision sometimes because my eye muscles are too weak, or I can't stand up sometimes because my leg muscles are too weak, or my ankles can't support the weight of my body anymore because the muscles aren't there, or my stomach muscles are obviously too weak to digest my food. Really bad muscle weakness. And it's progressive. And your heart's a muscle. So there's that.
Right now we are doing everything we can to prevent and delay progression as long as we can. And we upped my mito cocktail to double the coQ10 because we found it really helps with my energy. We also added riboflavin to my cocktail to help with pain and we have found that to be really helpful as well. I'm watching and monitoring what is going on with my tube feed diet because even though I'm only getting 800 calories a day on my tube feed a day I'm gaining weight. But when you have a disease where you don't use your energy properly weird things will happen. Right now I'm just still kind of soaking it all in and learning as much as I can about what it is and what it means and where it will go. And learning that it doesn't matter what the test results say, I am who I am, and it's just another test result, it's just another diagnosis. God gave it to me for a reason. I've just gotta find that reason and be thankful for it.
A lot of the diseases I have can be triggered by a traumatic event. That was definitely a traumatic time in my life. Really traumatic.
Anyway. Compared to most people's mitochondrial disease diagnoses mine was super quick. I had never really heard of mito until around June or July of this year. One of my friends is a strong probable for having it and sort of started hinting that I might have it based on similar symptoms that we had. Then I went and saw my GI doc in June (who I hated) but he had a fellow with him that day who noticed my extremely low muscle tone, my eye weakness, my inability to eat without staying awake (which was the reason I was back at said GI for the 6th month in a row with nothing being done) and the fellow goes, "have you been tested for mitochondrial disorders?" I say no, but I had recently started hearing about it. He tells my GI and my GI of course immediately thinks it's his brilliant idea and begins the process of setting me up with a geneticist. I find out in July I got an appointment with said geneticist at the end of December (Dec. 30 to be exact). And so I waited. And waited. Then I got real sick, real fast.
I started getting so sick so fast in fact that I was admitted to the hospital for a week to do the mitochondrial disease testing panels in September instead of starting in December like originally planned because we couldn't wait any longer. But the tests take forever to come back. So we did my blood tests (like 17 vials of blood), 2 urine tests, a stomach muscle biopsy, small intestine biopsy, and thigh muscle biopsy, and I waited.
I was given a feeding tube because my stomach was not working at all anymore and we did a trial feeding tube and it was found out that I don't fall asleep with the feeding tube which was another big clue leading them to believe I would have mito. Because of that I was started on a baby dose of the mito cocktail with just carnitine and a small dose of coQ10 daily. Then I waited some more.
The tests took 8-12 weeks to come back, so my original first appointment of Dec. 30 was perfect for a follow up appointment to go over test results. When I got there he let me express my concerns about some symptoms I was having and then he got down to my biopsy results. The first 5 he handed me were completely normal. Then he handed me two different ones and he said "these are the ones that have abnormalities." I said, "finally," and laughed. I was so happy to finally have something wrong that I wasn't quite comprehending yet what was wrong or what it meant.
My thigh muscle biopsy showed that I had complex I, III, and IV defects and that my ATP can't convert fast enough based on the oxygen in my skin (or something like that). Basically, there is a whole lot going on with my mitochondria that isn't good. My basic understanding of a mitochondrial disorder is that we do not convert energy in the way that typical people do and it's like trying to run an entire house of electricity with one triple A battery. It just doesn't work out. So this is why I get so tired all the time, and my body just doesn't like to do things right, and my muscles just quit working whenever they want to. My geneticist said my biggest problem at this point is muscle myopathy, or really, really bad muscle weakness. But it's not like regular muscle weakness, it's like I can't read and lose vision sometimes because my eye muscles are too weak, or I can't stand up sometimes because my leg muscles are too weak, or my ankles can't support the weight of my body anymore because the muscles aren't there, or my stomach muscles are obviously too weak to digest my food. Really bad muscle weakness. And it's progressive. And your heart's a muscle. So there's that.
Right now we are doing everything we can to prevent and delay progression as long as we can. And we upped my mito cocktail to double the coQ10 because we found it really helps with my energy. We also added riboflavin to my cocktail to help with pain and we have found that to be really helpful as well. I'm watching and monitoring what is going on with my tube feed diet because even though I'm only getting 800 calories a day on my tube feed a day I'm gaining weight. But when you have a disease where you don't use your energy properly weird things will happen. Right now I'm just still kind of soaking it all in and learning as much as I can about what it is and what it means and where it will go. And learning that it doesn't matter what the test results say, I am who I am, and it's just another test result, it's just another diagnosis. God gave it to me for a reason. I've just gotta find that reason and be thankful for it.
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