Last week we went to the neurologist as a follow up to the hospital. Of course we didn't see her actual Dr, we saw another Nurse Practitioner (NP). This makes the third NP at this office we have seen. The third NP that I have had to attempt to explain Sadie's history to. It is so annoying and they all say to me, "you are right, she is very complicated and she really should just be following up with her Dr". If they think this, then why don't they put this in her chart so that they stop scheduling her with the NP's? Then again, at this point in time her Dr doesn't know anything about her either cause he hasn't seen her in almost a year. So frustrating! I have nothing against NP's. Sadie is just too complicated to have to explain her story a million times.
Anyways, this post is not about how much I hate the neurology office. It is an update on
Mission 1, does Sadie have mito or not? We got back another part of the results from her muscle biopsy. The results were for the mitochondrial myopathy profile, which is also another name for the mitochondrial respiratory chain profile (I think). The results showed that everything was within normal limits, except for a mito enzyme marker called Citrate Synthase. I honestly am not really sure what exactly this means. The NP attempted to explain it to me, but honestly I don't really think she understood what this meant. But she said that this meant that Sadie's body is making too much mitochondria and like everything else in life too much of anything is not good. The NP admitted that she and Sadie's Dr really didn't know what to make of these results, but they still believe that Sadie does have some sort of a mito disease based on past blood test results, the high level of that enzyme, and her presenting symptoms, they are just not sure which disease. So of course they want to do more testing. They are trying to get a mtDNA and a nDNA blood test approved. *Sigh* I'm not holding my breath. It took almost a year to get the muscle biopsy approved. We shall see how long it takes for these tests approved.
I'm not sure how I feel about these results. The results are really not that bad. According to this test, her mitochondria are working the way they are supposed to be (at least that is the way I understand it). That is great news! But why is her body making more mitochondria then it is supposed to? Does that mean that they are trying to make up/compensate for something else in her body not working? If so, what? Is that even a possibility? I don't know.
Again, why does everything with this child have to be so complicated?!
Anyways, this post is not about how much I hate the neurology office. It is an update on
Mission 1, does Sadie have mito or not? We got back another part of the results from her muscle biopsy. The results were for the mitochondrial myopathy profile, which is also another name for the mitochondrial respiratory chain profile (I think). The results showed that everything was within normal limits, except for a mito enzyme marker called Citrate Synthase. I honestly am not really sure what exactly this means. The NP attempted to explain it to me, but honestly I don't really think she understood what this meant. But she said that this meant that Sadie's body is making too much mitochondria and like everything else in life too much of anything is not good. The NP admitted that she and Sadie's Dr really didn't know what to make of these results, but they still believe that Sadie does have some sort of a mito disease based on past blood test results, the high level of that enzyme, and her presenting symptoms, they are just not sure which disease. So of course they want to do more testing. They are trying to get a mtDNA and a nDNA blood test approved. *Sigh* I'm not holding my breath. It took almost a year to get the muscle biopsy approved. We shall see how long it takes for these tests approved.
I'm not sure how I feel about these results. The results are really not that bad. According to this test, her mitochondria are working the way they are supposed to be (at least that is the way I understand it). That is great news! But why is her body making more mitochondria then it is supposed to? Does that mean that they are trying to make up/compensate for something else in her body not working? If so, what? Is that even a possibility? I don't know.
Again, why does everything with this child have to be so complicated?!
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