"An Interesting Study"
Aaron underwent an EMG and CT scan on Monday April 10th and yesterday I spoke with the neurologist about the results.
The CT scan was to look for deposits of calcium in the abnormalities in his brain (MRIs don't show this). Fortunately, there were none. Had there been, it would have been simply a clue toward what's causing all this. The absence of this is good.
The EMG, which examines his nerves, found evidence of a "very mild" neuropathy, which as far as I can tell is an umbrella term for nerve problems. "Nothing dramatic" he said.
Overall, he said he found this "an interesting study" and is "not sure what to make" of the whole picture.
The questions as I understand them, include: were the lesions in Aaron's brain caused by metabolic disease? Are the lesions in turn causing nerve damage? Are the lesions worsening? If the lesions were caused by a disease, they could worsen.
The neurologist and the metabolic specialist at CHOP now need to talk, and decide what testing they want next. We hope that conversation happens in the next week. They will most likely want to perform a biopsy of his muscle. They may also want to biopsy some nerve tissue and even skin tissue. The biopsies would all be done at one time by a surgeon, with the tissues taken from his thigh.
Results from the biopsies will, we are told, take perhaps as long as six months. In the meantime, but after the surgery, they may start Aaron on a dietary regimen, a "cocktail" of vitamins, the mitigate the effects of the disease. This will be a long and complicated process as well, because they add items to the mix slowly to guard against adverse reactions. Even when the mix is right, this regimen, we are warned, won't produce drastic improvements, "only subtle" the neurologist said.
Meantime we are struggling with Aaron's continued feeding and sleeping issues. We are meeting later today with a new primary care pediatrician who has agreed to oversee his case. And Clarice is checking out a pre-school near us that could be where we place Aaron in the fall.
The CT scan was to look for deposits of calcium in the abnormalities in his brain (MRIs don't show this). Fortunately, there were none. Had there been, it would have been simply a clue toward what's causing all this. The absence of this is good.
The EMG, which examines his nerves, found evidence of a "very mild" neuropathy, which as far as I can tell is an umbrella term for nerve problems. "Nothing dramatic" he said.
Overall, he said he found this "an interesting study" and is "not sure what to make" of the whole picture.
The questions as I understand them, include: were the lesions in Aaron's brain caused by metabolic disease? Are the lesions in turn causing nerve damage? Are the lesions worsening? If the lesions were caused by a disease, they could worsen.
The neurologist and the metabolic specialist at CHOP now need to talk, and decide what testing they want next. We hope that conversation happens in the next week. They will most likely want to perform a biopsy of his muscle. They may also want to biopsy some nerve tissue and even skin tissue. The biopsies would all be done at one time by a surgeon, with the tissues taken from his thigh.
Results from the biopsies will, we are told, take perhaps as long as six months. In the meantime, but after the surgery, they may start Aaron on a dietary regimen, a "cocktail" of vitamins, the mitigate the effects of the disease. This will be a long and complicated process as well, because they add items to the mix slowly to guard against adverse reactions. Even when the mix is right, this regimen, we are warned, won't produce drastic improvements, "only subtle" the neurologist said.
Meantime we are struggling with Aaron's continued feeding and sleeping issues. We are meeting later today with a new primary care pediatrician who has agreed to oversee his case. And Clarice is checking out a pre-school near us that could be where we place Aaron in the fall.
posted by tylertoo at 7:58 AM
0 comments
