Toward a diagnosis
Aaron's MRI results are unfortunately not good.
The neurologist says the MRI shows two problems. First, as he put it, "abnormalities in the deepest part of the brain." This is the area that controls movement and muscle tone, and Aaron has poor movement and tone. Second, he has too much fluid in some parts of the brain. This can inhibit brain growth.
Two of the blood tests done last month showed "high lactate serum." Those tests need to be repeated to verify, but if correct, they point to some sort of metabolic disorder. The neurologist told us that these MRI results are consistent with metabolic disease.
What does all this mean? First and foremost, it dashes our hope that Aaron's developmental delays are simply delays and not caused by a medical issue. That would have been the best case scenario, but that outcome is now eliminated.
Second, we now need to determine whether in fact Aaron has a metabolic disorder and if so, what. The range of metabolic issues is wide: they can minor, or they can be life-threatening.
So we took Aaron to the metabolism clinic at Children's Hospital. We were there for 3 hours and came away with this:
--We have months of testing ahead of us to determine if Aaron indeed has a metabolism disorder, as the blood work and MRI seem to indicate.
--That testing may lead to a diagnosis, or may not. The metabolism pediatrician said they are unable to diagnose 1/3 of their patients.
--Even with a diagnosis, there are no cures for metabolism disorders, only treatments to mitigate the effects. Whatever he has, he will always have it.
--They are looking at a particular type of metabolism disorder -- related to energy creation, or how his 'engine' burns fuel.
--And the brightest point: the pediatrician, at least for now, is not concerned that he could have the most devastating type if metabolic disorders, those that shorten life spans. She says this because we are not seeing issues with his liver, pancreas or other organs that are often evident by age 2 in children with these disorders. She's not ruling anything out of course, but we can take some relief from this assessment.
We are struggling now with the enormity of this, with this new reality. And we struggle amid all this to find some holiday cheer.
The neurologist says the MRI shows two problems. First, as he put it, "abnormalities in the deepest part of the brain." This is the area that controls movement and muscle tone, and Aaron has poor movement and tone. Second, he has too much fluid in some parts of the brain. This can inhibit brain growth.
Two of the blood tests done last month showed "high lactate serum." Those tests need to be repeated to verify, but if correct, they point to some sort of metabolic disorder. The neurologist told us that these MRI results are consistent with metabolic disease.
What does all this mean? First and foremost, it dashes our hope that Aaron's developmental delays are simply delays and not caused by a medical issue. That would have been the best case scenario, but that outcome is now eliminated.
Second, we now need to determine whether in fact Aaron has a metabolic disorder and if so, what. The range of metabolic issues is wide: they can minor, or they can be life-threatening.
So we took Aaron to the metabolism clinic at Children's Hospital. We were there for 3 hours and came away with this:
--We have months of testing ahead of us to determine if Aaron indeed has a metabolism disorder, as the blood work and MRI seem to indicate.
--That testing may lead to a diagnosis, or may not. The metabolism pediatrician said they are unable to diagnose 1/3 of their patients.
--Even with a diagnosis, there are no cures for metabolism disorders, only treatments to mitigate the effects. Whatever he has, he will always have it.
--They are looking at a particular type of metabolism disorder -- related to energy creation, or how his 'engine' burns fuel.
--And the brightest point: the pediatrician, at least for now, is not concerned that he could have the most devastating type if metabolic disorders, those that shorten life spans. She says this because we are not seeing issues with his liver, pancreas or other organs that are often evident by age 2 in children with these disorders. She's not ruling anything out of course, but we can take some relief from this assessment.
We are struggling now with the enormity of this, with this new reality. And we struggle amid all this to find some holiday cheer.
posted by tylertoo at 11:49 AM
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