so my nephew has been in hospital for several days now, and has finally been diagnosed with a rare genetic metabolic disorder called glutaric aciduria (or acidemia) type 1.
apparently, the disease is so rare that there are less than 150 cases reported in the US. i've been trying to do research on it, but most of the stuff i come up with is complete medical jargon like this:
"Glutaric aciduria type 1 is an autosomal recessive metabolic disorder caused by a defiency of glutaryl-CoA dehydrogenase, a coenzyme for the conversion of lysine to tryptophan. This deficiency results in an adverse affect on mitochondrial activity and preferentially involves the basal ganglia. Glutaric aciduria type 1 is clinically characterized by progressive dyskinesia and dystonia. Imaging reveals atrophy of the temporal lobes and a batwing appearance of the sylvian fissures. Abnormal high signal can also be seen in the basal ganglia and caudate nuclei on T2-weighted images. "
from what i've learned, the body cannot process certain proteins normally, which results in a buildup of acids in the body. when the patient has what would be a "normal" childhood illness like a bad cold or the flu, the body goes into crisis, vomiting and having seizures, and irreversible brain damage is done.
they won't know how bad the brain damage is until he's a little older, but as of right now his motor skills have gone downhill. he has trouble holding his head up. prior to this, he was babbling in imitation of speech like babies do, but kelly tells me now he just makes the same sound over and over.
apparently it is an inheirited disorder, if both parents are carriers they have a 25% chance of having a child with GA1 and a 50% chance of a non-GA1 child being a carrier of the disease themselves. it is prevalent in groups of people where the gene pool is relatively small like Amish and Ojibway Indian communities.
the scariest thing i read so far was that children with this disease usually die within the first decade of life.
say a little prayer for him, will you?
apparently, the disease is so rare that there are less than 150 cases reported in the US. i've been trying to do research on it, but most of the stuff i come up with is complete medical jargon like this:
"Glutaric aciduria type 1 is an autosomal recessive metabolic disorder caused by a defiency of glutaryl-CoA dehydrogenase, a coenzyme for the conversion of lysine to tryptophan. This deficiency results in an adverse affect on mitochondrial activity and preferentially involves the basal ganglia. Glutaric aciduria type 1 is clinically characterized by progressive dyskinesia and dystonia. Imaging reveals atrophy of the temporal lobes and a batwing appearance of the sylvian fissures. Abnormal high signal can also be seen in the basal ganglia and caudate nuclei on T2-weighted images. "
from what i've learned, the body cannot process certain proteins normally, which results in a buildup of acids in the body. when the patient has what would be a "normal" childhood illness like a bad cold or the flu, the body goes into crisis, vomiting and having seizures, and irreversible brain damage is done.
they won't know how bad the brain damage is until he's a little older, but as of right now his motor skills have gone downhill. he has trouble holding his head up. prior to this, he was babbling in imitation of speech like babies do, but kelly tells me now he just makes the same sound over and over.
apparently it is an inheirited disorder, if both parents are carriers they have a 25% chance of having a child with GA1 and a 50% chance of a non-GA1 child being a carrier of the disease themselves. it is prevalent in groups of people where the gene pool is relatively small like Amish and Ojibway Indian communities.
the scariest thing i read so far was that children with this disease usually die within the first decade of life.
say a little prayer for him, will you?
VIEW 8 of 8 COMMENTS
fuck:
i'm sorry for your nephew, its always hard when you find out stuff like that. i hope that everything goes as well as it can for you and your family.
metaleric:
I wish I knew what to say besides sorry.