Yesterday we had a follow up with the neurologist to review some blood work and his EEG. It was an interesting appointment, and amazingly I understood everything the doctor said to me (thank you FDSCI 205 class on introduction to DNA that I'm currently taking). The doctor ran a test for something called the MTHFR gene (I know, I almost burst out laughing too. Somebody apparently had a sense of humor while making that acronym.) The doctor says she calls it the Mother Friender Gene...yea, I'll try to think of that when I see it.
Methylenetetrahydrofolate reductase, is the enzyme that turns folic acid (which can not pass the blood brain barrier) into folinic acid (which can pass the blood brain barrier, and is essential for normal development.) 1 or 2 affected genes can lead to learning disabilities, mental disorders, schizophrenia and neural tube defects like spina bifida). It also increases the risk of blood clots, heart disease and chemotherapy toxicity due to hyperhomocysteinemia.
If someone has 1 affected gene, the 2nd gene may take over and work fine, or there is a good chance that the 2nd gene isn't' able to carry the load and the person ends up with Low levels of folinic acid.
If you have 2 affected genes, well, then your up a creek because you likely can't make any folinic acid at all.
Levi has 2 affected genes. Poor kid.
At this point the treatment is high doses of folinic acid.
It will be interesting to see if we notice any changes.