We've got some very interesting news from Dr. Patterson from the Mayo Clinic. While he still is waiting for some the test results, he has received much the results from CurlyGirl's spinal tap. Most of the results are within normal range, but her results for Folinic acid (INN) or leucovorin (USAN) were very low. The range for normal is 40-100 and KT rated a 41.
Dr. Patterson consulted with another neurologist. This other neurologist has had success with treating children with low levels of folinic acid with greater levels of folinic acid. There are not any possible negative side effects with this treatment. Folinic acid is generally used to help children recover from chemotherapy treatments as it encourages cell regrowth and replacement.
A British case study of children with a genetic disorder that inhibits the absorption of folinic acid describes those children as having: global developmental delay, possible failure to thrive due to inability to gain weight, difficulty eating. (Sounds a lot like our CurlyGirl).
A French case study also describes treatment of a 6 year old girl with many issues including autistic-like features and gross motor skills problems associated with low folinic acid levels. When treated with additional doses of folinic acid, it corrected the autistic-like features and improved motor skills.
We're trying to remain realistic but yet extremely hopeful about the possibility that this course of treatment could help KT. We've really only wanted to know what to expect for her future and the possibility of a treatment is overwhelming right now.
(Or it could be the lack of sleep from the trip that Mommy took to the ER last night. Turns out my gall bladder is rebelling and must be removed. I wanted to come home since we were expecting Dr. Patterson to call. I still need to schedule the surgery some time in the next week to 10 days. By the way, the ER at Sparrow is really nice - private rooms while you're being evaluated. Staff was very helpful both at Sparrow and at St. Lawrence. I had my first ambulance ride today!)
This is getting to be to much for one post - I'll post more about our experience at Mayo later for any other parents getting ready to take the trip.
PS Emilie - Depending on the test results, we are tentatively scheduled to revisit with our geneticist, Dr. Ellison, in the early summer. He wanted to see CurlyGirl again when she was a little older. At that time, he said he might reconsider running the genetic test for Angelmans if she presented any of the characteristics for the atypical phenotype but the more time he spent with her the less he seemed to consider this a possibility. Thanks for commenting - My prayers are with you and your daughter - God Bless!