We did get some more test results from the Mayo Clinic. Greg tells me to stay optimistic, but I think these results are not so great. To make a long story short, some follow-up tests to confirm the glutaric acidemia type 1 came back negative. Perhaps she does not have this disorder (the one that is treatable through diet - though still a bad disorder). Therefore, we are still trying to rule out a mitochondrial disorder. Her "organic acids revealed a minimal elevation of 3-methylglutaconic acid and 3-methylglutaric acid. These metabolites can also be seen in mitochondrial disorders."
It appears the next step is to revisit her muscle biopsy, which is being stored at the Mayo Clinic, on ice somewhere, and do some more testing, trying rule out a mitochondrial disorder. The Mayo doctor also wrote in her report that she would like to do a complete genetic workup using the muscle tissue and the skin tissue collected from biopsies that Allison has had. This is something that the Detroit neurologists wanted us to do at the cost of $1,000. I guess enrolling in a research study at the Mayo Clinic gets those fees waived. I'll consider that our silver lining.
I really hope this gets figured out. The optimism and excitement I had about a week ago has faded, and I have once again resorted to chocolate chip cookies. At least we see some specialists this week. I guess the plan is to keep on, keeping on...three therapy sessions this week, two trips to Ann Arbor, flag football, and a snack day. Yikes...I better get to work!
No comments:
Post a Comment