We are close to a diagnosis!

Yesterday Allison had a well-child check with her awesome pediatrician.  We, obviously, had a lot to talk about.  He said he had not seen any report from Mayo yet, but was as anxious as us for the results.  I explained the disorders that the Mayo doc was thinking Alli has, but without knowing the names or some of the specific labs ordered, I couldn't really clue him in all the way.  With both were disappointed to not have the report from Mayo during the time of the appointment.

So, as soon as I get home and walk in the door, I see the big packet from Mayo on the kitchen counter.  I was glad to see it, of course, but how valuable it would have been two hours before.  It would have been great for Allison's doc to explain some of these things to me, so I'm counting on my friends in the medical field to help me out with some of this. 

From the report:

"The ALT was minimally elevated at 54.  This should be repeated in a month by the local physician.  The uric acid was minimally elevated, as well, at 6.1.  The purine and pyrimidine panel was pending.  The creatinine was normal at 0.25 indicating normal liver function.  The ammonia was at the end of the top end of the normal range at 36.  The CK was 234, which is normal, thus indicating that there is no evidence of muscular dystrophy.  The total plasma homocystine was 3, which is normal, thus ruling out homocystinuria.  The acylcarnitine profile was normal, and there was no evidence of a fatty acid oxidation defect."

"The lactate was 1.7, which is normal, but the pyruvate was elevated at 0.36.  She has had variable lactates and pyruvates in the past.  The organic acids were pending at the time of the clinic visit; however the acylglycine profile was available.  Interestingly, the glutaric acid was elevated at 23.73 with normal being less than 15.2.  The lab interpreted this as being possibly indicative of glutaric acidemia type 1.  This is a condition that we had considered due to the odor that they sometimes feel and because of the increased tone.  We will continue to pursue this with the organic acids and also with the fibroblasts culture.  Glutaric acid can also be mildly elevated in patients who have mitochondrial disorders.  She has had a number of metabolites in the past which may be suggestive of a mitochondrial disorder, as well.  The previous muscle biopsy could be sent for respiratory chain testing and further testing with regards to this.  It may be worthwhile to try supplementation with coenzyme Q10 at a dose of 10 mg/kg per day as well as some carnitine while awaiting further test results."

"Allison has a slightly low HVA.  It was not determined that there was nay evidence of a discorder of dopamine metabolism; however, the low HVA may suggest that her tone would be responsive to a small dose of Sinemet.  If her tone is not improving with other treatments, then using Sinemet 25/100-mg tablets at 0.25 mg once daily then 0.25 mg twice daily to look for benefit and wearing off effects over two to four weeks could be tried.  I also had Allison and her family meet with Physical Medicine with regard to other recommendatiuons for her increased tone." 

(There are 8 more pages, but the above is the confusing part to me.)

So what does that mean?  To me it means we are on to something.  I have researched glutaric acidemia type 1, and although there are varying ranges of quality of life, I will take this disorder over many of the others that we have been worried about in the past.  This metabolic disorder is treatable through diet and medication, which is the best part. 

I have our Occupational Therapist looking into the supine stander and the vest and some other gadgets that will help Allison grow and develop and be more functional.  She is going to look at how much insurance will cover and how to go about getting these things in our home.  Looking forward to that! 

I know I missed a lot of school days last year, but last year was about treating the symptoms (covering them up, really) and helping her through sick times while searching for an the underlying problem.  I think I might miss as many days this year, but if those days are spent learning how to control her diet, and get her muscles to work, and get her to catch up physically - I'm not going to worry about my attendance.  This is a very critical time for Allison, maybe the most critical in her life so far.  I am so optimistic right now!  (As I type this she is vomiting bloody bile.)

If you have read this and can offer any information for me, please leave a comment.  Or if you just want to give a congratulatory air high-five - you can comment that too.  Again, thanks to all my friends and family for continued support and prayers.  We are getting close!