Saturday, April 9, 2016

Big Genetic Muscular Dystrophy Test = Done!

Max just completed the genetic blood test for the Neuromuscular Disorders Panel (76 Muscular Dystrophy types). It should take three months to get the results and should tell us what exact type of MD he has. (He did the free Limb Girdle Genetic test through the Jain Foundation -took six months-...since that did not tell which type we are now going for the Big Test.) Max's Dr. thinks that it is a collagen related MD (Bethlem Myopathy) and that there will be a mutation on one of the collagen genes.)

Max needs a hot compress before blood draws to make his veins able to be drawn from. We don't know why this is, but it really works and saves hours of poking him to find a vein. We learned this the hard way a few months ago when a lab couldn't get blood from him. Now we only go to Hershey, and we always ask for a heat pad. 

We followed up with lunch out. We then stopped over at the Hershey Library and they registered us so we are able to check out books there (might as well we are up there so often). I told them that Max is a patient at Hershey, not in-patient, but out-patient, and we are there a lot. They registered us with my Lancaster Library card and my Driver's ID. 
I found some homeschool resources not available at the Lancaster library- one was a unit study type workbook that can be reproduced with a matching CD. There was a whole series of these but Max chose one about The Wright Brothers. They also had some cursive workbooks that can be reproduced- one was for lefties and special needs kids...since Max has completed the Kumon cursive book I needed something else, so we'll make copies and try this next. (psyched as only a homeschool Mom would understand!)
Then we went antiquing next door. Which was really fun. but both kids got tired fast in there although they really liked checking things out...vintage toys sitting next to antique china made me a little nervous, but was an educational moment. There were random cool things to show them like antique phones from all eras, and an old sailor suit. Matt and I used to go to places like this. We need to go back when the kids are less tired, for sure.

All of our adventures were made more interesting by the snow we had today. I almost didn't drive up to Hershey...but I couldn't imagine fitting in that blood test during the weekdays. We've recently started speech, next week is the dentist, and OT, and co-op, and.....and...and....XO 

1 comment:

Zariyat Buksh said...
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