Back in the Life of “Undiagnosed” & Genetics -101…

 Jeremy was diagnosed with severe FG syndrome back in 2005 which at the time was a clinical diagnoses and one that he in fact did fit.  In fact there were 5-6 categories and Jeremy had 5-6 of the 7 characteristics of each category.    They since have researched and found at least one gene associated with FG syndrome, the MED12, which Jeremy in fact does not have.  I’ve known this for many years because we participated in a research study for FG and that was where we found the change on his L1cam gene located on the long arm of the Xq28 chromosome.  That is the brain gene, so I thought that could possibly answer a few questions.  Jeremy had spine surgery, complications, sick, then our local geneticist left so the issue was moved to the back burner.   We now do Tele-Genetics in Tulsa with a Geneticist from Arkansas Children’s Hospital.  I have met him on several occasions through St. Francis Children’s at a few conferences and the Heartland Genetic Conference this past April.  I thought this would be a good time to re-visit the issue to see if we could possibly get an answer, I’ve often wondered due to some issues Jeremy developed.  Dr. Schafer doesn’t feel Jeremy has FG and further research the change on his L1cam gene was so far down, like a connection of a connection that it’s not significant to Jeremy so that was good to know and in fact if we hadn’t been doing the research study that would have never been caught on a test.  So, Dr. Schafer is going to take Jeremy’s pictures, his characteristics and present to a board of 25 Geneticist to see, does anyone have or had a child similar to Jeremy, what do they think as Dr. Schafer has never had a child similar to Jeremy and he is stumped.  We are also getting approval for a fairly new test available the Whole Exnome Gene Sequencing this will go into a further level to see if there is any mutation/deletion/change on any of Jeremy’s Chromosomes.  We have to wait to see if insurance will approve the test, then it can take 6 months to get any sort of answer if we get any sort of answer, that is also a possibility.  I’m back to thinking we are going to name our own syndrome but that is life in Jeremy world, so we wait.

Jeremy finished 8^th grade and is out for the summer, he needs a break and some rest.  We have a few things planned, he will attend Camp Barnabas on June 7 and he will have so much fun.    We are just going to enjoy summer break....