Ok, so we went to Yale both yesterday and today to have some testing done, and a surgical consult done. Yesterday went well. Beyond well. Both Eric and I were elated at how congenial the Genetics team was.
The geneticist took a detailed history of Alvin, including his in-utero period.He decided to run several tests, including basic metabolic, amino acids, organic acids, creatine, and a genomic microarray. That microarray itself tests for around 120 genetic disorders. He also is testing for a condition called Fragil X Syndrome. So, all in all, the genetics team is totally on the ball.
The geneticist has a couple of ideas on what could be wrong, but, he would rather test for everything he can. Just to be safe. He did confirm that Alvin most likely has neurofibrmatosis, but until he hits puberty, we wont know for sure. The NF has nothing to do with his poor growth, constipation, and develop delay. So, while we have one answer, the main problems are still undiagnosed. But,we should have test results in the next couple of weeks.
Now, on to today. It was a wasted trip. The surgeon didnt tell us anything we didnt already know. They want to do a rectal biopsy. Duh, we knew that 2 weeks ago. Eric asked if Hirschbrung's was the only thing they were testing for. The surgeon's response "well, we dont think he has that, but we are going to test to be sure. If its not that, then he is just backed up and needs cleaned out". Um...that is your official opinion????? WTF? So, its either something you dont think he has, or he is backed up. Really? Those are the ONLY two things it could be??? Bull. I have had it with the GI team at Yale. Completely had it.
Right now, we are hoping the genetics team comes through with a diagnosis, that way we dont have to deal with the GI team anymore. I will be calling Hasbro tomorrow to talk to the GI there about everything that has been done so far and see what he has to say.
Edited to add: Alvin will be having the biopsy sometime in the next few weeks.
