DS had his Metabolics/Genetics appt on Thursday, they finally got his results back from the CPT II genetics screen - negative. The specialist was so sure he was right (so was I). He's been studying ds' case for 18 months, and hasn't had any more idea about what ds has. And he's high up in his field - officially stumped. DS didn't take it very well. He's still very silent about it all - his words - I just want to know wtf is wrong with me. It hurts that he thinks he's flawed, and I'm sure that part of that is true hurt along with teenage hormones. I get it. It's been 14 years and no answers. Mine is, keep calm and carry on. What the hell else do we do?
His next solution is Next Gen sequencing. Since the machine is so new to our hospital, ds has to get approval to be part of a study in order to have the testing done. Even if they would let us pay out of pocket (they won't, yet), it's too expensive at this point. So, we may have it done by December, or, in the next couple of years. And there's no guarantee that they could match with a known disease. So, for the moment, we're waiting. Again.
Sorry for the vent - I'm kind of tired of appointments with no answers.