Got a call from the Endocrinologist. Most of the tests he ran came back "Normal". That's good news, just not very helpful in pointing us in the right direction. One DNA test is still pending.
But one test did show something abnormal. Not sure how helpful it is yet ... I'll be having an appointment next Tuesday with the Pediatric Metabolic Geneticist and she should help shed some light on it.
So here's what we know. He for sure has Merosin Deficient Congenital Muscular Dystrophy. That explains the vast majority of his symptoms. There are just a few (like the progressive nature of the smooth muscles that are being affected) that cannot be as a result of the Merosin. So we're hunting for the cause of THAT. And we think it metabolic and maybe related to mitochondria.
With that in mind, the test showed a very low amount of carnitine in his blood. There are two things they measure, Free and Total. His was about 30% low on both.
From what I can find so far ... Carnitine is what helps digest fats. (Here's a link ... http://ghr.nlm.nih.gov/condition/primary-carnitine-deficiency) Ironically, that link is produced by the NIH ... which is the group that has been collecting all of Manny's reports, etc. for an evaluation in January.
If this is at the root of his second problem ... we may be on to something. From what I'm reading, it DOES make a lot of sense. It can cause GI dysmotility. It can be triggered by periods of fasting (like when his PICC line cracked and he collapsed quicker than he should have).
On the other hand, his carnitine level could be just a "red herring". Like it might be low because he's on TPN.
The Endocrinologist suggested that they add carnitine to his TPN solution. They passed the suggestion along to the GI as well as to the Geneticist.
What does this mean? It MIGHT mean we are on to something. It's certainly not a quick fix but even a hint is very hopeful these days. It's a HOPE that he might be able to eat again! And THAT is worth fighting for.
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