Carnitine PT II deficiency....poss. dx?

I just received a letter from our genetics/metabolics specialist, summarizing their visit, and identifying (finally) what they think L may have and what they want to test for. We have been waiting 13 years to finally say that they are confident with their dx and can confirm with test results. Let me also add that they had initially given the dx of polymyositis, they could never 100% back it up in clinical testing, but he exhibited the traits.

L has had problems with cardiomyopathy, hydrocephalus (don't know if this is related), asthma, severe muscle weakness, episodes of high ck (his worst was at Christmas, 61,000, it almost killed him) associated with the breakdown of muscle tissue (rhabdomyolysis), muscle pain, myoglobinuria (it wrecked his kidneys, he's since had a transplant). He's also dyslexic, again, don't know if this is related, it is def. inherited from DH's side (fam history). His episodes seem to be triggered by infections, but his latest seems to have been triggered by a medication he was given to counteract bone loss. From what I've read, there can be other triggers too, and he's had episodes where there have been no apparent triggers, but now I know what to watch for.

I am a little sad that this has taken as many doctors as he's seen 13 years to point in this direction, and I think it will be frustrating if this too comes up as a no. But this fits better than anything they've explored before. I suppose I should add that he also has lacked growth (height wise) since he was 18 months (he's gone from a steady curve 110th%ile down to 10th%ile), and his weight is all over the place (97th%ile).

Has anyone had experience in this area, treatment, diet change, outcomes (does this get better)? This worries me because after all the carp he's been through, I really hope he has a chance at better health and a long life. Sorry I wrote a novel!