Friday, October 30, 2015

A smoking gun or a stab in the dark?

We brought C. for her scheduled visit to a metabolic specialist this week.

He was a very atypical doctor in myriad ways. For starters, he spent over an hour with us, talking and listening. He was pleasant, sympathetic and complimentary of us and even of C. He said she is so beautiful. I don't recall another doctor ever telling us that.

He listened to us tell him C.'s medical history, read the reports we brought and had me spilling my guts much to the Hubby's chagrin. I volunteered the details of our Tragedy II about which I never blog because it would end my anonymity. Can't risk that.

He said that we've covered most bases treatment-wise and testing-wise. He approved of our use of cannabis and weaning off Rivotril. He noted that we've already done a slew of genetic and metabolic tests.

He mentioned the muscle biopsy which we passed on many years ago. Googling it now (something I couldn't do when it was suggested some 18 years ago), I learned that it's "an invasive and costly procedure"  in which "A small piece of muscle, usually the size of the end of our little finger is removed from the upper thigh of a patient for this testing...[which] leaves a scar several inches long.) The testing is complicated and takes many weeks to complete.

In any case, this doctor believes it's highly unlikely that C. has a metabolic disorder because her condition is not deteriorating.

We're left with the option of doing the full exome test which is currently beyond our means. Besides, this doctor thought that we may have actually found the genetic culprit in a test done two years ago. That test, the CMA, redisclosed that both C. and I have a duplication on Chomosome 17.  The geneticist dismissed it as irrelevant to C.'s disabilities because I have it too. But C. was also found in that test to have a deletion on Chomosome 2.  This metabolic doctor believes that either the two anomalies combined to make C. as ill as she is. Alternatively, the duplication alone, coupled with the "insult" she suffered (that's how he refers to her MMR vaccination and its aftermath), could be the cause of her nightmare.

Either way, he believes that therein lies, to quote him, "the smoking gun".

He'll be drawing up referrals for a few more tests in the hope that our health fund will foot the bill. He also promised to write to Nasty Neurologist who has "partial results" from the full exome that was done as part of a research study - results she didn't consider it our right to know because in her opinion, they "aren't significant".

He said he will approach NN in a non-confrontational way and even told us the lines he'll use. Somehow, I can't imagine him being confrontational even if he tried.

The photo I posted above is C. after her visit to the kind metabolic specialist.


Elizabeth said...

He sounds amazing. I am so glad -- truly just so glad -- that some of this uncertainty is in his hands. How good to be taken care of, for a change, no?

The Sound of the Silent said...

Yes, it was uplifting to encounter a doctor with that rare combination of expertise and compassion. But his hunch that I may be the source of C.'s genetic anomaly has been a hard pill to swallow. And its disturbing corollary, of course, is that my other children, though asymptomatic like me, may also have inherited it.