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.

Dealing with disdain, diagnoses, dreams and a dissing doctor

Hippocrates

"...And that warmth, sympathy, and understanding may outweigh the surgeon's knife..." - From The Hippocratic Oath

The metabolic expert whom we recently contacted, at the suggestion of the ER doctor who recently treated C., urged us to find out the results of the full exome sequencing of C.'s blood specimen.

He said that several metabolic disorders, not among those we already tested for, would be included in full exome findings. They include urine for creatine and guanidinoacetate, blood acylcarnitine profile, plasma transferrin isoelectrophoresis for CDG (congenital disorders of glycosylation) and muscle biopsy for mitochondrial respiratory chain analysis.

Now we submitted C.'s blood for that testing over a year ago. That was in the context of a research study being conducted at a US university. That meant it was free of charge for us and it sounded like a steal. But we've now learned that waiting over a year for any results is an absurdly long time. 

So the Hubby and I girded up our loins and contacted the neurologist. The girding was because this woman, who is also a professor (a title she uses fastidiously), has a track record of being nasty and arrogant.

Well girded, we first emailed her and learned that she was on vacation. On the date given for her return to work, we called her office. We were treated to an earful from her equally nasty and arrogant secretary.

"Don't call anymore", she told me. "The doctor won't speak to you. Send her an email."

So we dutifully resent our original email. Here is the professor/doctor's prompt response:

"We've received partial results and the tests have not been completed yet. It was clearly explained to you that when tests are part of a study there is no expectation or commitment to their full completion. We are at the mercy of the researcher.  If there will be any significant news we will notify you."

Here's the way we read that (correct us if you think we're wrong):

"Crawl back into your hole. We may contact you one day with results. But, on the other hand,  you may never hear from us again if in our great wisdom we don't deem the results significant enough to relay to you."

Oh, and needless to say, she in fact never "clearly explained" to us anything of the sort. We fully expected to receive some results.

There are plenty of articles out there (examples) about doctors who lack compassion for their patients, spend too little time with them,  don't ask them open-ended questions, rarely sit down with them and avoid any physical contact with them.

I'm not even dreaming of anything like that. Just don't be nasty, is all I ask.

I couldn't find any articles about doctors like this professor doctor we have had to deal with.  Hopefully that's because they are an anomaly, as they should be. The last thing that anybody seeking medical attention about a child deserves is verbal abuse. And besides there is that Oath they all supposedly took.

We have washed our hands of this doctor. There's a neurologist with whom we have a slight personal relationship. The Hubby called her yesterday to share our predicament. She was very sympathetic and even offered to try and arrange full exome sequencing for C. with health fund subsidization. I'm skeptical she'll succeed but you never know.

Hey, is that the light of a diagnosis I see at the end of the tunnel?

[Diss: To treat someone with contempt. Originally Black rap slang, short for disrespect.]