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