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.]

Happy days are not here again

Preparing C. for a fluid drip in the
local hospital emergency room

You can only avoid the ER for so long.

We'd succeeded at it for at least 15 years (neither the Hubby nor I remembers the precise number). But yesterday, after C.'s school called to ask us to bring her home early because of sleepiness, we realized that our DIY tactics weren't working.

She'd had a rather good morning, fed herself quite a few spoonfuls, walked nicely for a half an hour, wet her diapers a couple of times and seemed out of the woods. But shortly afterwards, during her hydrotherapy session, she took a turn for the worse.

At the hospital, we learned that her blood pressure and body temperature were low and the guilt set in. How could I have postponed taking her to the hospital for so many days? I confess that my selfish dread of getting stuck there for days had definitely been a factor.

But soon the doctors adjusted their diagnosis: her dehydration was actually mild and wasn't the sole cause of her extreme, puzzling lethargy.

That was confirmed when twelve hours of IV fluids did not revive her as was hoped. Her neurologist, guessing that the anti-epileptics could be involved, advised lowering the dosages of benzodiazepine (Rivotril) and the cannabis. We had been reducing the Rivotril at the rate of one drop/day every week. But she now advised dropping it a further 5 drops/day in one fell swoop. And the cannabis, to be dropped by 20-30%.

Both moves sounded awfully drastic to me at first. But I'm implementing them and hope there's sense to them. What do you readers think?

Just to spice up our near-24 hour stay at the ER, one doctor told us, after listening to C.'s heart, that she heard some sort of abnormality and an ultrasound is advised for follow up. But by morning, that suspect sound was gone and the second doctor in ER told us that she had consulted a cardiologist who said such abnormalities can be temporarily caused by dehydration and don't warrant concern or treatment.

The incident reminded us that no doctor had listened to C.'s heart in over a decade.

The ER doctors also asked us whether we'd ever pursued metabolic disorders as a possible cause for C.'s disabilities. While we do remember their brief mention  many years ago, they were never pursued, at least not doggedly. At our request yesterday, one ER doctor gave us the name of a local metabolic specialist whom we now plan to contact.

Could it be we overlooked the true culprit all these years while we focused on the the neurological and genetic options?

I've seen metabolic disorders mentioned frequently lately in the context of "medical child abuse" and know that it's a tough and unpopular diagnosis to arrive at. Did the neurologists steer us away from the metabolic world because of  professional bias?

In any case, these are not happy days for C. and us. All my energy is being devoted to keeping her fed and hydrated while she remains weak, minimally responsive and seizing more that usual.