Thursday, September 27, 2007


Before I go all Quincy, M.D. on your ass, I need to deal with a few business items. I have a few things to iron out in this blog business before I get back to regularly scheduled programming. (Don’t touch that Bat Dial.)

If you blog it, they will come. Thank you for visiting, reading, and commenting –- all, uh, dozen of you? No, really, I’m floored (and a bit mortified, no pun intended) that I don’t know a few of you. I started this as a journalistic experience with wild hopes of finding people who had experienced similar tragedy. And lo, similar tragedy ensues. I was actually rather taken aback that people were commenting, I didn’t really know what to do (!) (insert blog virgin joke – you’d think I had never read one of these things), but I’ll try from now on to respond to you in comments if I get a few moments. (I didn’t mean to be rude and ignore any of you.)

I can’t tell you how sorry I am to hear of the many, many losses mentioned in the comments. I’m reminded of the memorial service I went to at Children’s Hospital in April for those who had died in the last six months (can you even believe they do that twice a year???) and was just overwhelmed by the heavy thick grief hanging in the room. And then the slides started. Far too many children to comprehend, but the babies – oh, so many babies. Sometimes I wonder how we continue to exist as a species with all the blogs devoted to miscarriage and loss.

Speaking of, I’m a newcomer to this party, but I’d like to start a column of death and destruction on the side – A Legion of Doom if you will (and if no one has dibs on Bizarro, he’s mine). I got so overwhelmed by the infertility and miscarriage blogs that I eventually whittled my way down to the big three in order to keep up with some other stuff in my life (that Wonkette slays me and I need to keep up with the Beltway dish), but would like to start keeping tabs on people like me. I've haphazzardly started my way through Stirrup's List, but haven't had time to peruse all and see that a few have been left unattended for a while. So if you pop Zoloft and write one of these things or maybe just read one that you think would toot my fancy, please let me know and I’ll put you over there. And then I’ll cry over your stories and photos and share in your pain, a process I’ve already started in earnest. I’m so glad to know I’m not alone in this ring of hell, but so sorry that so many of you are here with me.

As for today’s item of interest: My grad school advisor used to crush me editorially on not starting at the beginning of a story, and taking for granted that everyone knew what I was talking about. Boy, I can see her madly circling this page right here (and even seriously pausing to put a big ol’ red ring around the word “fuck” and writing in the margin: “Explain”). And here I have a lovely reader who’s willing to spend some free moments on her tough-as-hell, unsung- hero-of-a job to research some medical obscurity that I haven’t even really fleshed out. I heart you. So here, for your clinical reading enjoyment, is the Reader's Digest Condensed Version of Maddy’s wealth of issues which they presume arose from a genetic autosomal recessive disorder.

When I last met with Children’s Hospital I sat ready with a pen and paper and they breezily told me “not to worry!” they’d type up and send me some notes on the meeting. That was seven weeks ago. I’m trying not to run to the mailbox every day, but I was putting off detailing the medical here until I had some, um, details. So I can tell you what I can decipher in the autopsy, but things like the actual name of the bizarre protein in her system will have to wait. If you are truly interested and have a specific question about terminology, please ask. It’s probably in the report, and I just didn’t realize that it was important. Here’s the Big Stuff as I remember and read it:

Brain: Symmetrical, all parts there, patterns “normally formed.” HOWEVER, the brain literally fell apart during examination. Maddy’s White Matter was liquefied. In medspeak, from what I can gather, this is called “leukoenceophalomyelopathy.“ No, really. And if you google that you get a lot back on Rottweilers. (Omen, anyone?) There are some other good quotes from the brain examination; one I find particularly endearing is,“The cerebrum is a disaster.” There’s some chatter about Neuronal cecrosis, gliosis, yada yada yada. The pathologist concludes the brain exam with the pronouncement, “the clinical and pathological features of this infant’s illness are intriguing.” You can just hear the House writers cracking their knuckles. This sentence is followed with “It would appear that the baby had problems in utero.” NO SHIT! Glad we cleared that up. What’s next?

Eyes: Maddy was born with glaucoma. The eyes were sent elsewhere for exam, so I have no other information.

Heart: Enlarged, big time. For a six pound baby, her heart weighed as if she was 18 months. But, it was otherwise more or less normally formed – some asymmetry I gather. I’m a bit confused as to why this didn’t pop up on an ultrasound unless the muscle itself doesn’t present itself in an ultrasound. Or, it began enlargement in earnest after 32 weeks or so, the time at which I had my last ultrasound. Although the doctors wholeheartedly agree that Maddy’s host of problems and the severity thereof were caused by something shortly after conception, it is entirely plausible that many of these issues didn’t present themselves as such until much later. For instance, her thyroid was way underdeveloped, measuring somewhere in the 24 week range, and some of her bones apparently stopped growing around 34 weeks.

Bizarre, extremely rare protein found in system post mortem. Apparently this makes the metabolic people quiver, but all of the other standard metabolic tests are turning up negative. Protein sent off to Dutch guy who I gather will look at it and Maddy’s DNA when his grant money allows so I'm not holding my breath on a speedy response. It is nice, though, that he pays attention to such wacky stuff that affects so few kids.

While alive, Maddy had seizures, blood pressure problems, and edema (people are writing off the latter due to the obscene amount of stuff they pumped into her).

Before we removed her from support, we gave consent for the doctors to perform a tissue biopsy. This needed done while her heart was still beating, and means that any time they’d like to “grow” some genetic material, they can. They can send it to Holland now, and they can have it 10 years from now should the field of genetics advance beyond cloning yet more corn and cute cows.

Frankly, what amazes me is the amount of stuff that was right in this train wreck. The pathologist goes on about some syndrome that everything seemed indicative of, and then adds, “however, the lack of liver damage is unusual.” In another section, the report lists some more genetic possibilities, such as the lovely-on-the-tongue Hallervorden-Spatz syndrome, but then concludes “But all are associated with iron storage in the central nervous system . . . which is not present in this patient.” Despite even more blather on more syndromes to consider, the pathologist admitted “but this patient lacks many of the features of these syndromes.”

More to the point, “there is no evidence of intrauterine infection.”

For some reason what I find especially rough to read (as if any of this is a fun exercise) is the description of Maddy's external appearance as she lay there, as I remember her. I can almost smell her beautiful baby smell when I read “Scalp hair pattern shows a single centralized clockwise swirl,“ as I imagine running my fingers across her soft, fuzzy head. In contrast to the Brain portion of the story where you could just sense the doctor's building frustration as s/he reached the end of the Roget's entry on synonyms for “wildly fucked up,” the pages here describing her outward self are replete with poetry: “normal,” normally shaped,” "normally placed,” and my favorite, “unremarkable.” I substitute “beautiful” as I read, knowing they probably thought so too.

Google away, kids. Let me know what you find. I’ll join you when and if I ever get this damn write up with the protein “name.” And allegedly the mitochondrial results should be in soon too.

1 comment:

Cathy said...

I have read a little of your blog and I read this post. This sounds very similar to a very rare genetic disorder that a student I know has - and it is extremely rare, and on top of it, it is extremely rare that he is still alive.