Wednesday, November 28, 2007


Boys and Girls, time for another science post. Quiz to follow. I will try and use less "fucks" and more "alleles" just for Julia. Let's see how it goes.

Genetics Counselor called, and test results from August -- you know, the ones that were to take six weeks? -- are back. Everything is negative. Except for one interesting finding: Maddy's mitochondria were rather depleted. Mitochondria, as Wiki says in nice layman's terms, are the power plants for cells, and let's face it, if you don't have a lot, not much energy there to do things like, oh, produce white matter in your nervous system for starts. Mitochondrial Depletion diseases are usually classified when there is 70% depletion, and Maddy was 60%. But most kids with severe mitochondrial depletion are still alive (albeit barely, and maybe two years or so) so who's to say Maddy's wouldn't have been more depleted were she given more time?

Mitochondrial Depletion diseases are indeed autosomal recessive genetic problems, meaning should this be the answer, both Mr. ABF and I apparently carry a recessive gene that when combined that 1:4 time, makes a child whose metabolic system runs on empty. I should say here for the biologically astute that her mitochondria were perfectly formed, and nothing was wrong with them, there just weren't that many. That's important, because moms give individual mitochondria their genetic information, so it means I don't personally carry a mutated problem (and thus, should we decide to have another child, my eggs are just as fucked up as Mr. ABF's sperm, and thus still on the table, provided I still have eggs to put on a table).

Here's the deal: to date, science (you know, big guy? White Beard?) knows of 5 genes responsible for mitochondrial depletion. We agreed to check Maddy's information for these 5 to see if there are evident problems, and this should take 2 months (read: we might know by Memorial Day 2008). There are currently experimental studies on two additional genes, so if the 5 turn up negative, we will enroll in the studies and that will take a while (read: as long as it takes some overworked grad student to run gels for his/her adviser's grant while simultaneously grading a million Biology 101 papers, doing his/her own research for his/her long overdue thesis, and still making that killer party on Friday night. I'm thinking circa Memorial Day 2009).

This would be somewhat interesting news to have. If we knew exactly the gene that caused the train wreck, we could, hypothetically -- if pigs fly and RE's still agree to take me on as a patient, and my body responds to whatever they need to throw at it in it's now advanced age -- get pregnant again using our own genetic material. We could do PGD or CVS or Amnio and pinpoint that particular gene and see if the embryo is ok or en route to Deadsville. And act accordingly.

BUT (and there's always a but, isn't there?): this mitochondria depletion may just be a SYMPTOM and not the disease unto itself. That is to say, Maddy may have had some unknown (most likely genetic) mishap during gestation and her system opted to redirect it's energy to stave off another problem rather than spend time making mitochondria. In which case, all these tests will come back negative, and we'll be no further along the road to knowing than we are now.

But, for now, it's a visible path in the forest of overgrown genetic mistakes, and we've opted to take it. With our fantastically wonderful luck, it will in likelihood peter-out into a dead end. Although, frankly, I'm not sure what kind of luck it will be to find out our daughter succumbed to some insanely rare genetic mitochondrial depletion fuck up. (whoops. Can I cram "allele" in there somewhere?) Or what kind of luck landed us in this preeminent Children's Hospital that just so happens to specialize in metabolic disasters and knows exactly what to do and where to go to find answers. Good or bad? Better to know or not? Jury still out.

So we wait, but not so much sitting by the phone with baited breath. Not as if an "answer" will bring her back. But it will perhaps, depending on the timing, leave us with some options for reproducing again. And I guess that's something, provided they get around to running those gels before I'm 45.


Carole said...

Genetics people tend to be my least favorite. The only answers they had for doesn't look like anything genetic...with a big...'that we can test for'. So...basically they weren't a help. :(

Hoping that they find answers for you and that grad student skips that party and gets his ass cracking! ;)

Searching said...

Being a sciencey person I thank you for your very detailed post. I wish you could lend some of those brains to some of the parents we get around here. It sucks that you are in this situation at all, but how crazy that *maybe* there is an answer out there. So very tempting to just know. I can't believe it took soooooo long and will take so much longer to run the next set of tests. I think everything should have a STAT behind it, but my opinion doesn't count for much. Sending you hugs.

Beruriah said...

I followed even as a non-sciencey person. I can't believe how long these tests take, even as I sympathize with the theoretical grad student. I hope hope hope the answers surprise you with their quickness in coming and that something useful comes out of this waiting period.

Elizabeth said...

Tash, thank you for explaining it so clearly. I'm sorry everything is taking so fucking long. (allele, allele, allele)

niobe said...

If it weren't so tragic and didn't have such difficult implications -- if, that is, it were possible to view this totally objectively -- it would be kind of interesting.

But obviously no-one wants to have their future and their potential children's lives held hostage to some kind of uncertain science experiment.

Julia said...

I am wondering whether depleted means that there are/were too few mitochondria or that they are/were running low on fuel? Because if it is the former, did they mention a random stupid ass possibility that it was just the egg that accidentally ended up with too few to begin with?
I am so not a development person, so I really don't know enough to be shooting my mouth off. But I couldn't help wondering.

Megan said...

It is something.
But how I wish you didn't have to know about all this shit, Tash.

orodemniades said...

Wow, it's like an answer that kind of means nothing...or maybe something.


I can only hope that the results come in far quicker than we all suspect.

charmedgirl said...

i hate when any resemblence of an answer only leads to a gazillion more questions. SHIT.

meg said...

I hope you get some more answers sooner rather than later. It is shocking how long all of this takes though.

Waiting Amy said...

Delurking to wish you luck getting more info. As a sciencey-gal, and former Philly science grad student -- I'm hoping things fall to a dedicated lab. I know of the mentioned "preeminent Children's Hospital" and the university which it is affiliated with -- and there are many there who might be touched by your story. I would say to not be afraid to let these researchers know who you are and how the information is important for your future decisions. While it may not keep that grad student from going to Friday's party, it might make her stay late on Monday to get that gel started.

Thanks for sharing your story.
I miss Philly. :(