Saturday, February 9, 2013

Gene Genie

This week Teeny had her long-awaited appointment with a geneticist.

We'd made the appointment right after her MRI, and at that time it was just another thing we were supposed to do to rule out something very scary. Every step of this whole horrible journey has been suggested to us to rule something out and with every test and every report and every exam, she ends up testing positive for something no one thought she had in the first place, which really, really sucks. Needless to say, I was not especially looking forward to this visit.

Children's hospitals try so hard to be cheery but despite the bright colors, teddy bears, and balloons, they are torture for everyone. The parents dread being there because it's the last place anyone wants to take their child. And the siblings think they're at a party for every other kid in the world but them. I walked in with lead feet and a heavy heart because this was the place where Teeny had her MRI. It was the very Omphalos of bad news. I never wanted to come here in the first place, yet here I was, going back for more. Bee, on the other hand, saw all the sorry attempts at cheerfulness and was excited by it all - and jealous. We walked past the sad hospital shop where plush dolls, games, and kids' clothing were for sale. "I wanna go in there, Mama," she demanded. When I ignored this request, she raced up the ramp, happily checking out the colorful murals and paintings. Then she stopped at the desk where we had to sign in and pointed at the floral arrangements and mylar balloons shaped like Mickey Mouse awaiting delivery to patients. "I want one, Mama," she said again and again. I explained that they were for the kids in the hospital, but, too young to be more than fleetingly empathetic, she was just envious. 

We checked in and the security guards handed us our guest passes. Passes? I remembered my club days, full of guest lists, passes and wristbands. They meant excitement and fun. Who wants a free pass to a children's hospital? This is a party you couldn't pay me to crash if I didn't absolutely have to. I tucked the bizarrely pink papers into my coat pocket and tried to remember where he said we had to go. 

All the way down the hall and then right, walk straight and take a left at the north elevators, but don't forget to stop in the billing office, the last door on the right. We stopped there to register and sign away our lives and our paltry savings. The walls were painted with rainbows and the chairs, each a different color, looked like a box of crayons all lined up one next to the other. There was a huge tank in there full of big, active fish. Our girls were mesmerized, so we were able to fill out paperwork, photocopy insurance cards, and pay co-payments, all without a peep of protest. 

We continued on and our surroundings got less and less happy, less and less vibrant. By the time we made it to the central elevators, the paint was peeling from the ceiling and the floor looked like cheap linoleum. Up seven flights and down another hall and then into a stuffy waiting room with more linoleum, dirty chairs and a TV/VCR setup that was so old we couldn't even work it. It reminded me of an old insane asylum, like the one in One Flew Over The Cuckoo's Nest. We took off our coats, cracked a window and waited. All the coaching I did with Bee about picking out special toys to keep her busy was for naught: the iPad sat in my bag. She wanted nothing to do with it or anything else we'd packed. Teeny was fussy too; I tried to nurse her but she was wriggly and bitey so I put her down to crawl on the floor. I looked around at the dingy room. No toys. No posters, no murals, nothing. I couldn't help but think about how we keep ending up in these crappy, unrenovated wings of very fancy hospitals. As I sat there, I developed a theory that other, more common health concerns get the face lifts, the paint jobs, and the new furniture first. This particular hospital complex clearly threw less time, money, and effort into the offices for the rarer diseases. This waiting area was as depressing as the one at our neurologist's office. I was not impressed.

The genetic counselor was very thorough. She wrote down a lot of information and sketched out a family tree with a plastic tool that had different shapes cut out in it. Squares, diamonds, circles all indicated different ways people in our families were related and scribbles under them were shorthand for any of the health issues we relayed to her. Soon she had woven an elaborate web of shapes and notes two pages wide, yet our information felt woefully incomplete. I was adopted and my birth mother was adopted as well, so I know next to nothing about my genetic makeup. My husband's birth father passed away when he was much younger; his siblings have a different biological father. There a lot of unknowns for both of us. Still, we both knew enough to say emphatically that neither of us has or had anything like cerebellar hypoplasia in our genetic makeup.

After what felt like forever, we saw the doctor. Both kids were hot and tired and cranky by this point, but he was in no hurry. He talked for a long, long time, slowly and in a hazy monotone. After a while it took tremendous effort to listen because my inner adolescent heard nothing but Bueller... Bueller... Bueller while my outer mama was being used like a jungle gym with two overtired and undernapped kiddos clinging to me for dear life. 

It's a good thing I'm pretty well read about our situation because, nice as he was, it was hard to listen to this guy. When I am not fully engaged in a conversation I'm having, I start to notice quirks in people's speech,  grammatical errors, tics, or phrases they say over and over. I get so caught up that I barely absorb a word they say. This guy was a big fan of "Let me put it this way," and "Let me just say this." With the unbearable heat and the squealing children, I found myself counting those phrases before I handed Bee to Johnny and suggested they go investigate the vending machines downstairs. I jerked myself awake and attentive again. Luckily he hadn't said much I didn't already know, so I was able to be as tuned out as I was and still follow the conversation and ask relevant questions.  And it's a really good thing that I am practicing patience and acceptance around this whole issue too, because what I did glean from the geneticist is that he has no idea what's going on with Teeny. Just like everyone else. 

This is what I understand right now, in layman's terms: Hypoplasia means an organ is under-formed or underdeveloped, so cerebellar hypoplasia means a small, underdeveloped cerebellum. Teeny also has a short pons, so technically she has pontocerebellar hypoplasia. Cerebellar hypoplasia (CH) is also the name of a genetic disorder, the primary symptom of which is a small cerebellum. This neurological impairment seems to be far more severe than what Teeny has.  Pontocerebellar hypoplasia (PCH) is the name of a genetic disorder that is so grave, so truly terrifying that I don't even want to type anything about it here. Go ahead and Google it if you are curious, and read about the six or seven different types. They are all horrific and, ultimately, fatal in infancy or early childhood. Both CH and PCH are accompanied by a wide variety of other issues, essentially none of which we see in Teeny at all. Its possible that she has a (relatively) mild case of one or the other. But while no one wants to commit to anything without doing more testing, I get the sense that it's probably neither CH nor PCH.

Which is a good thing. If it's not genetic, it was caused by some static event, or "insult" as the geneticist called it. Everyone seems to agree that whatever it was happened in utero, mainly because I knew from the moment she was born that she was different. So then, what was it? The MRI does not show evidence of a stroke. If it's not genetic and it's not a stroke, there is a range of other possible causes for this insult, but it's not likely that we will ever know. But it doesn't really matter. What matters is that a static event, whatever its nature or origin, means nothing is changing, and that whatever Teeny has is not progressive or degenerative. Because of the brain's incredible plasticity, it means she has a chance at a full recovery. We don't know how likely or unlikely that would be, but it's possible. So obviously this is the least horrible scenario, and the only way we can be sure this scenario is ours is to do the extensive genetic testing that rules everything else out.

We have one team of doctors who think it is a static event but want to do the CH/PCH panel just to be sure. We have another team who thinks it *is* something genetic but not CH or PCH, rather something related to something very obscure and complicated that I don't really understand. If it's the former, as I said, the prognosis could be positive. Should it be the latter, I have no idea what we'd be looking at.  But of course I want to know whatever is knowable. Who wouldn't? 

The counselor and the doctor said we had a lot of options, so we agreed to do all the genetic testing possible. I consented to having Teeny's blood drawn, knowing that she is not always an easy patient. We made our way back to the happier part of the hospital, counted brightly lit moons and stars on the elevator ceiling, and then stopped for a few minutes at the four-foot copper apple made entirely of pennies. Climbing on and around it seemed to recharge the girls' batteries. But moments later we were at the mercy of the phlebotomist, who looked less than thrilled to see us. And Teeny protested loudly, but she was brave. We were all very glad that we got to go home after that.

All done!

The counselor called me a day later. I was home with Teeny in the middle of a PT session but I picked up anxiously. She told me to get a pen and then said that everything we wanted to do all together at one particular lab would be more than ten thousand dollars. I could feel myself turn pale and I almost dropped the phone. The CH/PCH panel and one of the others we wanted to do are both apparently some kind of insurance exception, she explained. This particular lab is notorious, she said, and it doesn't even bother to bill insurance for these panels because they won't pay out enough to make it worth their while. There were other options, she assured me, and she was going to do some more research on some alternate panels and different labs and she'd get back to me. In the meantime, she said, she wanted us to come back on Monday for another blood draw, to do yet a different and more basic panel on Teeny's chromosomes that might indicate problems. This one would be covered for sure. I acquiesced and hung up the phone.

I was stunned. Ten thousand dollars? And $3,975 just for the CH/PCH panel - the most crucial one. Are they kidding? I always pitied the parents who had to hold fundraisers for their kids' health issues but this is the first time I've been faced with a bill like this myself. What are these labs and hospitals thinking? Don't they know how difficult this is for the families involved even without adding this insult to injury? What about the fact that we are a one-income family? Don't they know that I have private preschool tuition to come up with? A mortgage to pay? Get in line, I said in my head. 

As I relayed this new development to Johnny, I wasn't sure how upset to be. Bottom line, if the genetic counselor can't find us an alternate, the testing is going to be cost-prohibitive. And that is what it is. Of course this kind of information will be helpful in determining a course of action. If we're talking about PCH, it could be life or death. It's very serious stuff. But I don't know. If we have to, we will find a way to make the testing happen with or without the help of insurance.

In the meantime, it got me thinking about genetics and how in this area, my life has been one giant question mark. So when I learned about a website that for $99 offers genetic testing via a mail-order spit kit, I signed myself up. A pal of mine did it recently and learned a lot about his ancestry and various medical predispositions. Who knows what it will uncover about me. Am I really Jewish? WillI die of a stroke at an early age like my mother? And maybe, just maybe, it will show some addition or deletion in a gene that might be in some way connected to neurological impairment. I doubt it, but you never know. For 40 years I've been in the dark, so I'm curious -- and a little scared -- to see what light will be shed.

And what if I ordered another spit kit... for Teeny? 


  1. I realize how draining everything involving insurance is, but I wonder if there is some way to get them to cover the test, particularly since it is so important. Is there someone in human resources at your work or someone who deals with the insurance policy who can help you contest the lack of coverage for this test? Or perhaps your doctor could write a letter explaining the reason you need to have the test done? Or the New York State Department of Health could possibly help in some way?

  2. Hey there Pal! I saw the 10K for teeny post on facebook and Keri and I are happy to help. Keep strong and persistent, as you've been. Teeny is lucky to have you as her mom.


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