Start Spreadin' The News... Part Two

Teeny had two very big appointments last November. The first appointment was with a neurologist at Harvard and Mass General who specializes in cerebellar dysfunction. It took me two and a half years to get this appointment. Back in 2012, post-MRI, I read a bunch of medical articles about cerebellar hypoplasia and saw his name listed as author over and over. I felt like he might help us understand how Teeny learns, since his research led efforts to prove that the cerebellum does more than control motor function. He believes that it plays a role in learning and cognition. This doctor is mostly a researcher who rarely sees patients and even more rarely sees pediatric patients, but I felt that if I could just get him to look at her MRI, he would be interested. So I called and I emailed and I called more and I emailed more and I was on the verge of giving up when I heard an interview with him on NPR here, and this part was like saying Teeny's name:

"Research .... supports the idea that the cerebellum really has just one job: It takes clumsy actions or functions and makes them more refined. "It doesn't make things. It makes things better," Schmahmann says. That's pretty straightforward when it comes to movement. The brain's motor cortex tells your legs to start walking. The cerebellum keeps your stride smooth and steady and balanced. "What we now understand is what that cerebellum is doing to movement, it's also doing to intellect and personality and emotional processing." 

This re-ignited my spark, so I started calling and emailing again... and finally, finally, we got an appointment. This is really great news, right? YES. And it was also terrifying. Johnny was worried that he would tell us that we caused this, that we were somehow too rough with her and hurt her brain. A tiny part of me heard the naysayers in my head saying that her homebirth was what caused it, even though I knew better. Deep down I was worried that he would tell us he doesn't know what caused it or how we can help her. I didn't share Johnny's worry because I know we didn't cause it, and he didn't share my worry because he knows that with everything we do with her and for her, we are helping her already. So we had to agree to set aside our worries and just show up with an open mind and hear whatever he had to say. 

And what he said was that Teeny has genetically caused pontocerebellar hypoplasia.

Do not Google this unless you are prepared to see something horrible. The bad news is that PCH is devastating. It's rare. It's often fatal, often in infancy. The good news, if there can be good news when your child has PCH, is that this doctor believes that she has a new variant, and that this new variant is not neurodegenerative but rather neurodevelopmental. That is fancy for the fact that when Teeny learns a skill, she keeps it. She is more capable than she was at birth, where most kiddos with PCH by contrast lose abilities as time goes on. He said there is no question about her diagnosis from her scans but that she has more to teach us all because while she and PCH2A kids (kids with the most well studied variant) have some symptoms in common, such as being small and borderline (or not so borderline) microcephalic, being very sleepy as newborns and hard to rouse, having issues with tone. But where most PCH2A kids have terrible seizures, difficulty with talking and walking, and none of them eat on their own, Teeny is completely different. He was very, very surprised at her abilities. But he didn't really know what to make of what he saw. In short, after three hours of testing and discussion, we left feeling confused. We got a lot of information but none of it actually changes anything. Now we know there is so much to do, but there is nothing to do. We are doing everything right, but there is no cure. There is no way to know how she will do, since most of the children who have gone before her have already died. He said that just by looking at her scans and at the exact areas of damage to her cerebellum, he could predict some areas of strength and some of weakness. He said she could start to seize anytime. But he also said that it was his firm belief that he could prove this was autosomal (genetic) and recessive. He felt Teeny's story has not yet been written, and I asked him if he would be the one to write it. He said yes! I asked him if that meant he would be her new neurologist and he said he would be delighted. We have a lot to learn from him and my hope is that he feels he and medicine in general have a lot to learn from her. 

So great, now we know that I didn't cause it and Johnny didn't cause it but in reality, we both caused it because apparently we are both carriers of this terrible thing. How can that be? PCH is so rare that there are maybe 100 cases worldwide, yet he -- this person I really believe is as close to a soulmate as one can possibly have -- and I -- this adoptee with a hodgepodge of unknown genetics --  came together and made this happen? That is too much for me to wrap my head around, so we'll just leave it there for now.

Her second appointment was for a neuropsychological evaluation, which was done the following day by a colleague of the neurologist also at Mass General. We decided to do this to help us understand how she learns and what her potential could be. Schools like these evaluations to help make their admissions decisions because the test evaluates school readiness and, somehow, cognitive potential. It also makes recommendations for educational settings and related services. This test is a very big deal and usually a very expensive deal. When we had it scheduled in New York, we were quoted upwards of $6,000 and no one took insurance. But because this one was set up in conjunction with the neurology testing and because this particular neuropsychologist happened to be in my network, we paid nothing. Not even a co-pay.

The neuropsychologist and her assistants completed the testing in a few hours; it resulted in fourteen pages of confusing scores, recommendations and other details. The document does not do my daughter justice. She is so much more than scores and observations and a litany of things she cannot do and a short list of things she can. And at the same time, the neuropsychologist and those who worked with her that day did have some insights into her abilities and her potential. As much as I hate to admit it, the document does in some way describe her. The bottom line is twofold: one, PCH is so rare and strange that her strengths and weaknesses are a little all over the place (so, for example, she tests very high for "school readiness" but very low on visual spatial skills) so her scores are essentially meaningless because their pattern is that they have no pattern, and two, because of her strong social, emotional and verbal aptitudes, there is no better setting for her than an integrated, supportive classroom.

Which is exactly what we knew all along.

The Results Are In... It's All In How You Look At Things

About two weeks ago, the call that I had been waiting for finally came. After weeks of despair followed by weeks of fundraising excitement followed by months and months of silence, it came. And I was caught off guard even though I'd been expecting it. It came very late one sticky, sweaty, easily 98 degree afternoon after a truly shitty day at the office and I was racing through midtown trying hard to concentrate on other things when my phone lit up. I recognized the number and I ducked into an air conditioned sports bar in the West 30s and locked myself in the bathroom - the first thing I thought of, somewhat absurdly - and I plugged my ear with a finger. "Hello? Okay, yes, I can hear you now."

The genetic counselor, a thoughtfully sensitive woman with an unexpected and very thick Scottish accent, told me that the results of the comprehensive, impossibly expensive genetic sequence test indicated absolutely no abnormalities in Teeny's genetic makeup. None. This is the best news we've had since Teeny's MRI last November. It's the result we wanted. And yet I couldn't help myself; I burst into tears.

The counselor said the cause of her issues was therefore probably one of two things: either a static event in utero that we may never understand or something so rare or subtle that even the gene sequence test is not sophisticated enough to detect it. The latter was unlikely, she said, but all the same the geneticist's office wanted to see us annually to evaluate her for any new testing that may become available over time.

The good news about the static event hypothesis is that whatever happened to Teeny happened once, in an instant, and it won't get worse. Some kind of random illness or injury would not cause a degenerative, progressive disease. With a case like this, some -- or a lot of -- recovery is possible. And Teeny has already shown so much progress that if this our reality, it means things can only continue to get better. It means there could be no ceiling to the success she can achieve. This is what our neurologist suspected all along. There are other schools of thought, and I'm still waiting to hear from the various cerebellar experts who have been in intermittent contact with us over the past six months. They have different theories that we may at some point explore. But for now, I'm going with the static event.

I think any parent of a special needs kid would understand why this news made me cry. I think maybe we measure our milestones differently than other families do. It means the long hard road is going to be longer. Maybe not harder, but definitely longer. And there is no map for this road, no milestones to look for to gauge Teeny's progress. So even though I am over the moon thrilled that we are not facing a diagnosis of genetic pontocerebellar hypoplasia, deep down I never really believed that was an option anyway.  And now because we don't have a true diagnosis, determining a prognosis is going to be much harder. Just thinking about it exhausts me, because it means that I have to accept that there will be no acceptance. There will be no rest for this weary family. I put my best face on when she's struggling because if I can't do it, how can I expect her to do it? Every single day I have to find the energy to be a cheerleader for my girl. Every day I have to be her advocate. Of course I do this, and I do this with all the love a mother can have for her child. But it's an understatement when I tell you that it's really, really draining.

I am a doer, a fixer. I ponder things until I come up with potential solutions. I have no patience for the uncertain. I don't like messy. I do not sit well with discomfort; I rationalize and analyze until I come up with an explanation that makes sense to me. I can handle anything as long as I feel I have all the information there is. I can't bear to be in the dark; I just don't know how to not have all the answers. And of course I always feel that it is my responsibility to fix not only what is broken in my life but also in the lives of those I love; it's like I simply cannot rest until I find a solution. But life doesn't work like this. It's taken me 40 years to understand that I can't fix everything and that not everything has an answer. And when I look at my child, this beautiful girl who is so present, so aware, so there, and I can't unlock her from the cage she's trapped in against her will, my heart bursts. At nearly two, she is frustrated sometimes beyond the point of consolation.

She tries so hard and makes such slow progress that tiny things can set her off. There are times when she needs constant reassurance and can be unbearably clingy to me, calling mama mama mama and holding her arms out to me, as if she's asking me to rescue her from this imperfectly formed brain, this weakened body. I can't stop her cries. I can only hold her as she screams and tell her I love her, that this fight is worth it, that she can do it. These are the hardest parts of my day, but I keep a brave face for Teeny.

On days like this, I maintain my optimism and hope by looking at how she's blossoming. She has new words: stop, step, mine, no. A few months ago we'd ask her to point to her sister and she couldn't. Now I say "Where's Bee?" and she turns and points right at her. She points to Daddy and to the cats and a half dozen other people and things when you ask her to. She can bring favorite items to you upon request, and if you ask her simple yes or no questions, she answers with an emphatic nod or shake of her head. She communicates well with body language, facial expressions and her hands. Most notably, she protests using all three when her sister snatches something from her -- like any little sibling should.

A few weeks ago, I took the girls to visit relatives for the weekend. We had a lovely visit in which I did absolutely no work whatsoever. No cooking, no cleaning, no therapies, nothing for three days. They went to the beach, I napped. They gardened, I napped. And so on.

On the way back home we stopped at a rest stop. Pee and coffee for mama, pee and water for Bee, diaper change for Teeny. Bee spotted a display of brightly colored lollipops near the register. Pointing them out, she made her usual demands and pulling her away, I gave my usual response. But then I had a sudden feeling of oh what the hell and we turned around and I let her pick out a lollipop. She wanted orange and after we ripped off the wrapper, all was right with her world. Back at the car, I took the lollipop from her "just for a second," so I could manipulate the car seat straps and buckle her in without getting the sticky thing all over me. I handed it absently to Teeny, who seized it, shoving it in her mouth hungrily. When Bee was in her seat, she grabbed it back. And Teeny howled with the unfairness of it all. She balled up her fists and got all red in the face, wailing uncontrollably, and next thing I knew they were both unbuckled and we went back and bought another orange lollipop. I was completely frazzled by the time I got the car going again, but they were both totally happy. Whatever.

Sounds minor. Score 1 for the kids, 0 for the parent. Maybe that's all it is. But consider, for a moment, what it means that Teeny is able to eat a lollipop. That sugar is a powerful incentive should be no surprise to me, but really, think about it. She knows she wants it, she knows she likes it. Highly motivated, she can get it in and out of her mouth. She can hold it, a small and thin object, weighted on one side. She dropped it a few times (as evidenced by the blue stuffed Cookie Monster fuzz I found on it when she finally discarded it, not to mention the sticky spots all over her dress and her car seat) but managed to pick it up again and feed it to herself, while buckled in tightly and while knowing that I could not turn around to help her. Maybe that doesn't sound like much to you, but all of that is pretty significant for someone who struggles with motor planning the way Teeny does.

In the past month, she's had another Botox treatment, so the tone in her legs is reduced. Botox means general anesthesia, which is scary for Teeny and much scarier for me, but it's an outpatient procedure with possibly the best physiatrist in the country (who likes to write her initials at the injection sites) and the staff at her hospital takes very good care of her.

Bored in the exam room before anesthesia:

Immediately after:

Her assistive tech equipment arrived, so she now has a bath seat (essentially useless), a chair with a desk (adorable and very functional as both desk and feeding station), and a gait trainer (which is a $3,000 monstrosity that she detests but should eventually be able to help her develop the confidence she needs to begin to walk). She got new braces for her legs, having outgrown the last ones. The use of her hands has improved: she presses buttons, puts things in and takes things out, and still works to feed herself with a fork. She might not be walking yet, but this kid really is moving and shaking.

Hating the gait trainer:

New braces:

The real issue here is not Teeny herself, but me. She's fine. She gets it. This is her life and it is what it is. Sometimes things suck and she's fussy and cranky, but most of the time she's pretty damn happy. I should be no different. Yet I seem to find myself time and again in complicated situations which never have easy solutions. In other parts of my life I tell myself I can't expect myself to know what is truly unknowable, and that I should live and love and act in the moment. If there's one thing I know about myself as a human being it's that unrealistic expectations are my Waterloo. But like the Dodecahedron -- the boy with twelve faces in The Phantom Tollbooth -- says, it's all in how you look at things. Sometimes I have to check in with myself 100 times a day to stay calm. If I look at any given complicated situation as one to stress about, fret over, squeeze of all the love and happiness, then that is how my psyche will process it and that is what it will become for me: just a source of stress and unhappiness. But if I look at it differently, if I treasure the moments of bliss when I have them instead of comparing them to the moments that are less so, then I am living my life between the raindrops.

I love both my girls, and they love their lives. Writing this blog, I come back to that again and again and again. If Teeny is progressing at whatever pace she is progressing, I should be celebrating. It's okay to be frustrated when things move slowly or when there are complications. But she brings so much unbelievable joy to my life. Is it any wonder that I want more of it?

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?