Friday, October 30, 2009

Some background, and why I'm writing this down.

I'm writing this stuff down for the benefit of family members who want to hear about Susan's health, and for other parents of kids with feeding disorders who are curious about Dr. Paul Hyman's treatment protocol. There is not a lot of information available about feeding issues, so word-of-mouth is pretty much the only way to find out what treatments are even out there. Anyway, if you're offended by foul language or discussion of bodily functions, then, you know, you can go read something else. The Drudge Report, maybe. Or catch last night's Daily Show on Hulu. Whatever. I don't expect casual acquaintances to be that interested in the minutia of my kid's medical issues.

If you're wondering what those issues are, well... it's complicated. I put together a flow chart a while back, mostly trying to get my own head around it all. She was premature and she has a chromosomal anomaly and she has a feeding disorder and is diagnosed on the autism spectrum. These things are are interrelated and, I believe, stem from something that happened in the first trimester of my pregnancy with her. We don't know what exactly happened, maybe I caught a virus or something, but it was significant enough that from that point on some of her cells developed with a genetic marker that neither her father nor I carry. This genetic mutation, an extra piece of chromosome 9 that appears in just some of her cells, is so rare that there's no identified "syndrome" that is associated with it. We don't know what it means, but we can assume that any developmental problems she has is related to that mutation. Genetics is vastly complicated and only beginning to be understood by people who are a lot smarter than me, but from what I have learned, whenever something starts going wrong with the genes, things go very wrong very fast. The fact that Susan has only moderate developmental problems despite her genetic condition is remarkably lucky.

I have a hard time explaining her feeding issues without going into long background explanations. It's not exactly that she cannot eat, at least in the physical sense. She has the right physiology, there's no paralysis or anything like that. Most of the time if I say "feeding tube" to somebody, they obviously start thinking about Terry Schiavo and permanent vegetative states and end of life issues. That's totally not where Susan is medically - she's basically healthy and as active as any kid.

On the other hand, if I don't mention the tube and just say Susan has "feeding issues," people generally react as though she's just a picky eater. Seriously, if I had a dollar for every time somebody told me that she'd eat if she just got hungry enough, I could pay for a year's worth of Pediasure. (It's kind of like saying somebody in a coma will wake up once they've gotten enough sleep.) She is not being willful in refusing food. She would love to be able to eat the same foods the other kids at school do. Nor is she holding out for something that tastes better. I would gladly let her eat ice cream three times a day if she could manage it.

You know how if one thing in your house is broken, other stuff starts to fall apart too before you can fix it all? Like how a single leaky pipe will let water drip under the floorboards so the wood beams start to rot and a termite colony moves in? (Hasn't that happened to everybody? It can't be just me.) Well, Susan was born too small to have the strength and stamina to nurse or drink a bottle on her own. She might have grown out of that, but she also needed a bunch of scary medical interventions like respirators and feeding tubes that went down her throat. At a time when most babies only associate happy, comfortable thoughts with their mouths (Yum! Mom! Milk! Binky!) Susan was instead experiencing all sorts of freaky and uncomfortable, if not downright painful, things going through her mouth and esophagus. She became guarded about any oral stimulation.

Over her first year, she was pretty constantly sick because we couldn't figure out how to keep her from throwing up all the food we gave her. She had to have been hungry all the time because we couldn't keep anything in her, and she must have had an upset stomach and sore muscles from all the vomiting. She threw up so much that after a while she wouldn't even attempt to take a bottle on her own (orally, that is). She lost the weak feeding skills she had at birth, and developed a fierce aversion to anything in her mouth aside from a single pacifier that she could not do without.

Eventually we got the vomiting under control, and her health improved, but the damage was done developmentally. She missed the window of time during which babies learn to eat and develop the muscle coordination to chew, swallow solids, and speak clearly. Although these skills are unconscious in most people, there are actually a lot of complicated muscle movements involved and it's not intuitive if you don't have the reflex. For example, can you imagine how to explain to somebody how to swallow? There's no vocabulary for how to do it. (Well, I'm sure there is medically, but not in common speech.) Teaching this kind of skill takes a whole lot of therapy and practice. So that's what we've been doing for the last five years.

Some of her behavioral quirks are consistent with some behavior associated with the autism spectrum. What that means is that in some ways, she acts like an autistic kid, but in other ways, she does not. Autism is also still mostly a mystery to scientists, and there is a huge range of behaviors and severity of the condition among people diagnosed with autism. That's why it is more correctly referred to as "Autism Spectrum Disorder," since there is a whole spectrum of conditions that are affiliated with the diagnosis.

Susan's developmental psychiatrist identifies Susan as being on the autism spectrum. Her geneticist disagrees, because he believes her delays are caused by the genetic anomaly, not by autism. Tomay-to, tomah-to, as far as I'm concerned. Although she does not demonstrate a lot of the classic autism behaviors that people expect from someone on the spectrum - she's quite friendly and affectionate - she does handle social interactions differently than most people. The diagnosis is useful because 1) there are a lot of people working with autistic kids and we can learn useful strategies from them, and 2) the state requires private insurers to cover behavioral therapy for autistic kids, so we'll have access to treatments that otherwise we could not afford.

I'm still working on an update about her recovery from the J-tube placement and how the first two weeks of the feeding protocol have gone. I'll post it when I'm ready.

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