Thursday, December 6, 2012

Ingraspable Complexity: A Health Update

Another day, another doctor--it's one of those kinds of weeks again. I haven't posted much of a health update on the kids lately because, while there have been health struggles, we haven't gotten much in the way of conclusive answers. After another long morning with another doctor I feel I need to vent, conclusive answers or not. So for those who are interested here is the run-down on the Eby kids' health lately.

Elijah--This poor little guy has been afflicted with diarrhea ever since the rounds and rounds of antibiotics in September for his ear infections. Time and probiotics are not healing it either, it's getting worse. He was the most ill over the Thanksgiving weekend (of course), with watery diarrhea running all down into his footed sleeper 10-15 times in 24 hours. He had finally begun sleeping through the night two weeks prior, but when diarrhea began striking all night long I had to return to tending to him every hour or two around the clock. We tested him for C Diff, and that was negative. It can't be rotavirus, because he's been vaccinated against that and because the doctor didn't think it smelled like rotavirus. We just had his blood drawn again on Monday to check for food allergies, and are still awaiting those results.

Toby--He's just getting over his second ear infection this year and has a mysterious mouth ulcer that has ruined his appetite, but overall he seems to be in better health since we discovered his milk allergy and removed dairy from his diet in October.

Emma--This is my healthiest child. She's had a few preschool-shared viruses but is doing great overall. Her speech therapist even suggested we are almost done with her need for speech therapy! Emma is now able to produce all of the sounds that are age appropriate for her (th, l, and v aren't considered delayed until kids are six or seven). She doesn't always include them in her everyday speech, but she will if she is reminded, and if all she needs now is a reminder to speak carefully, that's something I can do at home with her. This is amazing news just 6 months after therapy started!

Hannah--She is still plagued by tummy aches, with some weeks being better than others. But she insists that there is a big improvement since we pulled corn from her diet and she still won't touch a corn product so I have to believe that was at least part of the problem. She is still tiny for her age, weighing 42 lbs at 6 1/2 years old, but the doctors assure me that her growth is adequate. She certainly has the perfect ballerina figure.

Naomi--Ah, Naomi, my mystery child. We met this morning with one of Naomi's pediatricians who is very gifted at looking at the child as a whole, as opposed to all of her specialists (nephrologist for kidneys, GI doctor for liver fibrosis and celiac, cardiologist for heart murmur, ophthalmologist for crossed eyes, and orthopedic doctor for club feet) who only look at their specialized problem area. Naomi has suddenly gained about 10 lbs this fall. My initial fear was that it was water retention due to decreased kidney function. Labs initially showed her kidney function was decreased, but the nephrologist thought it could be a rare side effect of a medication she was on. We removed the medication and two weeks later her kidney function had improved again (still not normal, but not immediately worrisome anymore), so that was a huge relief for us, but didn't help to solve the weight gain mystery.

I brainstormed with this pediatrician this morning about Naomi's weight gain, and she wanted to say the weight gain was not water retention, but actual body mass added. Naomi has grown about a centimeter in height, and a 10 lb weight gain is possible if something were affecting her ability to feel full normally or affecting the way her body is metabolizing food. The doctor reminded me that Naomi had shown antibodies to the thyroid gland at her last blood draw in Sept, and though it was a small amount of antibodies, it was definitely abnormal. Her thyroid function still seemed adequate (with normal T3, T4, and TSH), but that doesn't mean she might not be feeling more subtle effects of a struggling thyroid that is under attack by her own immune system.

Naomi also mysteriously has an elevated total IgE antibody level, which indicates an allergic reaction of some kind taking place in her body, but extensive allergic testing has yet to find the specific allergen. This pediatrician actually asked me what I had been researching on the Internet about Naomi's conditions lately--not to shame me as some doctors do, but because she respects me by now, and she knows that I devote my life to this and that she can learn from my research. I mentioned some things I had read about anti-thyroid antibodies sometimes indicating other autoimmune diseases such as type I diabetes or rheumatoid arthritis. I shared what I've learned recently about how different gene mutations can disable the primary cilia in some kinds of cells throughout the body causing the kidney/liver disease Naomi has, and my frustration over still not finding out which mutation she has, and therefore not being able to predict accurately the course of her disease progression.

Naomi has had multiple chromosomal and genetic tests run without finding any mutations, but today the doctor explained that because we still don't know everything about the human genome, sometimes mutations are discovered that haven't been linked definitively with a disease yet. Normally these mutations are not reported since their clinical significance is still unknown. Naomi's mutation may be just such a case, since her disease is unique to her as far as we can tell. The doctor ordered yet another chromosomal microarray analysis--this time to be done by someone she knows personally who "owes her a favor" and may be able to release information on mutations detected that wouldn't ordinarily be reported. This doctor is willing to personally research any mutations found and attempt to correlate them with Naomi's symptoms in the hopes of figuring out just what is at the cause of at least some of her disease and what we might expect in the future. (In my opinion, that makes her the best doctor in the world.)

We concluded that so much in the human body is still a mystery to us, and autoimmune diseases are among the most mysterious to the medical profession. We know that they happen but we do not know why, and we are powerless to stop them, short of suppressing the entire immune system, which obviously has terrible consequences of its own. So we decided to re-check Naomi's thyroid once more and see if the level of antibodies has risen or not, and to be sure the function is still adequate. She wants me to be extra-vigilant about Naomi's diet and exercise. Beyond that we wait and watch, and deal with symptoms as they come.

There is such a false sense of control that comes from all the accumulated wealth of medical knowledge we have to draw on today. We think we understand the human body. We think we can control it. Then there is Naomi, for whom the best doctor is the most humble one--the doctor who is willing to say, "I really don't know what is going on inside your daughter, but I will do my best to find out."

Ultimately, I am reminded that Naomi is fearfully and wonderfully made, that the mind-blowing intricacies of the human genetic code and the ingraspable complexity within each cell of each system in her body are undeniable indicators that someone with knowledge far greater than ours designed her, and that she is upheld by that same powerful hand. Time and chance did not design the intelligent human immune system, and therefore I rest, knowing her immune "malfunction" has a designer as well. The potter has a right to shape the vessel as he sees fit--each for a unique purpose well beyond our comprehension. If I cannot understand how Naomi's body works I cannot expect to understand how her body's designer is working in this world on a grander scale. I guess that is the essence of worship.

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