Food for Thought (18 Weeks + 6 Days)

Like most of the country, we have been in a cold snap for the past week. And not just cold, but really cold, for here anyway. I've been worried about walking around on slippery sidewalks and just the cold weather in general. But... oddly enough, my hips seem to enjoy the cold weather. Maybe it's like they are being constantly iced, LOL. At any rate, they've actually been feeling quite good since I last wrote. Weird. But weird in a good way, right?

In other news, due to the cold weather, I've been spending more time on the Internet than usual, trolling random blogs related to random (and sometimes not so random) topics that are of interest to me. I'm in the midst of having what may or may not be an 'aha' moment, but is interesting to note regardless of whether it's relevant or not. In reading other hip blogs, I've noticed that several of them are by people who have hip problems due to Ehlers-Danlos syndrome (EDS), which is a connective tissue/collagen disorder. There are several types of EDS, of which the mildest is Type III - hypermobility syndrome. The reason this sticks in my mind is because my daughter has actually been diagnosed with EDS - Type III. It was a long time ago, and at the time, we had so many other things going on with her that I never really thought twice about it. In fact, I went back and read my journal from the visit that we had with the geneticist who diagnosed her, and I didn't even write about that diagnosis. And apparently we even had a follow-up with the doctor that I didn't even find worthy of a journal entry. However, a few days ago, I was cleaning out my file cabinet and came across a folder full of medical reports from when my daughter was young. The doctor wrote: Given N's personal and family history of hypermobility, I diagnosed her with Ehlers-Danlos syndrome type III, otherwise known as benign hypermobility syndrome. I believe this to be the cause of a significant portion of her motor development delay... I would like N to be seen by a pediatric neurologist to try to differentiate any hypotonia from her extreme joint hypermobility.

There are a couple reasons I didn't think much of the EDS diagnosis, one of those being that the doctor didn't make a big deal about it. The other reason is because I'm not sure I really believed her. EDS - Type III is inherited in an autosomal dominant manner, which means that either I or my husband would have to have it to pass it down. And since the question of whether either I or my husband had EDS didn't come up, I guess I just figured the doctor was just sort of making stuff up, ha ha. Now, I guess on some level I realize that you don't get to be a pediatric geneticist at a reputable research hospital if you are in the habit of making stuff up, but at the same time, there were many other concerns on the table at the time, obviously the least of which was EDS. At the same time, it's not as if I've had such awesome experiences with doctors that I believe everything they tell me, and in my experience, most people's understanding of basic science is so limited, it has made a lot of health care providers lazy about their medical knowledge, or at least how they convey that knowledge. Another consideration is that mutations can arise de novo (meaning neither my husband nor I would have to have the condition), and in fact my daughter does have a de novo chromosomal duplication. So that is always a possibility.

On the other hand, now that I think about it, it is absolutely not out of the question that I might also this condition. What actually got me thinking about it was the fact the one of the blogs I stumbled across was a teenage girl with hip pain. She had a couple of failed hip surgeries, which is what actually led to the diagnosis of EDS; because of EDS, her tendons and ligaments were too lax to keep the joint in place after surgery. It is also worth noting that because EDS is due to a collagen defect, and collagen is present throughout the body, EDS is associated with other issues, notably with the heart and the GI tract. My daughter does have some heart issues (which actually baffled the pediatric cardiologist we saw) and GI issues (which a pediatric gastroenterologist said 'to keep an eye on'), and I also have heart and GI issues I have never really pursued, just because these are hard things to pursue when you barely ever go to the doctor. LOL.

At any rate, it is some interesting food for thought.

* * * * *

FYI, here were my impressions after our first visit to the pediatric geneticist:

April 14, 2007

Our meeting with the pediatric geneticist was mostly, as I suspected it would be, uninformative. However, it was much less torturous than I expected it to be, which was a pleasant surprise. I've never been to a research hospital before, which I realize is a good thing, because most of the people there are in a sorry condition. (...)

I have to admit it was really nice, though. The waiting room was like no other waiting room I've ever been in. It was enormous, with lovely toys for kids of all ages. The only other people in the room were two grad students (I presume) trying to recruit children for a study on memory. Our appointment was at 1:00, and when the clock ticked past 1:00 and we still hadn't been called in, I was annoyed considering they had emphasized the importance of us getting there early. However, we got in around 1:10, which I suppose isn't too bad. (Our ped's view on making people wait for appointments is that it is a form of 'medical arrogance.')

At 1:10, a girl wearing jeans and a t-shirt took N in and did all the standard poking, prodding, and measuring, then we went and waited for Dr. K for another five minutes. I had no image in my mind of what a pediatric geneticist MD would be like, but I was still definitely surprised when the doctor came in. First of all, Dr. K was, like, my age (literally, as it turns out), and secondly, she was wearing a fancy Chinese-ish looking shirt and nice slacks.

And sandals. Which I wouldn't have noticed, because, after all, who notices a man's shoes? (from 'The Shawshank Redemption') But the first thing she did was apologize, saying she was feeling very self-conscious today. She went on to explain that she liked these sandals so much she bought them in both black and brown. It was dark when she got dressed, and she ended up with one black and one brown. Then she sat down on the examining table with her legs crossed, rummaged through a fancy, Chinese-ish looking handbag (she was not Chinese, but a white farm girl), and pulled out a piece of paper.

Then she commenced taking a family history, first from me, then from E. Mine took all of one minute. I told her I was healthy and had no problems other than having hemoglobin E. Then she asked about my family and I told her I had two brothers, but that we were not genetically related. And that was the end of that. Then it was E's turn. The abridged version of the medical problems in E's family took about 30 minutes. N was tearing around the room the whole time, going back and forth from me to E to me, climbing on the chairs, pulling at the blinds, playing with the sink, and pushing the doctor's chair all over. Finally she demanded to be picked up by Dr. K, which is completely different from how she is with [our normal ped] (screaming hysterically and clinging to me from the minute he walks in the door). Dr. K decided this would be a good time to start her examination.

The very first thing she noticed was her ears, which is funny because we've always joked about how her ears stick out, never realizing that there could be a medical significance. But apparently sticking out ears can be a sign of muscle weakness. Obviously some people's ears just stick out, but since neither mine nor E's do, N's ears are suspect. In fact, Dr. K said her ears are classic 'Charcot' ears, which I recognized as being 'Charcot-Marie-Tooth' disease, although I couldn't remember what it was. However, she didn't seem too concerned because apparently the rest of her did not look 'Charcot.' (Although, I have to say, once I got home and Googled Charcot-Marie-Tooth, I started to wonder.)

After further examination, she exclaimed that N was the most flexible human she had ever seen, which isn't surprising, because she's been practicing for, what, six months? LOL. We've always thought it's logical that N is flexible, because both E and I are extremely flexible, and so N is Ridiculously Flexible. Dr. K said the delays in her gross motor development could definitely be due to the extreme laxity in her joints, especially since her fine motor skills were on par with what they should be for an almost 17-month-old. She also said that her muscle tone was good, which it wouldn't be if she were hypotonic, noting that flexibility concerns the connective tissue, whereas hypotonia concerns the muscles. However, she couldn't rule out that there was something wrong with her muscularly because of her ears and her problems swallowing.

She said that N needed to be evaluated by a speech and swallowing specialist before she could make any decisions about what sort of testing, if any, we should have done. She said it could be that her swallowing problems were unrelated to the gross motor development delays; maybe they were neurological. She also said that even if she had no muscular problems, she could still benefit from physical therapy, so we should have a physical therapist work with her, too.

(...)

Overall it was a good appointment, even though it just confirmed some of the things that we've thought all along. We're going to get a PT referral from [our ped], then go back to see Dr. K in two months. At that point she'll decide if there any genetic tests we should have done. She said if she was going to have N poked, she wanted to make sure she got all the tests done that she wanted, and she didn't want to do tests just to do them, which I appreciate.

Mostly it's a relief, because I was kind of worried that a specialist might take one look at N and say, 'Oh yes, it's obviously such and such' (kind of like the Charcot ears, which would have never occurred to me). But she didn't. She didn't seem overly concerned, which is logical because I'm sure that she sees many kids in much worse shape than N, but still. She didn't seem to think she had any sort of alarming condition and didn't even bring up muscular dystrophy or spinal muscular atrophy, which are the things we were initially concerned about. In fact, she didn't even bat an eye at N's above normal CPK levels.

I'm sitting in a café right now; I'm supposed to be working on a take-home exam, but instead I just spent an hour writing this entry. Ironically, a woman who just had a baby came in. I heard her telling the girl behind the counter that the labor had been very difficult, she had ended up having an emergency hysterectomy, and her daughter (now seven weeks) was still in the hospital. However, she seemed so upbeat and factual about it as she recounted the story. Oh the trials of parenthood. You don't stay strong by choice, you stay strong because you have to.