At Elena’s one year checkup her pediatrician recommended some precautionary measures. At the time, we didn’t think it would be a big deal, but we’ve spent the past six months following up. We think we’ve come to the end of it all, and it turns out not to be a big deal, but it’s been quite a journey along the way.
Everything started when Elena was so big at birth and also had a big tongue sticking out all the time. At one year, she was still a very big girl, and although she had better control of her tongue, it was still more prominent than usual. These two factors led the pediatrician to recommend a visit to a geneticist. We took her recommendation, and that’s where the real fun began.
There aren’t very many pediatric geneticists, so we couldn’t get an appointment for several weeks, but it was okay because we needed all of that time just to complete the extensive paperwork(I mean Jenny needed the time to complete it-I don’t do paperwork). Despite the preparation, when the appointment finally arrived, we were caught off guard. It was as if the geneticist made a de facto assumption that there was a problem, when we were pretty sure that there wasn’t. The geneticist all but ruled out the most likely condition, but then continued to order additional tests for it. We came out of the appointment with no definitive diagnosis, but we did have orders for lab work, several different tests that needed to be completed and referrals to three other specialists. We left feeling overwhelmed.
Some of the visits turned into more visits. We eventually saw a cardiologist, otorhinolaryngologist (ENT), two speech therapists, a plastic surgeon, a dentist, an endocrinologist, and two nutritionists. Elena sat through two multi-vial blood draws for which we were more nervous than she was. Throughout it all she was a wonderful patient–she smiled at the doctors and nurses, let them poke and prod and examine her, and always had fun playing with toys in their offices. She didn’t like the procedures where we had to help her be still: an x-ray, sonogram, and cardiac ECHO.
Although the geneticist described herself as a detective assembling clues, I might have preferred her to be more of a statistician. It seems like she sent us chasing after things that had only a vanishingly small probability. I ended up spending a lot of time thinking about our health care system, and how much all of this was costing. It was a little bit more out of our pockets than we had expected, but nothing to break the bank or even complain about. The insurance payouts, on the other hand, were very high. Was it all necessary? It’s hard to say no to a doctor when she’s recommending something that in her professional opinion is important for your daughter.
All the tests came back with normal results, and almost all the follow-up doctors sent Elena away with a clean bill of health and no need to come back for more follow ups. Some were even surprised that we ended up there in the first place. The dentist chastised us for not having taken Elena in already, but that’s just how dentists are. The endocrinologist congratulated us for recently slowing Elena’s weight gain, even though we told her that it was probably because Elena had self-regulated her food intake. Then she told us all about the connections between biology, history, and anthropology. Jenny filled a binder with all of the reports and findings, but we hope not to add too much more to it.
There is one element of ongoing care. Although it was too early to say that Elena had a speech delay, she wasn’t making all of the expected sounds, so she’s been working with a speech therapist. The therapist makes house calls, which is nice, and has suggested all sorts of interesting techniques to help Elena’s speech muscles develop. It seems to have helped, even though it’s hard to separate the effects of therapy from the natural progression that would have occurred anyway.
When we move, we’ll find a new pediatrician and make sure she knows about all of this testing, but we don’t plan to see any more specialists or do more tests unless certain red flags pop up; some of the doctors gave us things to watch for. For now, Elena’s a happy, friendly, outgoing little girl and in our eyes, her good health is not in question at all.