Dentist

Williams Syndrome presents itself in (among other things) a variety of dental problems, including defective tooth enamel, which can lead (obviously) to tooth decay. Don't ask me to explain why the tooth enamel is defective because I can't--just accept that it is what it is (I'm so zen).

At our last appointment with the geneticist, he suggested that we begin monitoring Buddy's teeth now. Thusly and henceforth, I made a dentist appointment for him, which was today. At the appointment, we were given a questionaire to fill out. One of the questions was, "Do you think your child will react negatively to a dental exam?" I answered, "Um, yeah." Not really. I just checked the "Yes" box and moved on to the next question. Are there any 17-month-old children who do not react negatively to dental exams?

And, during the exam (which was all of 60 seconds and involved no instruments or high-pitched noises), Buddy reacted as I had predicted. The dentist had him lay down backwards on my lap and proceeded to examine his mouth while he screamed bloody murder. I suppose it was rather convenient for the dentist, since B's mouth was wide open.

The end result was that Buddy's teeth look fine--the enamel seems to be normal and without defect for now. We'll see the dentist on a six-month schedule to keep tabs on the teeth. In the meantime, I suppose I should remember to brush his teeth more routinely . . . .

Another echo

Yesterday, Buddy and I went to the hospital for another echocardiogram. The cardiologist said the results were positive -- the supravalvular aortic stenosis (SVAS) looked like it had actually progressed back into the mild range (it was a "30" (the upper end of mild) and this time is was "25"). His blood pressure was in the normal range, and all other factors that they measured looked good.

We'll have another echo in a year (instead of every 6 months as we've been doing). According to the cardiologist, if the SVAS continues to stay in the mild range, he won't need surgery on it, and we won't need to be concerned about it (as far as activity restrictions, etc.). And if, over the next few years, the extent of the SVAS stays in the same range, we can eventually look at going longer between exams.

I'm happy with the results, as was the cardiologist. We're praising the Lord for the grace He has shown Kieran so far. He is good -- all the time.

Words he understands

Wednesdays are OT day for Buddy. He enjoys spending time with our OT.

When he was first diagnosed with WS, I had visions of him as an adult unable to do even the most basic of personal care -- tie his shoes, feed himself, brush his teeth. Perhaps a bit extreme but some of the videos we'd seen and articles we'd read described this type of behavior in older adults with WS--able to play a concerto on the clarinet but unable to tie a pair of shoes.

However, I've been encouraged by his progress over the past few months--he's working on brushing his teeth by himself and can use a fork to feed himself scrambled eggs. Still can't tie a shoe, but I'll let that go for awhile. He's also almost ready to walk by himself and is learning to use a sippy cup.

We've been watching the Your Baby Can Read DVD for the past few weeks and that seems to be helping him with language acquisition. He's not reading, per se, but he is recognizing that words mean something. The following videos are a few of the words he knows.







Basic, yes, but I'll take it.

Ears and eyes

The audiologist gave Budy's hearing the all-clear (meaning he doesn't have the sensorineural hearing loss common to those with WS); however, the ophthamologist said he'll need to do something about Kieran's tear duct blockage sometime in the near future, namely stick a probe into the duct to clear it while K is sedated--an outpatient procedure. Fun times.

Evolutionary "experiment"?

Our friend has been attending a "mini-medical college" at a nearby university. One of the recent seminars was on birth and genetic defects. The lecturer concluded that such things (and, therefore, the people with those defects) were evolution's way of "experimenting" with the human race. Of course, the obvious question, which someone asked the professor in all seriousness is: if they are just "experiments" which bog down the human genome and serve no purpose, then why bother to give them a good quality of life or allow them to procreate? The professor had no response other than to defer the question in the name of "ethics."

However, the thing about molecules-to-man evolution is that it's not just a scientific hypothesis, it's a worldview, embracing history, science, and morality. When you replace God with another creative force (in this case, evolution), you can't just chuck morality and ethics out the window (nor can you continue to borrow them from the Christian worldview). Science doesn't operate in a vacuum. Ideas and beliefs (including the belief in godless evolution) have consequences--serious consequences. In this case, life-denying (as opposed to life-affirming) consequences.

Here is my friend's follow-up article on this topic.

Sleep Study

The Williams Syndrome Association offers a registry for research studies on WS. They just announced a study on sleep-related issues in people with WS, so I enrolled Buddy in it. This one involves answering several sets of questions about all things related to sleep (which I did while this was the view out my window) and filling out a sleep log on him.

We've taken him off the melatonin this week since the label suggested using it for two months, followed by a week of withdrawal. So, I'll keep him off the melatonin for the next week while I keep the sleep log. Already I'm remembering why we put him on it to begin with.

Dietary fun

At our last visit to the geneticist, he gave us a paper listing things to do and not to do for WS. Several of the items dealt with the Vitamin D situation--people with WS tend to have an overabundance of Vitamin D in their system (which can lead to the hypercalcemia), so it's suggested that when outside, they're slathered with sunscreen, and that they aren't given a multi-vitamin supplement.

Because he won't have a multi-vitamin to fall back on in the future, I'm trying to establish good eating habits with him now. We've mainly been giving him whole (cooked) foods and little-to-no sugary things (people with WS also tend to develop diabetes). One of the foods that's supposed to have a lot of vitamins and minerals (but no Vitamin D) is avocados, which made up part of his lunch today. Thankfully, my uncle in California has graciously offered to send us all the avocados we can eat once his grove is established and producing.

I could probably learn a lesson or two from the way I'm making Kieran eat--potato chips dipped in ranch dressing aren't anywhere near his menu.