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.

First OT visit

Today the Occupational Therapist came for our first session. Buddy was more interested in giving her hugs than in doing what she wanted him to do. However, she left some simple suggestions for things to try with him throughout the week, so we'll work those into our routine.

He had a nice time with the OT. She also suggested that we add a speech therapist, so we'll check into that, as well.

Blame Drew's Cancer

I'm not sure what to write about today. And I blame my writer's block on Williams Syndrome. Yesterday, I stumbled upon the BlameDrewsCancer--a site by a guy named Drew who found out ealier this year that he has Hodgkin's Lymphoma. In attemping to beat up on the cancer before it beat up on him, he started blaming everything on his cancer, and he invited others to do the same.

Lately, I've found myself doing the same thing -- not blaming Drew's cancer (although I may join the crowd--it's a handy excuse) -- but blaming things on Buddy's Williams Syndrome. He's not sleeping well? Blame WS. He takes forever to eat? Blame WS. He cries when we turn the mixer on? Blame WS. He doesn't consistently bring fingerfoods to his mouth? Blame WS. (It couldn't possibly be the fault of his mother who didn't want him to get food everywhere when he ate and so tried to keep his hands down by his sides as much as possible for quite some time.)

Although, obviously, some things can legitmately be blamed on his syndrome, it's difficult to know how much to blame on it. I don't want to blame so much on it that we don't require or expect enough of him; yet I also don't want to expect too much that he simply isn't capable of doing and end up frustrating us all. It's a fine line to walk--a line I'm sure we'll be figuring out how to walk on for many years to come. In the meantime, I'll just blame Drew's cancer.

"At least it's not . . ."

There's a lot of sadness in hospitals, and as I watch the mother wheeling her baby attached to an oxygen machine or see a child with his bald head covered in a scarf, it's tempting for me to think, "Well, at least Buddy's not (fill in the blank)." Or "I'm thankful Buddy doesn't have (fill in the blank)." As if, if he did have (fill in the blank), I wouldn't be able to bear it.

However, I don't believe this is a beneficial -- or biblical -- response to the situations I find myself in . . . for several reasons.

1. It denies the sufficiency of God's grace. God's grace is sufficient for every situation we're in--if Buddy were (fill in the blank), we would have the grace and strength to deal with it. As it is, God sheds His mercy on us every day, enabling us to deal with whatever needs to be dealt with.

2. It diminishes the value of the person who has (fill in the blank). Imagine hearing someone say, "Well, I'm thankful, at least, that my child isn't like (insert your name here)." Each person is an image-bearer of the Creator, and although that image is now marred by the curse of sin, we still retain the fingerprint of God in our lives. All of His children are precious in His sight. And we all stand before Him equally in need of His loving salvation.

3. It's not a very comforting thing to say--or think--anyway. Imagine that you're a person with (fill in the blank). How do I comfort this person? "Well, at least you're not ___." And then that person? . . . What about the last person at the bottom of the heap? How do I comfort them?

4. Proverbs 14:10 is true. Each heart knows its own bitterness. While I can sympathize, and even empathize, with someone else's pain, I can't truly know what they're going through. And thinking or saying this only serves to show that I know nothing of God's grace.

5. My response has already been determined by God: "Be joyful always; pray continually; give thanks in all circumstances, for this is God's will for you in Christ Jesus" (1 Thessalonians 5:16-18). I don't believe this means "find something to be thankful for in all circumstances," but instead that I am, in fact, to give thanks for each circumstance because it is God's will for me. Although God isn't the cause of the trials I face (my sin in Adam began that string of happenings), He is sovereign over His creation and ordains what comes to pass. In the midst of my grief, I am to joyfully give thanks for what He has brought about: "Thank you, Lord, that Kieran has Williams Syndrome. May we use this to bring You glory and to manifest Your grace and mercy."

Do you agree? Disagree? Remain indifferent? I invite your thoughts.

Now that I'm done pontificating, I'll let you know that the doctor was pleased with the results of Buddy's echocardiogram and says we are to continue doing what we do. He wants to schedule another one in six months, but at this point, isn't overly concerned about the supravalvular aortic stenosis.

Cardiology appointment

Buddy's service coordinator came today so that we can get started with the therapy sessions. She gave us a copy of the review the therapists did last week, and we set some goals for Buddy to accomplish within the next six months (Husband mandated that he be able to play football and speak in complete sentences) and chose an occupational therapist who will meet with us for an hour each week to help us accomplish those goals. We're set to begin sometime within the next few weeks.

After the coordinator left, I made some Jello. I've been under general anesthesia twice (there's a connection between this and the Jello -- trust me). Once in high school when I had my wisdom teeth taken out. (Immediately after that, I had to read Crime and Punishment for an English assignment--talk about being in pain.)

The second time was after I had Buddy yanked from my abdomen. I'd obviously had an epidural for the C-section, but after he was taken out and they were stitching me up, for some reason, I felt the need to move my legs, and I began to squirm on the operation table. Obviously not the best thing to do when a doctor has a needle in her hand. So the anesthesiologist (who was wearing a Steelers bandana in Husband's honor) put me under for about 10 minutes. When I woke up as I was being wheeled back to our room, I uttered these prophetic words, "I think I fell asleep for a bit." Husband just patted my hand.

At any rate, in his 10 (soon to be 11) short months, Buddy has also been sedated twice. And tomorrow will make the third time. He has another echocardiogram on his heart at 1 pm (to check if the aortic stenosis is progressing) and isn't allowed to eat anything (including formula) for 6 hours before the sedation. He is, however, allowed to have "clear liquids," which includes Jello, until 2 hours before he goes under. Since he doesn't like Pedialyte or broth, I thought I'd give the Jello a try and see if that keeps him satisfied. We shall see if he prefers "blue" or apricot -- or neither.

First evaluation

The therapists came today to evaluate Buddy--one was an oocupational therapist and the other was a developmental therapist. They spent a little over an hour watching and playing with him, scribbling notes and asking questions about him. They said that by virtue of his WS diagnosis, he was automatically eligible for the First Steps program, which I was happy to hear. Overall, they said that he's doing well. The only delays they saw were in his fine motor and verbal skills. And on those counts, they said the delays weren't because he wasn't capable of developing those areas, but just that he hadn't yet developed those areas. The next step is to meet with a coordinator, formulate a plan, and choose the therapists and therapies we want.

Trip to the geneticist

Buddy celebrated his 10-month birthday with a trip to the geneticist today. The doctor wanted to go over WS with us and answer our questions. We didn't learn much new today--nothing, at least, that we hadn't already found out from our Internet searches--but we'll be visiting with the geneticist more often in the future as he monitors Buddy's development and works with us on finding research studies for Buddy to participate in.

First Steps

The intake coordinator came today to get the process started for enrolling Buddy in the First Steps program. Although he's been tracking fairly well, as least physically, the genetics doctor wanted him to get involved with early intervention services (EIS) as soon as possible so that he stays on track. The next step is an evaluation by therapists which will determine which therapies they think he should have.

FISH results

Today, the genetics doctor called to let us know that the FISH test results confirmed that Buddy has Williams Syndrome and that his calcium levels are in the normal range (meaning he doesn't have the hypercalcemia usually associated with WS).

I had read in various places that many WS parents use melatonin to help their child sleep better at night. With WS, it's not the normal child-wakes-up-once-in-awhile-at-night thing. It's that child can't settle down at night and continues to wake every few hours. For example, tonight, I put him down to bed at 8:30. At 10:30, he's still not fully asleep, although he's quieted down and isn't crying anymore. And he'll probably be awake and crying again sometime between 1 and 4 (if not several times). It's not that he can't fall asleep on his own -- he does fine during his naps. For some reason--which I haven't been able to pinpoint with all the reading I've done--WS kids just can't self-soothe very well and nighttime sleeping (or lack thereof) is a huge issue. It's difficult to explain the difference between WS sleep issues and a non-WS child who simply wakes during the night, but if you've been here during the evenings/night, you know what I'm talking about. And, quite frankly, the WS diagnosis was somewhat of a relief in this particular area because it means we haven't been doing anything wrong (at least in this area)--the issue isn't with how we've taught him to sleep (and believe me, I've tried everything to get him to sleep better at night--including seriously considering calling in a "sleep expert")--it's with him.

At any rate, I asked the doctor about giving Buddy melatonin to help him sleep better, and the doctor was fine with it. So tomorrow I go on the hunt for melatonin, hoping that it gives us all a better night's rest.

Welcome to Holland

If you're the parent of a child with a special-needs diagnosis, "Welcome to Holland" is probably one of the first things you read after you received the diagnosis. Shortly after Buddy was diagnosed with Williams syndrome, Husband's parents came to visit and Husband's mom brought a printout of "Welcome to Holland" for me to read (her youngest daughter, Husband's youngest sister, has Down syndrome).

This isn't new or original to me--it's been making the rounds for years--but I was reminded of it, again, the other day and decided to post it here.

Welcome to Holland
c1987 by Emily Perl Kingsley. All rights reserved

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this.

When you're going to have a baby, it's like planning a fabulous vacation trip to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around and you begin to notice that Holland has windmills and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy, and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away because the loss of that dream is a very, very significant loss.

But, if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things about Holland.

Welcome to Holland, part 2
I have been in Holland for over a decade now. It has become home. I have had time to catch my breath, to settle and adjust, to accept something different than I'd planned.

I reflect back on those years of past when I had first landed in Holland. I remember clearly my shock, my fear, my anger—the pain and uncertainty. In those first few years, I tried to get back to Italy as planned, but Holland was where I was to stay. Today, I can say how far I have come on this unexpected journey. I have learned so much more. But, this too has been a journey of time.

I worked hard. I bought new guidebooks. I learned a new language and I slowly found my way around this new land. I have met others whose plans had changed like mine, and who could share my experience. We supported one another and some have become very special friends.

Some of these fellow travelers had been in Holland longer than I and were seasoned guides, assisting me along the way. Many have encouraged me. Many have taught me to open my eyes to the wonder and gifts to behold in this new land. I have discovered a community of caring. Holland wasn't so bad.
I think that Holland is used to wayward travelers like me and grew to become a land of hospitality, reaching out to welcome, to assist and to support newcomers like me in this new land. Over the years, I've wondered what life would have been like if I'd landed in Italy as planned. Would life have been easier? Would it have been as rewarding? Would I have learned some of the important lessons I hold today?

Sure, this journey has been more challenging and at times I would (and still do) stomp my feet and cry out in frustration and protest. And, yes, Holland is slower paced than Italy and less flashy than Italy, but this too has been an unexpected gift. I have learned to slow down in ways too and look closer at things, with a new appreciation for the remarkable beauty of Holland with its tulips, windmills and Rembrandts.

I have come to love Holland and call it Home.

I have become a world traveler and discovered that it doesn't matter where you land. What's more important is what you make of your journey and how you see and enjoy the very special, the very lovely, things that Holland, or any land, has to offer.

Yes, over a decade ago I landed in a place I hadn't planned. Yet I am thankful, for this destination has been richer than I could have imagined!

The Diagnosis

It wasn't supposed to be this way. Life, that is. Life wasn't supposed to be the way it is. Women weren't supposed to die of leukemia when their children were three years old. Couples weren't supposed to struggle with infertility. Grandmas weren't supposed to slowly succumb to Alzheimers. Little girls weren't supposed to be born with an extra chromosome.

And little boys weren't supposed to be born with 26 genes deleted from the long arm of their seventh chromosome. Life wasn't supposed to be this way--full of death, disease, and suffering. Life was supposed to be full of . . . well . . . life. That's the way God originally made it--a "very good" creation, He called it. And yet here we are, living in a creation groaning under the weight of the Curse placed on it by its Creator because of sin . . . my sin, your sin, the sin of all mankind. It's not pretty, the effects of this sin.

 

In January, when we found out Buddy had the supravalvular aortic stenosis (SVAS), the cardiologist mentioned that it was usually associated with Williams Syndrome, and he wanted us to have Buddy undergo genetic testing. Since then, several of his other doctors have mentioned the association between aortic stenosis and Williams Syndrome, however, I didn't really think anything of it -- they didn't make it sound like it was serious, and I never bothered to google it and find out what it was.

Last week, the genetics office called to set up an appointment. That appointment was today. Today we found out that Kieran has Williams Syndrome. In some ways, this changes everything. In some ways, it changes nothing.

The diagnosis explains so many things--his "failure to thrive," the frustrations with his eating (or lack thereof), the delayed sleeping-through-the-night, why he doesn't really look like either of us, the SVAS, the kidney reflux . . . . At this point, the doctor wasn't able to determine what level of mental disability K would have, but assumed it would be in the mild to moderate zone, rather than severe. He was encouraging that Kieran would be able to live on his own in the future, although he'll probably need help with things like keeping track of his finances. And the doctor has referred us to the state physical therapy program so that we can keep him on track (or as close as possible) developmentally.

We'll have more doctor visits with the geneticist (and all the other doctors Buddy has been seeing) in the future. We'll just take it one thing at a time and see how Buddy develops. God is good--all the time.

Moving Forward

Buddy's diagnosis hit us both harder than I would have expected. I didn't realize how many expectations we held for him until we faced the possibility they would be taken away. But then, the Lord's peace began to work its way into our hearts. We know that His grace is sufficient and His mercies are new every morning. In fact, the verse on the bulletin cover this morning at church was, "It is of the Lord's mercies that we are not consumed, because his compassions fail not. They are new every morning; great is thy faithfulness" (Lamentations 3:22-23).

And, after grieving the loss of "what could have been" and wondering what this means for us and Buddy, we're ready to move on and embrace the possibilities of what will be. As you might expect, we've been researching Williams Syndrome, and little things like the following video are encouraging to us.



My mom has a master's degree in special education and is already researching the various therapies and interventions we can use as we work with Buddy. Husband's mom also has special insights into working with people with disabilities. We're surrounded by loving and encouraing family and friends, and we're looking forward to doing our best for our son. We'd like to see him "be all that he can be" (to borrow a phrase from the Army) and grow into the man God wants him to be.

For those who are interested in learning more about Williams Syndrome, here's a 45-minute video you can watch. Or if you're more of a reader, here's a website to peruse.

Thanks for praying for us.