You never know what you're gonna get

This morning we went for another visit with the OT we visited last week.

The thing about therapists is that you never know what kind you'll get. Some, like the OT we had in First Steps, are great. Very proactive in working with the child, very insistent on the child doing what needs to be done, and very good about suggesting ways for us to work with him. Others, like the DT we had in First Steps, are less insistent about getting the child to work and not as good about getting the family involved.

I was concerned that our new OT would be like the latter. So I was pleasantly surprised with Cindy this morning. She was really interested in finding out how he was doing and in working with him and getting him to stay on task. And I've learned that therapy is as much about getting the child help as it is about our learning what we need to be doing to help him -- a philosophy with which she agreed. She was very adamant that therapy is much more effective when the parent is involved the rest of the week.

So, we're off to another good OT start.

Evaluation Day, part two

This morning, we got up bright and early, piled everyone in the car, and headed down the road to meet with Dr. Mervis and her team for round two.

Today, Buddy spent some time in a play session with one of the researchers, in a play session with me, at a Baby Think session, and in a phonological evaluation with another researcher. And I got to have my psyche evaluated about how stressful it is to have a child with special needs. Husband spent his time taking care of one or the other of the boys.

At the end of it all, Dr. Mervis reviewed all the data and then called Husband and me into her office to the discuss the results. She said it was all good news.

According to their calculations, he's "average or low average" in every area except fine motor--meaning that in his expressive (the way he talks) and receptive (what he understands) language, he's average. In his cognitive abilities, he's average. And in fine motor areas, he's delayed. And, she said, compared to other children with Williams syndrome, he's above average.

Wow.

She said that if we were to put him in a preschool with typically developing children, "he would not be the lowest in the classroom." And that we were to make sure his teachers know that he has Williams syndrome, but that he can do what is expected of him and that they should expect him to do just that.

And we were encouraged to keep doing what we're doing--enrolling him in therapies (especially in occupational therapy for fine motor skills), reading to him, finding ways to develop those fine motor areas (and looking for alternatives to coloring since he's uninterested in that), and just, in general, enjoying having him as our son.

So, how much stock do we put into charts, evaluations, and the like? I'm not really sure. One month, one evaluation says one thing, the next month another (albeit, more extensive) assessment says something different. Dr. Mervis's comments definitely made our hearts glad. But, he is who is, and it's up to us to continue to encourage him, teach him, and most importantly, through the working of the Holy Spirit, lead him to a personal relationship with Jesus Christ--something no amount of bar graphs and filled-in-bubbles can measure.

Evaluation Day, part one

A few months ago, I contacted one of the principle researchers on Williams syndrome to find out of there were any research programs we could enroll Buddy in. She said there were, and I signed us up.

Part of the program is evaluating the genotype/phenotype relationship in Williams syndrome--whether there's a correlation between the size of the deletion on the seventh chromosome (genotype) and how severe or mild the symptoms are (phenotype). The lab associated with the research program sent us a blood kit, and Husband, Buddy, and I had our blood drawn and then overnighted back to the lab. This was to test our DNA (genotype).

Today, we met with Dr. Mervis and her research staff who evaluate the phenotype--for example, Buddy's cognitive and language abilities. They had us fill out several questionnaires, asked us lots of questions, and did an assesment on Buddy that was similar to the one done last week, at his preschool evaluation. We'll go back tomorrow for a few more tests and to find out the results.

We were able to watch most of the assement through a one-way mirror, and there was some frustration on my part when Buddy didn't answer questions that I know he knows--his colors, how to count . . . . He knows his colors but when the researcher asked him for a red crayon, he gave her a purple one (he got most of the other colors correct). And when she asked him to count blocks, he didn't want to go beyond two. Sigh.

And then there are the inevitable "does he do ___?" questions that I answer no to and then watch as an hour later he does what I just said he didn't/couldn't do. Sigh again.

We'll see how the tests say he's doing tomorrow . . . .

"He's ours"

On October 17-18, 2011, we'll be visiting with Dr. Mervis, a Williams syndrome specialist. A few days ago, we received a packet of information and questionnaires to fill out before our visit. The other night, I sat down to go through them and asked Husband for his input on a few of the questions. So he was looking over my shoulder as I came to the question, "Please describe the best things about the child."

I thought for a bit and then answered, "He's loving, enjoys life, enjoys singing and music." And then I moved on to the next page.

Husband pointed to the question and answered, "He's ours."

I love this man.

They call him The Count

At the yearly evaluation a few weeks ago, one of the questions the therapists asked, to gauge Buddy's cognitive ability, was "Does he understand the concept of one?" Although he's been able to say the numbers 1-10, I wasn't sure he understood what one of something was, so I answered in the negative. However, the very next day, he came to me and said, "Two brushes," and sure enough, he was holding two brushes (two of my make-up brushes, but never mind that part).

Many of the questions they asked weren't really things I had thought about before and didn't really know how to answer, and I think I sold him short in several areas. It would have been helpful to have their checklist before they came so that I could think over the questions and topics (although I also understand that giving parents the checklist would probably skew their data in other ways).

At any rate, he's started counting things (a la Count von Count from Sesame Street) and especially enjoys imitating the "ha, ha, ha" laugh that the Count (and his daddy) does.

The measure of a man (or boy)

It's that time again. That time when Buddy has his annual evaluation for First Steps. The time when I remember that it's been two years since we received his diagnosis.

I understand the need for yearly evaluations. I do. I understand that parents of typical children look forward to them because they tend to bring good news--"you've successfully met the goals we set for you and are therefore graduated from the program and no longer in need of our services." And I also understand that they provide a way to find out which areas are strengths and which are weaknesses needing work.

But that doesn't mean I have to like them.

As the therapists spent their requisite hour with Buddy, asking me questions, and observing him, making their little checks in the boxes on the evaluation sheets, and tallying up the "points," they finally announced that, yes, according to their calculations, he was still delayed in just about every area.

And I found myself wanting to say, "But . . . but . . . but isn't there something you can say he's good at? Where, for instance, are the check marks for 'can hum any tune after hearing it once'? Where are the boxes for 'learned the Doxology after only hearing it at church and knows that it ends with aaaaaaa-men'? What about the points for 'never met a stranger'?" But I didn't. Instead, I signed the forms I was supposed to sign, and the therapists went on their way.

I'm not the only parent of a child with special needs who feels that "pang" in their heart after an evaluation. Another father of a child with a disability wrote:
In the pile of papers I referenced yesterday were some old test scores. Since Paul attends public schools, they assess his educational progress as mandated by various federal and state bodies. The things they want to measure, he can’t do. His scores on reading, reading comprehension, math, math concepts and the like were as low as you can score and still be breathing.

The things they can’t measure – like his inherent, God-created dignity as a human being – he excels at. I used to cry when those came in the mail every year. They still make me sad, not because of how severely disabled they ‘objectively’ show him to be, but because this is the cultural measure of his worth.

And therein lies a danger to children with disabilities not yet born. These are the objective measures of ‘reality’ that doctors and social workers and university professors understand – and which are communicated to parents who live in and breathe the air of this culture. The decision to do away with such seemingly worthless human beings then appears to be obvious.

No, let us talk about what is truly real. God creates some to live with disabilities (Exodus 4:11), he knows all their days (Psalm 139:13-16), he will supply every need (Philippians 4:19), and he knows the end from the beginning (Revelation 21:5-7).

After the therapists went on their way, I found myself singing the chorus to this old 4Him song:

This world can analyze and size you up

And throw you on the scales

They can IQ you and run you thorugh

Their rigorous details

They can do their best to rate

And they'll place you on their charts

And then back it up with scientific smarts

But there's more to what you're worth

Than what their human eyes can see

CHORUS

Oh I say the measure of a man

Is not how tall you stand

How wealthy or intelligent you are

'Cause I found out the measure of a man

God knows and understand

For He looks inside to the bottom of your heart

And what's in the heart defines

The measure of a man

Apraxia

A.P.R.A.X.I.A. Apraxia. It's a good Scrabble word.

This has been a busy week for us, filled mainly by a plethora of doctor visits. Today's was to the speech pathologist at the hospital for an evaluation of Buddy. We had him in speech therapy for about 5 months last year and then lost ST when the therapist quit First Steps. A developmental therapist has been coming since September but she works more on helping him communicate with signs than getting him to actually form words.

I set up the evaluation at the hospital because I've heard they have a fairly intensive program that helps kids with a variety of speech and language pathologies. Although he has about 10-15 signs that he uses and has recently started saying "ma ma" and "da da," I want to be sure we're doing everything we can for him and that something other than the known speech delays with WS isn't also hindering his expressive language abilities.

The speech pathologist was very kind and thorough. She spent about 1.5 hours playing with Buddy, asking questions and jotting down notes on her intake form. She'll be sending us her report in a few weeks. At the end, she said that based on what she has seen, it's possible that Kieran has a form of developmental speech apraxia. The good news is that there are several STs at the hospital who specialize in treating apraxia. So now we wait to see if our insurance will cover the therapy and for a therapist to have an opening in her schedule.

I'm very thankful that we live nearby such a good hospital and have so many services available to us.

PT and DT

On Friday we had a visit from a physical therapist. Although I had thought Buddy was doing fine with his gross motor skills, the evaluators at his yearly IFSP (individual family service plan) marked him 1.5 standard deviations below average. I was a bit surprised but decided to add a PT to his lineup just to keep tabs on him.

So it was she who came Friday morning. After watching him for an hour, she determined that he was doing mostly what he should be doing for his age and suggested that a monthly visit (instead of weekly) would be fine. I agreed, and so we'll see her again at the end of October.

The next visitor came a few hours later. Our speech therapist recently quit First Steps and since there are now only 2 STs servicing our area, we're again on a waiting list. (Buddy still isn't talking, so ST is definitely something I'd like to keep up with.) In lieu of a ST, our service coordinator suggested adding a developmental therapist, who supposedly can also help with speech.

And so the DT came Friday afternoon to spend an hour with Kieran. To be frank, I found her a bit annoying (mainly in the way she talked), but for the sake of continued therapy in this area, I'll keep her around. For awhile anyway. Our geneticist also mentioned at a recent appointment that he could refer us to the speech pathology division at Children's, which I may follow up on.

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.

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.

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.

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.