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.

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.