Kidney follow-up

Because of the looming snowstorm, we spent last night at SIL's place. They live about 8 miles (compared to our 40+ miles) from the children's hospital and Buddy had an early morning appointment there. This one was a follow-up with the urologist to check on his kidneys. By the sounds of his crying during the ultrasound, you would have thought the tech was dissecting his kidneys rather than simply taking pictures of them. Buddy kept signing "all done" throughout the 15-minute ordeal and I had to keep telling him, "No, not yet."
After it was over and the doctor had looked at the results, he happily told us that his kidneys looked fine, looked like they were growing well, and that he didn't need to see us again for a year. And there was great rejoicing.

Kidneys

Did you know that your kidneys can reflux? And that there's a scale measuring the reflux? And that having kidney reflux in the 4 or 5 range usually requires surgery? And that kidney reflux is detected by inserting a catheter in you-know-where, filling the bladder with liquid, and watching the kidneys do their thing on an X-ray?

Well, they do; there is; it does; and it is. And we found out all about it today.

You may (or may not) remember that early last year, Buddy had 2 UTIs (urinary tract infections). Standard operating procedure after a UTI is to send the child to our nearby children's hospital to have the kidneys checked out. And so there we went. His kidneys were poked and prodded and it was determined that, on the kidney reflux scale, his kidney reflux was a 3.

Today, we had a follow-up kidney ultrasound and cistogram (the thing with the cath) to find out if the reflux had progressed or abated. Two screaming fits (one during the ultrasound, one during the cistogram, oh, and one during the taking of the blood pressure . . . so make that three screaming fits) and four hours later, we were informed that his kidneys look good and his reflux appears to be in the same range as before, meaning no surgery is required at this point. We'll return for yet another visit to the urologist and his ilk in six months to again assess Buddy's kidneys. Who knew kidneys could be so exciting? And so, um, draining?

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.