Monday, July 19, 2010

Where we stand

So at this point, I think I'll stop the chronological telling of Roo's story, and just start to fill you in a little differently. It's been about a month since his initial diagnosis, and there is still lots to tell, but I think I'll break it up a little differently. Today I'm going to focus on what's been happening with him medically over the last month, primarily because I can't handle talking about anything emotional today.

First, if you are like me, you may kind of sort of know what Down syndrome is, but you don't really remember because you never figured you would need to know. So let me give you the quick explanation. Most of us are born with 23 pairs of chromosomes, half from our mother and half from our father. Down syndrome is typically caused by an extra 21st chromosome, which is why it is also sometimes called Trisomy-21. The physical characteristics are often recognizable, but can vary from person-to-person, both in what characteristics they have and in their degree. In Roo, he has low muscle tone, the Simean crease that I mentioned before, small folds at the inner corners of his eyes, and his eyes go up slightly at the outer corners.

A diagnosis of Down's requires a blood test called a karyotype. In this test, a blood sample is taken and then all of the chromosomes are lined up in pairs from biggest to smallest. I won't lie to you, I've seen pictures and it's pretty darn cool. I can't believe we have the technology to do that. This test is, as you can imagine, a bit complex, so it takes a couple of weeks to get the results. A quicker test, called the FISH test, can be run to give a preliminary diagnosis. For some complicated reasons, this is not considered to be quite as reliable, but it is a good starting point. Basically, if it shows that a child has Down syndrome, it's pretty much accurate—but if it comes back negative, there's a chance it could be a slightly different type of Down's that doesn't "show up" with the FISH. The FISH is quicker, but still takes a few days. (Before I go on, please know that this is not an official medical explanation. This is my dumbed-down understanding and the best way I can explain it to family and friends.)

So Roo had blood drawn for both the karyotype and the FISH. The doctor also wanted to run a CBC (Complete Blood Count) and to check his thyroid. (It is very common for people with Down's to have thyroid problems.) The CBC was run because the doctor had Roo's chart from his stay at Children's, but not the follow-up work we'd had done after he'd been discharged, and he was very concerned about Roo's H&H levels. As he explained it to us, most infants have an H&H level in the low 50s, and anything over 60 was very concerning. Roo's H&H level while he was in Children's was 74. And that was after it had started to come down. It had never been explained to us that way, and I was actually kind of glad, because that is just plain scary.

Anyway, his thyroid and CBC, as well as all of the other basic tests that they ran, came back normal, and we were very thankful for that. And then we waited for the results of the other tests, the "real" ones, the ones we wished hadn't needed to be run.

When we left the specialist's office that first day, he'd been so confident of his diagnosis that it left no doubt in our minds that Roo did indeed have Down's. As the days passed, though, I found myself explaining it all away. The crease was obviously inherited from his daddy, the low muscle tone was a result of him being "preemie-like", and I couldn't even SEE the little folds that the doctor was talking about on Roo's eyes… etc, etc, etc. I could justify everything. Surely the doctor was wrong—my baby did not have Down syndrome. God hadn't made me to be a "special needs mom"—that's not who I am, so that's obviously not who my baby is.

The following Monday, almost a week after the initial appointment, I got a call from the genetic counselor. The FISH test had come back positive for Down's. It wasn't quite as much of a blow this time as it had been that first day in the doctor's office… but it was far from easy.

About 10 days after that, we were back in the specialist's office to get the results of the karyotype. (Yes, I know, I have kind of skipped over all of the feelings and adjustments and so on… remember, I can't handle that today. I'll be emotional and vulnerable and transparent and all that with you another day.  For now let's just get caught up on what's happening, 'k?) It was a rather bizarre experience because the genetic counselor had called us to schedule the appointment because the tests were in, and again that morning had specifically said that the tests were in and the doctor would go over them with us… and then one of the first things the doctor said when he came in was, "Well, we don't have the results from the lab work yet." Ummmmmm… what??? Why exactly are we here, then? I'm still to this day a little confused about exactly what happened and why we didn't get at least part of the results that day; but basically the doctor told us that another of Roo's chromosomes looked "funny" during the karyotype and they would have to run more tests to look into the possibility of another chromosomal abnormality. Ugh. I asked the doctor for more specific information about this other chromosome, but he remained pretty vague throughout the conversation. To be honest, he didn't seem overly concerned about it—I think it would be so very rare to have two completely separate chromosome problems in one child that he doesn't really think it's a high probability. He did say that sometimes families can have a specific chromosome that looks "different" than other people's but doesn't really affect anything—just an inherited trait.

Still, when I got home that afternoon, I did some digging of my own. I searched online, and I called my sister-in-law, who has her Ph.D. in… well… something complicated but that I typically describe as neurobiology (Sorry, Mary, I know that doesn't do justice to your actual title…!) and who is doing some work at the Cleveland Clinic this summer. She talked to a friend there in genetics, and between her info and my own research, I pulled together some information on the implications of a problem with chromosome 15 (the "new" chromosome they are investigating in Roo). I won't lie to you, friends, the possibilities are scary. But they are very rare… so who knows. "Rare" does not mean "impossible"… but we'll see.
Yes, I said "we'll see", as in, we don't know the results yet. I am hoping to hear from the geneticist's office this week, but even then they will just call to tell us the results are in and ask us to set an appointment—we won't get to hear the actual results until we're in the office.

In the meantime, Roo had an echocardiogram last week. This is standard for all children diagnosed with Down's, as 40-60% of people with Down syndrome have a heart defect. The geneticist and genetic counselor both told us that they would likely have noticed something different about Roo's heart from a standard checkup if there were a problem, but asked us to have the echo done anyway. We made the appointment, and again made the mistake of truly thinking that nothing was wrong, that we were just ruling something out. We have GOT to stop doing that. Roo has 2 holes in his heart. One is small and has almost closed itself up. The other is a medium-size hole, too large to close on its own. Fortunately, it does not cause any problems for him now—he can function normally with it all through childhood. However, it would cause problems for him as an adult, so in a few years (probably when he's around 5) they will patch it. They do not have to go in surgically to patch it, though; they can insert a catheter and patch it that way. So… I guess as far as heart defects go, that's the one to have, eh? In the meantime, we'll be following up with a cardiologist in about a month for another exam of his heart, and probably once a year after that.

The heart defect is… truly not the end of the world. Jon and I didn't even cry when they told us. As I told the ultrasound tech when she asked if we were OK, "We just take it one hit at a time." And again, it is something treatable, with a nearly 100% success rate for the procedure. But it is just one more hit. I realized after the appointment that I had believed that there wasn't a heart problem because… well, because part of me still doesn't believe that he even has Down syndrome. If everything else is OK, maybe they're wrong about the Down's. Maybe the FISH test gave a false positive. Maybe the lab just messed up his lab work and needed to double-check. Maybe he's just behind because of his problems at birth. Maybe this is all a bad dream.

But it's not a dream, it's life. It's our life. And that's where we are now, waiting for confirmation on the Down syndrome, waiting and hoping to hear that there is not a problem with chromosome 15, waiting to meet with the cardiologist again. Waiting for it to get easier.


kmcaffee said...

Oh, Katy! I found your blog through the Zehlahlum blog which I found through a friend of mine that has adopted children (we have that in common..), just wanted to give you a bit of background as to HOW I ended up here. ANNNNYYYYWWWAAAAYYYYY! I started reading Roo's story today and have been fully engrossed and generally ignoring my children on and off all day. What a testimony to grace under fire you and your husband are. I have a few friends that are parents to children with DS and am certainly not comparing, but man, your chapter where you describe how you learned about Roo! Wow! I don't even have words!

And I have to say however, that I think you are wrong about being chosen to parent this child! God knew that you are THE perfect parents for Roo and He gave you the strength handle all of this! And to share it with all of your readers. Simply amazing! :0) Kelly

Krystalynn H said...

Hello! I'm Krystalynn. I was looking through blogs and stumbled across yours, I enjoyed reading about your journey with little Roo. Bless you and your family, you sound like a great mom! Definitely going to follow your blog from now on :)