Posts Tagged ‘Supravalvular Aortic Stenosis’

SVAS and why Google Analytics is awesome

Wednesday, March 4th, 2009

So, why is Google Analytics awesome? Because it informed me that people have visited this blog after searching “how serious is Supravalvular Aortic Stenosis.” This blog is actually listed on the first page of results for that particular search. And after seeing this, I realized that the last time I posted anything about that was when we first got the diagnosis, and this made me realize its time for an update.

I know how scary it is when you get a diagnosis, and all you see out there are the tragic stories, or the cold medical jargon. I hope this helps provide an alternative view point from someone with a much more hopeful story :)

Maggie got her diagnosis this time last year after her pediatrician heard a heart murmur, which lead to an echo (SVAS found), which lead to the suspicion of Williams Syndrome, which lead to a FISH test at the genetic center to confirm WS. Since that first echo, Maggie has had an echo once every 6 months. She’s goes back for her next echo next week. She has never had to have a sedated echo, but I attribute that to the fantastic pediatric cardiology team that she sees. There are really wonderful, and super fast.

Maggie’s SVAS is very mild. Her cardiologist told us when it was first diagnosed that its just bad enough that its there at all. This means that she has a very slight narrowing. He said that it may be like this the rest of her life, it may get worse and require open heart surgery, or it may go away completely. There’s no way to know. She will always have to have it monitored regularly, even if it does appear to “go away.” But, if it stays like this, she should never have to worry about limited activity or anything like that.

For children who have severe SVAS, open heart surgery is usually necessary. Maggie’s cardiologist told us that the procedure is not really complicated, and that there is a very high success rate for it, so I assume the problem is usually mostly fixed with surgery, if not completely fixed.

At her last echo in the fall, there had been no change, and if its still barely there this time, we may be able to go in for the echos once a year now instead of twice a year. I’m hoping that when we go back, it will not have changed for the worse, or maybe have even changed for the better. We’ll be praying and keeping our fingers crossed, and I’ll update once we get the results.

Happy Singing Elf Syndrome

Wednesday, April 9th, 2008

So Maggie has Williams Syndrome. I call it “Happy Singing Elf Syndrome”, because that’s the short description of some symptoms, and I need to find humor in any situation. Of course Tyler and I would have a child with an extremely rare, and pretty weird, genetic disorder. I mean, everyone has heard of Autism and Down Syndrome, and people kind of understand what is up when you say “My kid has this.” With WS, no one knows what it is, not even some doctors, and when you explain it, it almost sounds like you’re making it up. The short version is that Williams Syndrome is a micro-deletion of chromosome 7, which means Maggie is missing some genes. When she was made, the genes just decided to not show up on time like the rest of the genes (they must have been Tyler’s…I’m always on time.) People with WS are usually small, with “elfin” facial features, superior abilities in music and vocabulary, deficiencies in spatial reasoning, mild to severe heart problems, mild to severe developmental delays and mental retardation, and they are often extremely outgoing and happy. They aren’t afraid of strangers or worried about what is appropriate behavior in social situations, but they are extremely caring and fun. Hence “Happy Singing Elf Syndrome.”

*I apologize in advance if anyone reading this feels that I am insensitive…I just have an odd way of coping, I guess. I know it is a very serious disorder with very serious consequences on our children’s lives. *

Here’s the story of how we came to find out that our little girl is actually an elf:

Maggie was born very small (4 lbs. 12.5 oz.) at full term. The doctor’s said that I may just have small babies, and that she was healthy, so we shouldn’t worry. She was nursed almost exclusively until she was 7 months old, so the doctors said that breastfed babies were smaller and there wasn’t anything to worry about. Maggie gained weight steadily, seemed to be a good little eater, never got sick, never got a fever, never got diaper rash…nothing. By all accounts, totally typical baby. She started rolling over, sitting up, crawling, etc at about the time that she should start these things, so no developmental issues that we knew of. She babbled, said “mama,” “dada,” and “goo-y goo-y goo-y,” so we figured all was well there.

At her 9 month well visit, her pediatrician heard a heart murmur. She said that it was fairly common for children to have a heart murmur at some point during childhood, but had us referred to a heart hospital for an echocardiogram. About two weeks later, we had the echo done. It took an hour to get Maggie to chill out and let the lady do they echo…she was really tired, but didn’t want to go to sleep while so much was going on. We left, figured there wasn’t anything to worry about, and basically forgot about it.

About a week later, the pediatrician calls and says that Maggie has a narrowing in her aorta, and that this narrowing is associated with something called Williams Syndrome, which makes people small and look like elves. She wanted to get us appointment with a pediatric cardiologist and a geneticist.

I start flipping out. People have been telling us that Maggie looked like an elf her whole life, she’s always been small, and this heart thing…too much to be coincidence. I frantically scour the internet reading everything I can find. I see something that says their lifespans are limited and their children have a 50/50 chance of also having it. Pardon my French, but that’s when I lost my shit.

I was angry at myself, because even though I knew that Williams Syndrome happened totally randomly and it was no one’s fault, I felt like I had let her down. I was angry at everyone who had a baby with nothing wrong with them. I was angry at me and Tyler, because I felt like our baby was going to suffer because of some karmic retribution for everything bad we’ve ever done. I was angry at everyone and everything. I was distraught. I didn’t want my baby to spend her life in and out of hospitals and doctor’s offices. I didn’t want her to miss out on anything or have any additional difficulties, because the world is a tough enough place even if you’re “normal.” I thought about the best things that have happened in my life (solo road trip across country, falling in love with her daddy, and the best…having a baby), and I realized there was a possibility that she would never be able to do some of them. I was so pissed. Tyler took it very well, and that made me more pissed. “I’d love her just as much if they told me she was a fish” was his attitude. I tried to throw myself into my work, which wasn’t hard since I have been absolutely swamped for about 4 months. I played with Maggie, worked, played with Maggie, worked, maybe ate, and then passed out at night so that I didn’t have time to think about it.

The more I read about it, I couldn’t decide if I thought she had it or not. She had never been sick or been behind developmentally, so that made me think she didn’t have it. But she is small, has the facial characteristics, is very friendly, loves everyone (never fusses when she gets passed around from lap to lap), and she has always enjoyed music. But then, I thinks he would have had a lot of these traits anyway. Tyler is super friendly to everyone, and never met a stranger. Both of our families are very musical and creative. I thought my head was going to explode.

Our appointment with the pediatric cardiologist went well. They checked her out, and told us that her narrowing (Supravalvular Aortic Stenosis…narrowing of the aorta just above the aortic valve) was as mild as it could be and still be there. So that was good news. He said that he wasn’t going to schedule a surgery since it was so mild. If it gets worse, she may have to have open heart surgery to widen her aorta at some point, but we just have to monitor her for now. Echocardiogram every 6 months. She also has Branch Pulminary Stenosis (narrowing of the main arteries that go to the lungs), which most babies have, but it usually goes away by about 6 months old. He said that she looked a lot like the other Williams Syndrome kids that came to his office, but that the geneticist would be able to tell us more.

For the genetics appointment, they said they couldn’t see us until May. this was March. I wasn’t about to wait 2 months. I went to the Greenwood Genetics Center as a child, because they had a regular pediatric clinic at the time, and we contacted my old pediatrician, who happens to be one of the founders. He said he would love to see us, and fit us in before the end of March. Rock!

So we went, they asked us a million questions, checked Maggie out, and took her blood for the FISH test, which would tell us if she did in fact have WS. The Dr. told us that he would be very surprised if she didn’t have it, based on the SVAS, her size, and her facial features. Tyler wasn’t able to go because of work, but I told him everything as soon as we left the office. So, we decided that she probably did have it. Now what?

We waited two weeks for the results. Got the call (last Wednesday, I think) that she does have it. We’ve been pretty good so far. I think we were kind of expecting it, and have already kind of made peace with it. She’s not the little girl we thought we were going to have, and I absolutely hate to think that there’s anything wrong with her, but she’s still the same little girl we’ve been in love with for the past year and a half. I may still be in shock, and I may not have fully accepted it, especially since there doesn’t seem to be anything wrong with her. I don’t know. But I have been a lot better than I thought I would be. She’s still Maggie, I still love her more than anything, and I’m still going to work my butt off to make sure that she has a good life. She, so far, doesn’t seem to have it very severe, and we’re just so thankful for that.

I also joined the Williams Syndrome Association and subscribed to the listserve email list. I think that is one of the best things I could have done, because everyone on there was very supportive, and had lots of information. Although I don’t really want to be in their “club,” since it means that I am the parent of a child with an extremely rare genetic disorder that may cause mental retardation, heart problems, and a short lifespan, but I am very thankful that there is a resource like this out there, and I think it will be very beneficial to be a part of it. Thank you to all of the WS mommies and daddies for your support!

So, tomorrow we have our meeting with the geneticist and genetic counselor to go over the results, diagnosis, and what we do next. I’ve got my list of questions ready, Tyler is going to get to go, and Maggie will be hanging out with her Poppa, so I think we’re good to go.

Wish us luck!