Posts Tagged ‘Williams Syndrome’

How’s Your News - My Review

Monday, February 9th, 2009

I have to say that the show last night was everything I hoped it would be in all areas except for one…I wished it was longer than 30 minutes. I had great expectations for this show, and it completely exceeded those expectations. To accurately describe what I was hoping for, though, will require a fairly lengthy explanation.

I think I’m a pretty open-minded person. I don’t get offended by very many things, and I am not terribly concerned with being politically correct. I like to laugh at off color remarks, and I enjoy a lot of completely tasteless jokes. I’ll even admit that I have enjoyed some jokes about the misfortunes of others, and I’m not above laughing at jokes made at my own expense.I try to not take myself too seriously, for many reasons, but mostly because I realize that the world does not owe me anything. I have the right to “pursue happiness”, which does not mean that the world is supposed to make sure I’m happy.

I think too many people in this country misunderstand this right, and have become self absorbed and whiny, and spend way too much time worrying about who they might offend. We also have the right to free speech, which people seem to have forgotten. These are things which make this country great, and you can’t start making exceptions, no matter how well intentioned you are, because then where would you draw the line? And who says when to draw the line?

I’m not cold-hearted, or unsympathetic, or mean…I’m equal opportunity. Why wouldn’t I laugh at someone for doing something funny just because they’re “different?” And why should I feel awkward about it? They’re people too, and they have just as much of a right to act like a jackass as I anyone else. I think that’s my big thing. Just because someone is missing some genes, has a weak chin, or is missing one leg, has 4 nipples or pees the bed until they’re 12, shouldn’t make them exempt from the trials and struggles, joys and rewards that everyone else goes through. If you treat a child like they’re weak and unable to defend themselves, that’s what they will be. If you challenge them, and let others challenge them, you might be surprised at how well they can handle themselves.

This is actually a fairly edited version of my thoughts on this topic, but I did want to give some explanation as to my feelings on the treatment of people with disabilities. The short version is that I was worried, because of these beliefs that I hold about the way the world works, that this show would not get off the ground due to some public outrage at the treatments of the show’s stars. With all of this being said, I was really looking forward to the premiere of How’s Your News. I was so excited because they was finally going to be something that would let the general population of this country see people like this, knowing full well that they would be taking a chance that they would “fail” and be “laughed at.” They deserve this. Why shouldn’t they be allowed to be entertaining and funny? We can’t they be silly? There is absolutely no reason that they should not be able to go out and make fun of themselves, or let other people laugh at them. They’re adults, and if they’re happy with what they’re doing, why should we worry about it? This is an amazing opportunity for these people, and we should all be happy for them. They have a job. There are millions of people in this country right now who can’t say that, so I think they’re pretty lucky.

I thought the show was done really well. It was funny, and definitely had some send-me-into-the-giggles moments. Like when Sue is talking to the guy about the legalization of marijuana, and as he rides off, he says “I’ve gotta go smoke some pot,” and the look Sue has on her face. Or when Jeremy is talking about being really excited to see Michael Bolton. I got really tickled when all I could understand of what Bobby said for like five minutes was “Boo-yahh!” And I love how Sue curses like a sailor.

The thing I loved most? That they were real. They were fun, funny, sweet, crass…that’s what people are like. Those shows about people with disabilities that make them all seem like heroes are great I guess, and it is good to recognize the struggles that come with disabilities, but I always felt like they forgot the life that happens in between the “hero” moments. Why do we have to focus on the extraordinary? I think that makes people feel more like a “story” than a real person. How’s Your news shows you the life, and the trivial, not quite so “Lifetime movie” moments in the lives of these people. And I love it :)

And here’s what I hope that this show will accomplish, if nothing else: when people see someone like this on the street, they won’t immediately ignore them or turn away in disgust. Maybe this will get enough exposure for people who are different that people won’t think as much about it when they see them in real life. They won’t be so taken aback when they’re spoken to by someone with Down Syndrome at the bus stop, or when someone with cerebral palsy comes to their yard sale. On the other hand, maybe people will see that they don’t always need someone to think for them and treat them like fragile little porcelain dolls. Maybe they’ll just treat them like they would anyone else. For better or for worse, at least it would be equal. And as parents, isn’t that the best we can hope for?

Now, the part I was debating on whether or not I should write down…the reaction the show gave me that I wasn’t counting on. I look at Maggie for hours everyday, and only about once a week do I look at her and see Williams Syndrome. I see the pictures of kids online, and in the WSA brochures, and I know she looks like them, but I don’t usually see it. I see Maggie. And even though we have therapy three times a week, and I’m always paying medical bills for her echos and check ups, and thinking about our next trip to Kentucky, I don’t think about WS that much. I’m blessed with a daughter who is doing pretty well, and my own ability to tune things out until I need them. Watching How’s Your News broke that a little. Why is it more real after seeing someone with WS on MTV? Today, I saw WS in her face. I saw it in the way she was holding her hands out in front of her when she walked, with her elbows bent and her little wrists limp, kind of like a TRex. I know she has WS…but even though I know it, certain things will happen every now and then and its almost like it hits me just like it did the day we found out about her SVAS and heard WS mentioned for the first time. Maybe I do too good of a job treating her like a typical kid, and I forget sometimes that she is missing a few pieces that ought to be there. Maybe I’m still in denial, or maybe I’m coping exactly like I should be. Its just weird when something hits so close to home.

But, regardless of that whole thing, I still thought the show was awesome, and I was glad I watched it :)

How’s Your News!

Sunday, February 8th, 2009

How’s Your News premiers tonight on MTV! Please check it out, as there are three guys with Williams Syndrome on the show, and I’ve heard its probably going to be pretty funny. Its apparently not the standard show about people with disabilities, where they chronicle their struggles and shows uplifting tales of love and determination. The big question is: Is it offensive? I haven’t seen it, so I don’t exactly know what to expect, but I’m going to post a review about it later tonight or tomorrow, and go over all of my thoughts on the situation.

Here’s the link to the site:

Please watch, at least to see what it about, and to support these awesome, funny people :)

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!