So I guess I kind of left off on a bit of a sad note yesterday.

Sorry about that.

10-11 months old

Really, those first few weeks after we heard that they thought she had Williams Syndrome were the hardest.

I read a poem, during that time, that didn’t give me the hope I’m sure it was intended to convey. I was new to the experience of having a child with special needs, so I didn’t really get how accurate it was back then, and it really just made me incredibly sad.

I’m not going to risk being hauled off by the copyright police to post this, but if you want to catch all of my metaphors, you should take just a minute to read Welcome to Holland. It’s really worth it, I promise.

I loved and hated that poem.

I loved the sentiment, and the cheery “it’s really not so bad, just try to enjoy it” vibe. But I hated that it made me feel like the floor was about to fall out from under me. I think it’s the part about the loss of a dream. Or maybe it’s the whole idea of “this is where you are and this is where you’re going to stay.” It just makes it sound so…so…final? Kind of hopeless? Depressing as shit?

And maybe it was reading what other parents of kids with WS wrote about the poem, and not the poem itself, that made me feel this way…but I felt like I was supposed to feel like my baby had just died. That I was supposed to grieve the loss of the Sadie I knew and accept this new Sadie as another person who was now “Sadie with Williams Syndrome,” and that I was supposed to “learn a new language” and totally change every expectation that I had before the diagnosis.

First birthday, with green icing mustache

Now, it’s not that I think this poem is wrong or terrible or anything like that. I think it is a very accurate way to describe the experience of raising a child with special needs…because I’ve read many, many parents say that it described their experience exactly.

It just doesn’t really describe mine.

I didn’t want new guidebooks. To continue this lovely metaphor, unless the new guidebooks became absolutely necessary, I was just going to stick to my old method, which was something like scribbling notes and paper-clipping articles into my own little spiral bound notebook covered in peeling Lisa Frank unicorn stickers.

Basically, I was just going to keep going with the “whatever works for us” method of parenting based loosely on what our parents did and random crap I read that sounded like a good idea. We would make sure she had what she needed, but we would continue to treat her like she had no limitations.

Maybe I have great coping skills because I grew up around an aunt with a disability. Maybe I haven’t really gotten to that point yet because Sadie’s medical and developmental issues are so mild. Or maybe I have terrible coping skills and one day I’m just going to curl up in a ball in the corner and babble incoherently until they cart me off to Bull Street.

I don’t know.

Maybe all of this was just me not wanting to accept the diagnosis…again, this is all open to interpretation, and I’m sure a therapist would love to get a hold of me for a day. All I can do is tell you what happened and what I did…whether it’s what I should have done or not. I’m pretty sure that “giving yourself time to heal” and “taking some time off” come highly recommended in a situation like that.

12-14 months old

But by the time we actually got the confirmed diagnosis about a month after the phone call, the shock had worn off a bit, and I had completely switched into “go mode.”

The geneticist gave us a list of everything that she needed to be tested for, all the specialists who would need to evaluate her, and all of the other things we should be doing. They referred us to the state agency that assists families in providing early intervention services for children with special needs, and a family support organization.

So, I started making appointments to get for her vision and hearing tests, kidney ultrasound, calcium tests, motor and speech evaluations…

etc. etc. etc.

I contacted researchers doing studies on Williams Syndrome and joined the WSA. I subscribed to blogs of other WS families and and met with this person and that person from this agency or that…and basically made a career out of finding out exactly where she was with everything, what she needed, and how to get it.

12-14 months old

And somewhere in all of this, I realized that I was ok with the diagnosis. I wasn’t grieving the loss of the child I thought I had, I wasn’t hating my life and spiraling into insanity. I was pretty overwhelmed, and had no idea what I was doing…and there were plenty of days when I wasn’t sure exactly how I was going to handle everything that had to be done.

But I found out really quickly that I just have to think of her just like I would think of her without Williams Syndrome. I try to treat her like I would if she didn’t have it, expecting the same things from her behavior as I would any other child…challenging her, comforting her, disciplining her and nurturing her in a manner befitting the particular situation.

And I realize that this is a luxury. Maybe it’s a luxury that we’ve afforded ourselves because we bury our heads in the sand, or maybe it’s a luxury that we have because of the mild nature of her disabilities. But I just don’t think about Williams Syndrome every day.

I look at her and see her. She is my precious little girl first, in my eyes, and somewhere down the line after “hopelessly in love with bacon” and “world’s best giver of hugs” lies “child with Williams Syndrome.”

And that is what I think got me through the first year, when everything was out of control and I was on the phone with someone at least once a week going over this or that and trying to learn to spell “supravalvular” and memorizing my husband’s ridiculously long insurance ID number and keeping up with mountains of appointment cards and applications.

What got me through was being able to look at her and see the same little girl I gave birth to, growing and learning and becoming a beautiful little lady. She wasn’t lost…I didn’t lose the child I thought I had. She was still there, just like she had been since she was a tiny little bean in my belly…all that had changed was my understanding.

I wasn’t in Holland.

We were still on the plane…

trying not to get air sick…

enjoying the flight, marveling at the amazing sites around us.

…and waiting to see what kind of adventure this amazing little girl would take us into next.

12-14 months old

Please note: everyone handles things differently, and I’m not trying to minimize anyone’s pain by saying any of this. When it comes to the health and well-being of your children, I think any emotion is completely justified, and no one has the right to say what is and what is not appropriate. This is just my catharsis, and I hope that no one takes it as anything other than what it is intended to be.

If you would like to participate, attend, or make a donation, you can visit our walk website here, or go to our fundraising page on the Williams Syndrome Association website here.

* And please note that names are changed for privacy…sorry to be so confusing and all double-o-seven wannabe on ya.

Sadie, 2 months old

I can tell y’all that I’ve written this post ten thousand times in my head.

I’ve written novels about it, letters to Sadie about it, and journals about it…all without paper, as I’m laying awake in bed or sitting on the porch in those precious moments alone.

Because it’s just too hard. It’s too hard to type through tears, and too hard to hold myself upright when my stomach is all in knots.

This is how it feels when I actually think about it.

Most of the time, I’m fine. I don’t think about WS and the future, and I just look at her and see only my sweet, amazing little girl…without a diagnosis, without challenges, without special needs.

But when it hits me, it’s hard to swallow it back down and move on. It’s hard to not lose it completely, which is why I try my damnedest to make sure it doesn’t hit when anyone else is around. Not even Kyla.

But, it’s about time to get it out, so we’ll start from the beginning.

Sadie, hours old, with her proud Daddy and drugged up Mommy

I became a mother on May 14th, 2007, when my precious baby girl entered this world, screaming and hollering like you wouldn’t believe. I really feel like I was kind of born that day, too. Because once I became a mother, it was like my entire life had a completely different meaning than it did before, and it felt full. Cheesy, I know…but very true.

The pregnancy had a few minor scares, but all were thought to have been false alarms. Soft markers were found for this and that, but she didn’t have any of what they thought she had.

When she was born, she was itty bitty. No one could believe how small she was, and why she wasn’t in the NICU. She was born by induction on her due date, and seemed perfectly healthy. Her apgar scores were actually higher than her younger sister’s.

So, I had “tiny babies,” which seemed ironic since I also have “birthin’ hips.”

Sadie, 5 months old

At every doctor’s appointment, everything looked “great.” She was doing fantastic. Always on the lower end of the normal range of development for her age, but I was assured that anything within “normal” was fine.

In hindsight (it’s 20/20, you know), she never picked anything up as quickly as she should have. She never really smiled or laughed like we now see her little sister doing. She did things that we thought were smiling and laughing, and other things that, as first-time parents, we thought were normal. With Sadie, we would answer the developmental checklist questions at the doctor’s office and say to each other “does she do that? I think so. I don’t know.”

Now, in general, she really was doing everything about on time, and we had no way of knowing that anything was wrong. On paper, everything was going well. She gained weight ok for a breastfed baby, and everything really was within the “normal” range.

Sadie, 6 months old

But as she started getting a little older, she did things that seemed odd. She would rock back and forth for seriously hours. She would sit in one spot and just look at things, never seemed really in a hurry to sit or crawl or walk, and everything just came so slowly. She was almost crawling for months before she actually did it.

We didn’t know what she was supposed to do…we just thought she was really chill (just like her Daddy.)

I really think that if she had not been our first child, we would have known something was going on.

And to be honest, I did know. Not a month before the heart murmur was found and we were referred to the cardiologist, we had been visiting some friends and Sadie’s best friend, who is three weeks older than she is, was there. I watched them together, and I knew something was not right. I knew she was behind where she should be.

It was so hard to push away the thoughts…

Why is that other baby sitting so much better than my baby? Why isn’t my baby saying MaMa yet? What if my baby is not going to be smart?

It’s not that I was ever like “OHMYGOD, my child is going to be dumb! Oh NO! Send her back!”

Nothing like that at all. Ever.

But I just could not help wondering why she was so far behind her friend, and all of the other babies we saw, for that matter. I talked to Kyla about it (more like sobbed and snorted and blubbered about it, to be perfectly honest), and he told me that I could not compare our child to other kids..that it would drive me crazy and that she was fine.

And I called my parents. And they basically told me the same thing.

Everyone said that she was fine, so I just tried to let it go.

Sadie, 8 months old

And then they found the heart murmur at her 9 month well visit, and we were referred to a cardiologist for an echo. They said it was normal for children to have heart murmurs in infancy, but they just wanted to be sure.

So we went, had the echo, and kind of forgot about it, because, again, it was nothing to worry about.

Then the pediatrician calls one night. I assume she talked for a bit and said some nice, reassuring things, but in my head, all I remember is “Your daughter has a narrowing in her aorta, which is associated with William Syndrome, which makes people small and look like elves.”

So we get off the phone and I run to the computer and Google it. I find out the real name of her heart condition (Supravalvular Aortic Stenosis) and then I find Williams Syndrome.

People had been telling us all of her life that she looked like a little elf, and with the heart condition…I just knew she had it. I’m frantically Googling and looking at medical journals, blogs, charities…everything.

And I see kids smiling huge smiles with tiny teeth. And curly hair. And all this about being friendly and developmental delays.

And I see that if they do have children, their children have a 50/50 chance of having it, too.

And then I see “decreased life span.”

And that is when I promptly lost my shit.

I was terrified for her and what she would have to go through. I was terrified for us and how we would handle it. I was in complete shock that there was a chance that my baby might have to have heart surgery.

And I was pissed.

I was pissed at myself because I just knew that it was my fault. I was her mother, and it was my job to make her and bake her and raise her and keep her safe. And I failed.

I didn’t care how much I read about it being a total genetic accident…in my mind, I may as well have ripped those genes out of her with my bare hands, because it was totally and completely my fault.

Kyla handled it very well. He told me that he would love her just the same even if they told him that she was a fish.

I loved him for that, and I loved him for crying with me and holding me when I needed it and being there, even if he didn’t show emotion on a day-to-day basis like I do.

Sometimes it was hard to see him handling it so well, when I felt like I was falling apart.

Sadie, 11 months old, right around the time we got the official, confirmed diagnosis

Every day, I would wake up, go about my normal routine, and then it would just hit me. I would repeat it to myself that my daughter has Williams Syndrome…that she has a genetic disorder. It was like I felt guilty if I forgot about it. I had to remind myself it was there, and it was really happening.

I would hold her a little closer, just a little longer, and I would try my best to study the details of her face, her expressions, her actions.

Because I had kind of been taking this amazing little gift for granted. I had just sailed on through, expecting everything to be fine and dandy with our baby, spending my time worrying more about how quickly she was crawling or what cute outfit to get her.

And then after that one phone call, everything was different. Everything that I had half-heartedly noticed was now precious, and every moment was something I had to remember.

Because right then, I just wanted her to be healthy. I wanted to take everything back and trade anything in my power to make her “whole.” I wanted those genes.

And I still do.

I would gladly give anything of myself that I could to make her “well” and to keep her from having to go through everything that we know is coming.

Sorry, y’all…this is going to have to be continued…

If you would like to participate, attend, or make a donation, you can visit our walk website here, or go to our fundraising page on the Williams Syndrome Association website here.

* And please note that names are changed for privacy…sorry to be so confusing and all double-o-seven wannabe on ya.

Welcome to what I am lovingly going to refer to as “Sadie* week.”

Sadie at her third birthday party last weekend, giving Mommy one of thos “get that camera out of my face” looks

See, not only is her birthday this week, but it is also the first ever National Williams Syndrome Awareness Week. And I thought this would be a perfect opportunity to get some things out.

There are so many things that I’ve wanted to write about for so long, but I’ve always had a hard time committing myself to putting those thoughts out there for all to see. Maybe I’m worried about offending someone or sounding like I’m gloating, or just sounding like a big asshole. I don’t know.

But I’ve finally decided that if I get it all out at once, maybe it will make more sense and be taken in the context in which it was intended, and not just as individual thoughts. Because the individual thoughts tend to sound a little odd sometimes.

Over the next few days, I’ll discuss her birth and early life, the diagnosis, learning to live with Williams Syndrome, my concerns for our family and my concerns for her future.

With any luck, it will provide some info for other people dealing with similar situations and maybe let people in our lives see a little more of how our life actually works.

But to start out Sadie Week, I thought I’d go easy today and just tell you guys a little bit about Williams Syndrome and Awareness Week.

Sadie, around the time we got the diagnosis (10 months)

My real life friends and family who read this blog know all about Williams Syndrome, the rare genetic disorder with which my oldest daughter (whom I call “Sadie” for privacy reasons on this blog) was diagnosed at nine months old.

But for those of you who don’t really know us, or don’t know much about Williams Syndrome, I’ll give you the basic info on this disorder. Williams Syndrome is described as a microdeletion of chromosome #7. Individuals with WS are missing one copy of about 26 genes on this chromosome. It’s different than a lot of genetic disorders in that neither of the parents carry a recessive gene or anything to cause it…it just happens. An accident, a fluke…no known cause whatsoever.

I like to think of it like this…when all of the genes were getting together for their little Sadie-making party, 26 of them were probably still messing with their hair, showed up too late, and everyone else had already left to go to the even-cooler-party in my uterus.

Most people with Williams Syndrome have a heart condition called Supravalvular Aortic Stenosis, which is a narrowing above the aortic valve. This is the most serious health concern related to WS. Thankfully, Sadie’s is very mild, and we only have to get it monitored once per year. That is not often the case, though, and many children have to have open-heart surgery in infancy, and possibly repeated times throughout their lives.

As I said, we’re very lucky that hers is mild so far…but we’re really lucky that we saw the cardiologist that we did. With Williams Syndrome being as rare as it is, her pediatrician didn’t even know anything about it. She heard a heart murmur, referred us to the cardiologist, and he saw the SVAS and told us that he suspected she had Williams Syndrome. He knew about it because he had another patient who had it. If we had not seen him–if we had not seen someone who happened to have knowledge of it–we may have never known, and we may have never gotten her all of the amazing help that she really needed.

See, her delays have never been severe enough that we would have caught on. Granted, I had suspicions, but I’ll discuss that another day…I’m trying to not be too deep this early in the week.

Anyway, the key to getting a diagnosis of a rare disorder is making more people aware that it exists. Williams Syndrome is extremely easy to diagnose…one simple genetic test can be done to confirm it. And WS also has a very particular physical profile that is fairly easy to spot.

But people just don’t know to look for it, because they’ve never heard of it.

Sadie, shortly after she was born

When Sadie was born, she weighed 4 lbs 12.5 oz, and we knew that was tiny. But they said that maybe I just have small children, which I do, but she never caught up on the growth chart. Her mouth was always hanging open just a little, and her nasal bridge never started sticking out like other kids as they got older. Her eyes were so blue, and almost looked like they had those Japanese cartoon starburst-glowy things in them. Oh, and don’t forget the cutest little upturned nose.

Yep, those were all characteristics of WS…and they’re so apparent, now when we look back at photos of her as a baby.

Williams Syndrome is also sometimes called “Elfin Faces Syndrome,” because of how much people with WS, especially children, look like little elves. I like to think that maybe they’re the original inspiration behind the whole mythology.

We joked when we first got the diagnosis that if she had to have a genetic disorder, this seemed like a pretty good one to have, primarily because of the personality profile associated with WS. Almost all individuals with WS have an extremely friendly, outgoing personality. They’re very loving, very caring and can appear to be very happy people. Many of them speak in a sing-song voice, and there are reports that people with Williams Syndrome have a higher probability than the general population of having perfect pitch or being musically gifted.

There have been several notable studies recently (whose validity I cannot speak to, since I’m not a scientist or anything) that have found that people with WS don’t have an innate racial bias, and studies that have claimed to have found a gene that relates specifically to intelligence through the study of people with WS. Some people have referred to research of Williams Syndrome as vital in the study of the human genome.

I don’t know about all that, but I do know that this is really a wonderful, amazing, fascinating and unique group of people to have the pleasure of knowing (and I’m really not just saying that because my daughter is one of them…really.)

Sadie, around 6 months old

So, since our lives have been directly effected by this disorder, and since the Williams Syndrome Association has provided us with some amazing resources over the past few years, I was inspired to help organize a local walk to raise awareness of this amazing cause.

On Saturday, May 15th, at 2PM, I’m co-hosting a Walk For Williams in Ware Shoals, South Carolina (a cute little town that is graciously donating the use of a park). Our walk will take place on the same day as about 40 other walks around the country, all in honor of the First Annual National Williams Syndrome Awareness Week.

We’re hoping to have a wonderful time, raise some money for the WSA, and most importantly, raise awareness in our community (and, indirectly, raise the probability that other children will get lucky like we did and get a diagnosis in time to get them the medical and developmental assistance they need).

If you would like to participate, attend, or make a donation, you can visit our walk website here, or go to our fundraising page on the Williams Syndrome Association website here.

We would love to have anyone who wants to come, whether they know us or not. And any donation (even 5 or 10 bucks) would be greatly appreciated (and, I’d like to note, is tax-deductible).

Please visit the Williams Syndrome Association website for more information on Williams Syndrome and the WSA’s programs.

Thank you all so much for reading all of this…you have no idea how hard it has been for me to get all of this down, and the soul-baring has barely even started.

* And please note that names are changed for privacy…sorry to be so confusing and all double-o-seven wannabe on ya.

Oh, and PS…if you didn’t catch My Mama’s guest post for Mother’s Day (and a picture of me with purple spiked hair in high school), you should really check it out.