Williams Syndrome Wednesday: Not Ok Holiday

by , on
Jan 1, 2014

I took a little blogging holiday over the holidays. There was a lot to process and I couldn’t quite bring myself to form my thoughts and feelings into words.

First, I found myself reliving my delivery and NICU experience as we celebrated Obi’s first birthday, only now I was able to apply the Williams Syndrome lens to what happened. This made me feel the need to go back over every painful moment to see if knowing about the WS might somehow change how I felt at the time or the decisions we made. Those were dark days, and reliving them was no better. I don’t know what difference it would have made, other than giving me something else to worry about.

Then there was Christmas. For me, the holidays are steeped in tradition. From the cookies I bake to the ornaments I hang on the tree to what we eat at meals, tradition rules the days. I was reminded time and again as I went through the rituals, that sweet Obi may never follow in those footsteps. She may not be able to make cookies on her own or whip up a turkey dinner. She may not be shopping for gifts – reveling in the thrill of the hunt – designing wrapping schemes and sneaking around.

She won’t have kids of her own. She won’t be Santa. She won’t have a home of her own to put up a tree and hang the ornaments that my grandmother gave to me.

I totally get that lots of people don’t have these things. Many of my favourite people don’t have kids by choice or by circumstance. Some people just don’t like to bake, can’t cook, hate Christmas, marry into another faith and choose not to celebrate. There are no guarantees. But knowing already. Knowing now that it may not be up to her…that these thing may simply be out of reach for her, well it nearly broke my heart in two.

We had a wonderful Christmas. The company was fabulous. The food was fantastic. The boy was filled with glee. Santa was generous.

Even so, it was a hard time. It’s been a hard year. There’s no way to know if next year will be better or worse. I know so much more than I did sitting in the NICU trying to get a 3 3/4 lb baby to eat. But in knowing I have learned how little I know.

Sigh. I’m hoping for a better year.

Williams Syndrome Wednesday: The Joy Edition

by , on
Nov 28, 2013

I wrote an entirely different post. But when I read it, it was well… sad. You see, it was this time last year that things started to go south fast in my pregnancy. Warning signs lead to tests lead to hospital bed rest lead to more failed tests lead to worry about baby’s safety lead to emergency c-section lead to Christmas, New Year’s, my birthday in the NICU lead to home on RSV season house arrest lead to a laser focus on Obi’s delays lead to tests lead to diagnosis lead to more tests, therapies, adjusting to the new normal.

It’s been a year filled with the unknown, worry, disappointment, grief and challenges. It’s been a very, very long year. And when you stop there, it sounds like that’s all it’s been.

Which is far from the reality. As with any new baby, there have been all these tough times, but there has also been unimaginable joy. I suppose this is also the real lesson I’ve learned as a parent of a special needs child. It is true that the lows are lower. The hard times are harder than with a typical child, there’s no question. But these don’t take away from the splendour or the majesty or the joy.  I think they probably make it all a little bit sweeter.

The calendar is triggering all these memories of how things went from what I expected when I was expecting to this giant uncharted sea that is Williams Syndrome. But the calendar is also signalling my most favourite time of the year. It’s easy to stay at the pity party and wallow in the woe-is-me’s, but that’s not gonna help anything AND it’s going to mean next year I’m looking back at this year as another one that fell flat.

So to try and move past what happened last year and embrace THIS season, I’ve decided to stuff my advent calendar with little reminders of all the magic that happened this year. To actually count my blessings – 25 of them – and take 25 days to reflect on what a wonderful year it’s been. Really, learning my child has Williams Syndrome is just ONE thing that happened. This also happened:

1. Our infertility journey came to an end when we welcomed the sweet baby girl that completes our family.

2. We were fortunate to spend our NICU time in an incredible environment and never worried for one minute about the love and care Obi received.

3. Although Obi ultimately didn’t become a ‘nursing’ baby, the time we spent trying was filled with sweet bonding moments.

4. My eternal newborn still has that sweet baby smell, at almost 1 year old.

5.  The boy has blossomed as a loving and nurturing sibling.

6. Obi’s first smile very nearly melted me into a puddle of goo and every one since has been glorious.

7. I have learned are really good people in the world whose sole purpose is to ensure children shine.

8. I got to experience the feeling of holding a new (day-old) baby again when there had been many days I thought I never would.

9. People have been gentle with me when times have been rough.

10. My business is fine despite taking a backseat.

11. I realized how grateful I am that we live near Sick Kids.

12. Obi saw many specialists but so far has no concerning health issues.

13. Obi laughed and it was magical.

14. I learned that small babies stay ‘babies’ longer – and I love babies.

15. I took a stand against something and found others stood with me.

16. Through Mommydo, I came to feel I am not alone.

17. I got to take long walks with a sleeping baby in a stroller.

18. I got to watch a lot of great TV while a baby did not sleep at night.

19. I made new friends that I would never have met if things had been different.

20. Obi sat for the first time and I thought my heart would burst with pride.

21. I made nice with my bre.ast pump and have met the goal of 1 year of bre.ast milk for my little miss – a huge accomplishment.

22. I brought a tiny human into the world and she has changed me and all those around her for the better.

23. I learned what unconditional really means.

24. We gained a whole new ‘family’ in the Williams Syndrome community.

25. With Obi’s arrival I experienced sorrow, but not as deeply as I experienced JOY.

Williams Syndrome Wednesday: Not all news is bad news

by , on
Jul 11, 2013
Williams Syndrome baby no heart issues

A little update on the little miss. Obi met with cardiology today and she doesn’t have any of the heart trouble often associated with Williams Syndrome. This is outstanding, especially when you consider that heart issues are generally a defining factor in the disorder. I, of course, hope that the lack of cardio involvement will translate to a less severe manifestation of the syndrome but I know the two are not related. Still, a little sunny news goes a long way these days.

It’s amazing. When you suddenly find yourself in uncharted territory, the way you see and process the information coming at you completely new too. For instance, if you’d told me when I was still carrying Obi, that I would go to see a cardiologist, one of a whole slew of specialists tracking my soon to be born baby, and I’d been pleased to be there and delighted that she could be followed at our local hospital I would have looked at you like you had two heads. Which part of ‘seeing cardiologist’ is good news I would have wondered. Isn’t the fact that you’re there at all bad news.

Everything has changed.

I met with a dear friend today, one who is also a parent to a child (2 in fact) with special needs. She asked me if I’d read “Welcome to Holland”. In fact she said “Has anyone tried to jam that Welcome to Holland shit down your throat yet?” The fact that she asked me, and more importantly that I knew what she was talking about and was able to ask if she’s read some of the responses made me acutely aware of how the old days are gone forever, replaced by a brave new world. One where news that used to sound bad is far better than real, REALLY bad news. None of which I received today. I’m grateful for that.

If you don’t know the ‘holland’ thing, read here and here and next week we’ll discuss that. Because, I have a lot, and I mean A LOT to say about f’ing Holland.

I’ll leave you with a photo, because if you got here by googling Williams Syndrome and just want to know what the baby looks like so you can see if she looks like your baby, you’re gonna need to have a look at the cuteness. Williams Syndrome Baby no heart issues

Williams Syndrome Pity Party – Table for 1 in 20,000

by , on
Jun 11, 2013

Sometimes you just need to let your heart be broken for a bit, before you can starting putting it back together again.

We’ve heard from genetics as I mentioned in my last post.

My sweet, perfect tiny baby girl was just that. And when I was talking to the doc, just before he gave me the news, I looked over at her and thought, I need to remember this moment, because right now, you’re not a patient or a diagnosis. You don’t have a label. You’re just my perfect little baby. You have challenges and good days and bad days but that’s all they are. I need to remember this because there will be times when all I see is what they tell me you are and I’ll need to remember this sweet little critter, my Obi, my little peachie pie. Little chicken. Little Miss. Missie Miss.

I knew while I was still carrying you that you weren’t typical. I knew when I first saw you there was something different about you. I mentioned it time and again to nurses and doctors. To your dad, friends, family. I did my research. I read and dug. I came up with a theory. And I was poo-poo’d. I was told I was crazy, looking for problems that weren’t there, I needed to give you time, you were small, a preemie, coming around, I was told “it’s gonna feel good when you get the results and I can say I told you so”. The docs told me it didn’t fit, it was unlikely. They told me they’d test but they had other theories.

But I have know you the longest. And who knows you better than me? I wish I could tell you I was wrong Peachie Pie. Or that the thing I had identified was trivial or slight.

But it’s not, sweet love. And the challenges you’ve faced are small compared to what lies ahead.

You have Williams Syndrome.

10-20 times more rare than Down’s Syndrome, you have a complex condition caused by a deletion on chromosome 7 that commonly results in heart, kidney, thyroid and calcium issues. It means spacial difficulties, learning difficulties, an increased chance of ADHD, autism, diabetes and a low IQ. With these challenges also come strengths in verbal abilities, an outgoing, friendly disposition and a likely affinity for music. From my very preliminary understanding, it’s a complex syndrome with limited research and limited funding. It’s a very rare condition. And I’m so sorry you’ll spend your life in an uphill battle.

You’ll wage war against physical, mental and social challenges. You’ll battle perception. You’ll battle labels. You’ll find everyday tasks to be beyond your grasp. You’ll always be different but not by your own choosing.

That makes me very sad. Jaw droppingly, heart achingly, sick to my stomach sad. But know this. You won’t have to fight alone. Once this pity party ends (i just need a little time to grieve the things i had imagined for you and for us that won’t happen the way i had planned) please trust, in the very core of your being, that I will fight with you and for you, with every breath until my last.

You may be a 1 in 20,000 child, but that makes me, by default, a 1 in 20,000 mom, and together we will create the most wonderous life for you, your brother, and our whole family.

I just need a minute. A minute or two more. Just let me sit here a little longer before we start the fight. I need to catch my breath first. And I haven’t had my piece of pity party cake yet.

Genetic Testing – A needle in a hay stack

by , on
Jun 11, 2013

When you set the ball in motion to look to genetics for answers, you learn the answers you seek are like finding a needle in a hay stack.

I posted about our meeting with genetics here.

We knew they had suspicions as I mentioned in the post I linked to, and I started to live as though their suspicions were true.

Still I waited for the follow up with bated breath. I am one of those people who needs to know once and for all.

In her own time

by , on
Jun 11, 2013

When you have a preemie, the one thing you hear a lot is “in her own time.” As in “she’ll start nursing in her own time.”, or “she’ll smile in her own time”, or “she’ll make I contact in her own time”, or “she’ll have alert periods in her own time”…you see where this is going.

Obi wasn’t acting like a ‘typical’ newborn. She was slow to gain weight, could latch to nurse, but couldn’t transfer enough milk to make a meal. You had to wake her up to feed her at term, 2 weeks past term, two months past term. She wasn’t smiling at 4 weeks corrected, 8 weeks corrected, 12 weeks corrected. She didn’t make eye contact. She didn’t follow sounds. She wasn’t doing things in her own time (own time my ASS I wanted to tell everyone who tried to convince me to just wait it out)…she wasn’t progressing at all.

So, like every crazed sleep deprived woman who spends hours on her own watching a sleeping baby willing her to wake up, I turned to Dr. Google. Now, I am not suggesting this is an activity which is good for your health or your sanity. There is some crazy scary shit out there. But I needed to find some sort of explanation, however unlikely. However crazy sounding. However unpleasant for me.

I came up with a short list of conditions that fit with her behaviour and, on March 26 went to doc to discuss the possibility that “In her own time” was not the whole story. I believed there was more to it and at that appointment, the doc agreed. She felt that Obi had some ‘soft markers’ and perhaps digging a little deeper would be a wise course of action. She didn’t necessarily agree with the top idea on my list, but marked it down and suggested casting a wider net. We were referred to genetics and were sent for a few other tests as well.

Finally, I thought, we’ll get some answers. I am the kind of person who believes knowing is better than not knowing. Even when knowing changes everything.

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