Williams Syndrome Wednesday: Some things about having a baby with a rare genentic syndrome…

by , on
Jan 22, 2014

…that you maybe haven’t given much thought about. This past week we had the 1 year anniversary of Obi’s homecoming after 25 days in the NICU.

DSC_0185

We had no idea the journey that lay ahead. Realizing that Obi was not coming along like a typical baby, identifying possible causes and bringing them to her doc’s attention, wading through genetic testing, learning her diagnosis and diving into the steep learning that comes with a complex syndrome like Williams – what a year! I was inspired by this post today on Cheering on Charlie to share some of the thoughts and experiences that have stood out for me so far.

1. It is unbelievably isolating. Charlie’s mom mentioned the same about her micro-preemie experience. In my case, not only are the other cases few and far between, but because it’s a spectrum syndrome, no two cases manifest in exactly the same way. While there are many people who want to help and want to listen, at the end of the day, it’s a journey one undertakes alone. No one else can really know what it’s like. Even my DH and I are experiencing it differently.

2. There is a vague understanding about what her life will be like, but there is no one road map that you can look at and say, I understand how this will go. While this is true for all kids, there is a widely accepted norm for typical kids that is simply absent. Of course no one knows what the future will bring, but I really, really don’t know. It makes living in the moment incredibly important and horribly difficult.

3. There is worry and fear unlike anything I experienced with my typical baby. There is worry about every meal, every sound, every movement. As each and every baby we know flies past her in development, those that are the same age, those that are 6 months younger, the impact of her condition becomes more tangible. What will this mean as the months turn into years? There is fear of tomorrow, next week, the week after that and every week from today until the end of my time, and then there’s the worry for the time after that. It is ever present and unrelenting.

4. Knowing she will always be ‘different’ is a hard pill to swallow. As someone who has always been a little odd, one would think I would have an easier time embracing this. And yes, I have hoped for my kids to be the ones who march to the beat of their own drums. But knowing she will have no choice in the matter, that children may point, that adults may stare or worse, that people will avert their eyes and look past her, and that she will have no ability to fade into the masses if that is her only wish, makes me sad. I have read that lots of individuals with Williams Syndrome are wonderful, bright and loving and people are drawn to them but not being able to picture just what her version of Williams Syndrome will be at 8 and 16 and 23 and 40 – I fear that she will feel her difference and experience isolation and loneliness because of it. I hope I am so very wrong about that.

5. There are moments of mind blowing clarity when I look at my little critter who seemed to defy the odds at every turn. She fought her way into existence. and continues to fight to conquer even the tiniest milestones, ones so small you don’t even notice when a typical baby just sails though them. She proves every day that while, she may be a mystery, she is no mistake. She, just in being, makes me want to be better. If I could have half the fight and determination she’s already shown? Well, I should be so lucky.

Update: We Did Good (Random Act of Kindness)

by , on
Jan 12, 2014

So a week ago today I posted here about a Random Act Of Kindness. I urged readers here and on Facebook to join me in voting for a photo in the Virginia State Parks First Hikes contest so the family could win a 1-week stay in the park of their choice.

I found a blog post on the Love that Max Link-UP from the blog Cheering On Charlie about the photo contest she’d entered. When I read this “At first, I wasn’t sure I wanted to enter the contest. Quite honestly, I have become afraid to hope for things.” I thought, I know exactly what she means.

There were also a whole bunch of nice words in the post about all the people she knew that had come out of the woodwork to vote – most of whom she hadn’t spoken to in ages… again – know how that feels.

She was really excited about all the votes she’d already received and was very much hoping that she could win first place. In that one post, I felt like I’d found a ‘kindred spirit’. I jumped around her blog and read more about her daughter, a micropreemie who has overcome some great obstacles to grow and thrive. I read about her challenges with being a special needs parents and I read about her hopes for Charlie. And then I decided that I could help her and her family win that prize. And, if I shared her story, you guys would help too.

Well, talk about a landslide of kindness. The photo, “Woodland Creature”, racked up vote after vote.

With my post here and the posts of others, Charlie’s mom caught on to our helping the cause and wrote about it here… which caused even more people to jump in to help.

Still, the nearest competitor was really on the ball. WC would go up, the other guy would go up. WC would get 10, 20, 100 votes and the competition would do the same. It was seriously stressing me out!

Then suddenly, I got a message from a friend who was helping me rally the troops that mentioned this blog post comment:

“Hi “Woodland Creature’s” mom. My name is Sarah, and I am the other high voting opponent in the VA State Parks first day hike contest (“Best friends that hike together…”). My husband (in the photo) and I decided to lay off the voting spree and concede before this contest has ended. It should all be in good fun anyway, and we had a lot of fun rallying our FB friends and co-workers to vote for us. You were such a tough opponent, matching us vote for vote or out voting us, that I had to do some Googling to see what who I was up against! After reading your blog about Charlie, my husband and I have decided that your family deserves a cabin stay more than we do. Parenting in so hard, and you’ve had a bit more on your plate than your average parent has. You were such a touch opponent, and Charlie deserves the win! I am a new mother myself, and I just couldn’t continue on for the win after reading your blog. Warm hugs to you and Charlie from Elsa (my daughter) and I. If you ever want to say hello, you can reach us over at oakwoodhouse.wordpress.com. Have a great cabin stay!”

This came from Sarah who conceded the contest so that Charlie and her family could take the prize!

I wrote to Virginia State Parks to let them know how classy the 2nd place finishers were and after reading the final results post, it seems I wasn’t the only one.

They were awarded a special 2nd place prize of a 3 night stay.

I want to thank you very much for taking the time to vote for this family and I hope you had the same case of the feel-goods that I had during the voting process. Charlie’s mom is thrilled that they’ll be enjoying a getaway this year and is oh-so-very-grateful for the role we all played in their journey to the top.

My biggest take away is that I will always be able to find a way to shake the blues by reaching out and doing something kind for others – even if I don’t really know who they are. Even if they live 1000 miles away.

We did good.

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 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.

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.

Follow me on Instagram

Don't miss a thing. Follow now!