Self Expression Magazine

A Little Girl With Williams Syndrome

Posted on the 23 May 2014 by Wifessionals @wifessionals
A Little Girl With Williams SyndromeFor Shane and me, becoming pregnant couldn’t have come at a worse time.  I lived in California and I had just gotten an incredible job opportunity in Arizona, and Shane was scheduled to spend his last year in the Navy in Virginia.  But as the weeks went on our fear quickly grew to excitement.  We were having a girl!  We couldn’t be happier.  Suddenly, all I wanted to do was be a mother to my perfect baby girl.

I was 20 weeks pregnant the first time someone told me something was wrong.  That my perfect baby girl wasn’t so perfect.  I was having an ultrasound done when the ultrasound tech excused herself to call in the doctor.  One of Anya’s kidneys was dilated and would have to be closely monitored.  I didn’t really know what that meant.  All I could do was cry about the baby inside me that I couldn’t fix.  I’d never felt so helpless in my life.  Especially when the doctor told me there was nothing I could do and that I just needed to have weekly ultrasounds to keep an eye on it.

I was 30 weeks pregnant when they told me her bones were not growing properly.  The ultrasound tech said she may have some form of dwarfism and that I should expect Anya to be born by 34 weeks; 6 weeks premature.  Now I realize that this shouldn’t have scared me.  I’m well aware that the ultrasound techs just take the pictures and are unable to diagnose anything.  But in my pregnant state of mind I was broken.  I felt like during my entire pregnancy I couldn’t catch a break and just hear some good news.

A Little Girl With Williams SyndromeNothing mattered though as I delivered Anya at 39 weeks.  That day was the happiest day of my life.  I know every woman says that, but it really was.  I didn’t have a baby girl with kidney problems.  I didn’t have a baby girl with dwarfism.  I had Anya; my perfect, beautiful baby girl.  Shane wasn’t here until a couple weeks before Anya was born, but I was so relieved that he was able to be there with me and share that moment with me.  The moment you bring your first child into the world is a moment you can never feel again.  I didn’t know that this was the last time I’d feel “good” for a while…

Early the next morning something wasn’t right.  Anya wasn’t breathing properly.  I called in the nurse and she took Anya away.  Away.  And I didn’t know where.  A million emotions ran through my whole body.  I didn’t know how to feel.  My body ached and I was so terrified for my daughter’s life. Shane and I waited in our room for what felt like days.  We waited for the nurse to come back with some news; some answers.  She finally came back and said we could come and see Anya.  She led us to the nursery with all the other babies, but Anya was in another room with a doctor.  She was having an ultrasound done on her heart.  I burst into tears.  I didn’t understand anything. Yesterday they told me her kidney was fine.  That she was fine.  Why were they taking an ultrasound of her heart?  The doctor met with us and told us that Anya had three holes in her heart and a heart murmur.  I didn’t know what any of this meant.  Would Anya be okay?  Would she survive?  Before we could ask any questions the nurse came and put Anya in the transportation crib. She told us to meet her up in the Neonatal Intensive Care Unit (NICU) after we packed our bags.  The hospital needed the room we were in.  I remember this making me angry.  They needed their room?  I needed my baby!  We packed our bags fast and hurried upstairs to the NICU.  When we got there, Anya was already hooked up to wires.  She had an IV, a wire for monitoring her heart, and about a million colored wires all over her head.  The nurse told us that they were checking her brain activity with an EEG.  They told me I could hold her but one of the nurses had to help me hold her because she was so small and had wires everywhere.  I finally got to hold Anya, and that’s all that mattered.  Shane and I cried.  We had our baby girl right here in our arms. Why couldn’t everything just be okay?  Why was this happening to us?

A Little Girl With Williams SyndromeAfter I laid Anya back down, we stayed by her side the whole day. A few hours passed, and we were exhausted. Anya was exhausted and sleeping, still all wired up. We still had no answers aside from the news of her heart. Then a doctor came in and introduced himself to us. He said he was a pediatrician in this area that specialized in Williams Syndrome. Syndrome. My heart dropped. This is such a scary word. Neither Shane nor I had ever heard of this syndrome before. He told us not to be too alarmed because a genetics test would still need to be done. Right then a genetics specialist came in. She was so arrogant. I didn’t like her. Here we were standing as brand new broken parents and she tells us that she diagnosed Anya at two days old. I later found out that Anya was the first baby diagnosed at our hospital with Williams. No wonder she was having a field day. I was so snappy with her. I remember saying, “Anya is fine. She just LOOKS like that. It doesn’t mean anything. That’s just how she LOOKS!” She was able to diagnose Anya due to her facial characteristics. Williams kids all look like they could be cousins. But I knew nothing then. I didn’t want to know anything. I just wanted someone to tell me that my baby girl was okay. But no one did. All we heard our entire stay in the NICU was how things were going to be constantly monitored and closely watched. I regret not paying more attention now, but the rest of the NICU stay is a blur to me.  Once we heard the words “Williams Syndrome” I just held Anya as much as I could and loved her more than I could ever imagine.
A Little Girl With Williams SyndromeAnya was a week old when we brought her home. I was fine at this point. She was HOME. Shane and I had our happy little family and I couldn’t ask for anything more. We still didn’t have her official diagnosis so I had high hopes that the genetics test would come back negative. Anya was a beautiful, happy baby and that’s all that mattered to us.

When Anya was a month old, we got the phone call.  It was Anya’s genetics specialist.  Anya HAD Williams Syndrome.  She made an appointment for us to come in, with the promise to leave her office as experts on the syndrome.

That had to be the longest car ride of my life.  What were we going to learn? Would Anya be okay?  I felt like everything that was happening to us was a movie I was watching.  That it wasn’t really happening to us.  To Anya.  When we got there, we sat in her office for about three hours and listened. Absorbed.  Accepted.  It was so much information to get in so little time.  One thing is for sure though.  It wasn’t that bad.  Everything she was telling us was nothing that I couldn’t handle.  We learned that Anya would always have to have her heart monitored and she may even need surgery one day.  Maybe several surgeries.  We learned that Williams people are the happiest people and that the syndrome is even nicknamed “the happy syndrome”.  We learned that Anya would most likely live with us at home forever and that she would be delayed most of her life.  But that’s the word I tried to focus on.  Life.  She was going to live.  She was going to be fine.

A Little Girl With Williams SyndromeI extended my maternity leave two additional months.  The first months of Anya’s life seemed to be spent in hospitals and doctors’ offices.  Once I realized how often doctors would need to see Anya, I made the decision to quit my job three months after returning to work.  Anya had seizures, 6 specialists, weekly therapies, medical bills, medications and prescriptions, severe reflux, pulmonary stenosis, a dilated kidney, a duplicated ureter (happens in 1% of people; go figure), an extra spinal disk, hypercalcemia, hyperacusis, she aspirates, has monthly medical assessments, developmental delays, extended colic, and a cerebellum tonsil that’s too low.  Anya has so much going on medically that at times I cannot keep my head on straight.  It can be so overwhelming.  In April, I took Anya to a mommy and me group at the public pool, and I had a mother in the group ask me not to bring Anya back because “she would hold the other kids back”.  My heart was broken.  For Anya.  For me.  I couldn’t believe a MOTHER said that.  Anya entered our family with a rocky start and the moment I’d been waiting for since the beginning, the moment when I knew everything would be okay never came.  But then, for the first time, on May 29, 2013, Anya smiled.  SMILED!

I cry as I write the word because that’s what being a special mommy is.  It’s being overwhelmed and stressed out and not knowing how you’re going to do it every single day.  And then something amazing happens like your baby girl smiling for the first time, and all the pain goes away.  Anya was eight months old when she first smiled.  Anya was eight months old when I realized Anya IS perfect.  Anya is her own version of perfect.  She is writing her own book and teaching Shane and I to read the pages .  In Anya’s 15 months, she has taught me miraculous patience, how to love like I never thought I could love, and to accept everyone.

A Little Girl With Williams Syndrome

Anya has taught me more than anyone else could have taught me in a lifetime.  I’m very lucky to be her mommy, and even though my life may seem hard at times, I wouldn’t change a single thing.  I look forward to growing with you, Anya Jade.

Do you have an experience or post about Williams Syndrome? We would love for you to share it below in the comments!

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