Angelman Syndrome

Guest Post Written by Jenn Kubicza

My son Cole is just a few weeks shy of turning 3. He has bright blue eyes and wild blonde hair. He loves to laugh and explore. He wrestles with his older brother, Lincoln, but gives him big hugs too. His favorite food is macaroni and cheese. He completely adores books and stealing my iPhone (especially if he can take pictures of himself with it).

Sounds a lot like your 3-year-old, doesn’t he? He is. He The only difference is…he has Angelman syndrome – a rare neurogenetic disorder. Cole has it because he is missing part of his 15th chromosome which happens in approximately 1 in 15,000 live births. Cole can’t walk yet and may only ever have just a few words.

But think back to what I told you about Cole before. He’s still just like everyone else.

When Cole was born, he had terrible feeding troubles. We ended up in the emergency room in the middle of the night when he was 10 days old. He was diagnosed with severe acid reflux a few days later and was put on medication. This finally helped him start gaining weight back, but he was still having some troubles.

His milestones started to fall behind around 3 months. He was not rolling over or doing any of the other things babies his age would typically do. We started to get concerned. He also couldn’t keep his eyes straight. We saw an eye doctor and at 4 months old, Cole got little blue glasses. We really felt like maybe he would catch up now that he could see better…but it wasn’t working.

At 6 months, he wasn’t even sitting with support. Since Cole was our second, we really just knew something was up. We enrolled Cole in the “Birth to Three” program. Cole started making progress. It was slow, but he was getting help and starting to achieve things. He was eating solid foods (finally!) around 10 months old and sitting around the same time. He started “army crawling” around 1 year, and then crawling on his hands and knees around 13-14 months. He was still behind, but his motor skills were coming along and looking great.

Around 2, Cole started pulling to stand and cruising. We were told by a genetic specialist that likely Cole was just behind and would catch up. He ran some basic tests and everything came back clear. We just sat back and relaxed for a while.

Until Feb. 15, 2012. Cole was having a terrible night sleeping. I was watching him, waiting for him to fall asleep. He looked pretty funny to me -sort of spaced out. I figured he was just trying to fall asleep, which he did a few minutes later. The next morning, he was fussy again. He just couldn’t eat his breakfast, or even drink his milk.

My husband was taking care of the kids while I was working (I work from home) and he started to yell for me. Cole was having a seizure. We called 911, and ended up in the ER. It was there that the neurologist took one look at Cole and asked if we had ever had a microarray, which is a detailed chromosome analysis that looks for partial deletions or mutations of chromosomes. We told him we hadn’t, so he suggested we do one there. He was pretty sure Cole had Angelman syndrome.

Of course, we had never heard of it before. We googled it. With all the negative information we read on it, all we could think of is that our baby is going to be OK. We were not devastated by this news, in fact, we were happy. Happy we had an answer to why Cole was so behind. We were happy our baby’s life wasn’t in danger.

We do not put limitations on Cole. We believe Cole can do anything we give him the opportunity to do, and he has. He has learned ways to communicate with us without having the ability to use words like his “typical” peers. He will take my hand and move it to what he needs help with (for example, he put my hand near my friend’s dinner plate because he wanted more of her noodles. Thanks for sharing with Cole, Julia!).

He is beginning to use an iPad to communicate as well. His gross motor skills are improving every day. If he wants something, he will find a way to get it. He can climb onto chairs, and off them safely too. He can self-feed finger foods, and is working very hard on using a fork and spoon. He can match pictures in a matching game. A lot of these things are things Cole was not expected to achieve, or at least not so quickly. He is achieving all this and more because we let him try.

For me, being the parent of a child who has special needs is no different from being a parent to any child. Every child has unique needs and experiences. I may have to take Cole to therapies and doctors appointments on a regular basis, but it’s nothing I wouldn’t do for my other son either.

I feel like each child you have – whether they have special needs or not – shapes you as a person and a parent. Having a son with Angelman Syndrome has changed me as a mother, for the better. I don’t feel like I have missed out on anything with Cole, but actually feel like I have gained experience as a parent in skills that are valuable to all of my children.

One of my favorite sayings is one that I stumbled across on Facebook. I don’t know the author, but whoever it is I would like to give them a high-five. The saying goes something like this:

“What screws us up most in life is the picture in our head of how it’s supposed to be.”

This put everything into perspective for me. Don’t limit the future by restricting it to what you *think* is supposed to happen. Be open to what life throws at you. Encourage your children to strive to be their best. Give them opportunities to explore their world and choose their own path. How will I know what Cole is capable of if I don’t give him the chance to show me?

Credit: BNK Photography

Jennifer Kubicza resides in Cheshire with her two boys. Her oldest, Lincoln, is four years old and her youngest, Cole, will be three on January 5th and has Angelman Syndrome. She works full-time from home for a large company and has a small cupcake “business” on the side – just for fun. She cloth diapers Cole and plans to for as long as she can. She currently submits two blog posts a month for the cloth diaper company FuzziBunz where she writes about what it’s like cloth diapering a child who will require extended diapering, along with other parenting-related topics.

7 thoughts on “Angelman Syndrome

  1. Thank you for sharing in such a genuine way! You have great insight and are so right on in what you say. Their are many frightened parents who can gain much thru your wisdom!

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