Amy and Friends - Cockayne Syndrome Support Amy and Friends - Cockayne Syndrome Support
























Bertie Butterfly is kindly sponsored by Holly Lodge School for Girls, Liverpool.

 

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  Juliann Tompkins
Age: 2yrs
Height: 2’7”
Weight: 23lbs

My nickname is tuttie. I was born 6 weeks early and never moved in my mommy’s belly. From the start my parents knew that I was special. At birth I couldn’t maintain my body temperature and finally at 5 days I was able to go home. At my four month check-up my doctor noticed that my soft spot was closing. He sent me to another doctor, which he said I had Crainosynostosis, which is where the bone plates in your skull fuse together too soon.
I had cranial reconstructive surgery on my skull to open the soft spot back up. After surgery my parents noticed that I wasn’t developing like a child my age, but they thought that it might be because of the surgery. Then my mom noticed that my skull was returning to its shape like before the surgery.
My parents took me to another doctor and he said I had to have surgery again. This time they put me together like a Lego, they put 4 dissolvable plates and over 150 dissolvable screws to keep my head from returning to its prior shape. After my second surgery I was now 2 years old and my parents still didn’t think that I was developing like a child my age. They took me to see a doctor that might know what was going on with me He look at some previous scans of my head, the way my facial features were and told my parents that he was going to test me for three syndromes. The first one was Cockayne Syndrome and there were two other ones. The test was suppose to take 8 weeks, but at 11 weeks my parents got the call, that through a blood test, it was confirmed that I had Cockayne Syndrome Type 1. I was diagnosed June 30th 2011 and it has put an end to my parents search.

I love to crawl around since I am not able to walk yet, but hopefully soon. Baths are my favorite, but anytime I see or hear water I have to check it out and want to get in. My favorite person is my big brother Dustin, he is 6. I play with any toy of his, even if he says I can’t. I love anything electronic and I am fascinated by lights and especially ceiling fans. I love the outdoors, even if the sun bothers me. I get really excited when I see animals, even though I might not be gentle with them. When I see someone I really like, I give the biggest hugs and kisses anyone would want. I can feed myself, but I am kind of messy. When it comes to drinks, I just want what my brother has. I don’t wear glasses, but in near future I will be getting surgery on my right eye because the doctor calls it lazy. My hearing as of now is great and I take naps during the day and sleep 8-10 hours a night.

I am the one and only cutie patootie!!

   
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