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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  Knox was born July 14, 2010 at full term with no complications.

He weighed 6 lbs. 13 oz and had chubby cheeks, and we were sent home from the hospital with a clean bill of health.

It was discovered that he had cataracts in both eyes shortly after birth. He had his lenses removed and started wearing glasses/contacts.
A few weeks later his vitreous gel went "cloudy" in both eyes requiring 2 more surgeries. Soon after, his right eye clouded up with scar tissue, requriing yet another surgery at 5 months old.
In the meantime he had started dropping off the charts, especially his head circumference, so we were sent to a geneticist.
Shortly before he turned 6 months he had a burst of development. He rolled over both ways and smiled! We were so excited. But that's where it stopped. He has not met any other "milestones" since that time.

Testing began. Lots of tests. Everything came back negative. No answers.

I started looking on the internet myself and in about 10 minutes discovered he had many of the signs of CS. I especially took note of the photosensitivity symptom because the one time I had Knox out in the sun for a while (in the shade, but on a light colored blanket that reflected the light) the skin peeled off in large layers from his cheeks and nose. I took photos of it because it was so strange.

At 8 months (April 2011) , Knox's food intake took a dive. He wound up in the hospital for 11 days because he was close to de-hydration. He had an NG tube put in at that time. He also had a hearing test and has mild hearing loss in both ears. His MRI was normal. I sent Knox's picture to Dr.Neilan and he wanted to enter Knox into his research study so we sent blood samples to Boston while we were in the hospital as well.

Just last week, we got the results back. Knox has 2 clear markers for CS on the CSB gene. With the heaviest of hearts, our suspicions were confirmed.

Today, we are home and still feeding him with the NG tube. He stays around 13 lbs. He will still drink about an ounce on his own and then we feed him the rest through the tube. He will also still take solids like cereal and fruit mixed up once or twice a day. He takes Prevocid for reflux twice a day and .

He still doesn't sleep well and is often difficult to keep happy. His favorite thing is when someone puts their face very close to him and talks to him.

He also loves toys that light up and listening to his sister practice the piano.

Knox Clay, Our little friend won his fight against Cockayne Syndrome and is now free to run and play in heaven.

   
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