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.
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
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
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
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