Jeffrey Michael was born in
December, 1984. His growth and skills were normal
for the first few months. As soon as the weather
warmed up and we were outside he began to exhibit a
severe redness. We followed up with our pediatrician
and dermatologists and they told us to keep him
indoors and away from the sun.
They did not make a diagnosis other than
photosensitivity. A few months later Jeffrey did
move around in a baby walker, stood in the crib and
responded in baby games but he was not able to sit
independently, speak beginning words or show
physical growth in his weight or head circumference.
OOur next step was a round of tests in our local
hospital with a pediatric neurologist. This was
followed by a trip to NYC to Dr. Rapin who was known
for her research with children with Cockayne
Syndrome. She recommended we go to the National
Institute of Health. We saw dermatologists who
specialized in skin cancers. Dr. Kraemer evaluated
Jeffrey for two days. Jeffrey was then seventeen
months old and we were told he had xeroderma
pigmentosum and cockayne syndrome. There would be no
cures for our beloved child.
After his diagnosis we enrolled him in two early
intervention programs. One provided his
occupational, physical and educational therapies.
The other school was an early intervention program
for children with hearing impairments. Jeff did have
bilateral hearing loss. He did have hearing aids but
he never really liked them and took them off
frequently. He did learn sign language. He would
sign ball, more, want, book, baby, light, eat. We
continued attending these programs until he was
We then participated in our local preschool program
which he attended for two years. He had his own aide
and continued all of his therapies. We used
sunscreen daily but he only went from house to car
and never played outdoors.
His health was always good though he had colds,
chicken pox, etc. We provided a liquid and soft
pureed diet but he lost about one or two pounds
every year. He had orthopedic surgery for tight
hamstrings but he never walked independently. He
could use a walker for short distances in physical
therapy but he was not reliable. He loved cruising
through the house in his baby bouncer. He would roll
or combat crawl when he was on the floor.
Jeffrey was our heartache and our joy. Though he
never walked or talked we knew his wishes and his
wants. My husband and I knew his time with us would
be short but we also knew that we would do
everything in our power to give him the best life he
could have. He saw lots of physicians on a regular
basis but their treatments were minimal. We felt
their evaluations would help them to learn more
about cockayne syndrome.
When Jeffrey was six he weighed fourteen and a half
pounds. We did discuss feeding tubes but none of his
doctors recommended it.
He caught a cold and he developed pneumonia. His
little body was too fragile to fight it. He was
hospitalized for two weeks in a pediatric intensive
care unit when we lost him in February, 1991. We
donated his brain, optic nerve and auditory nerve to
Dr. Rapin and Dr. Kraemer. Someday his little cells
may provide an answer to all of the new little ones.
Jeffrey was pure love. He loved his family,
neighbors, classmates. His face radiated joy and
everyone who knew him responded to that goodness.
Though he was physically weak and tiny he left a
giant impact on his world.