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 three.

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.


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