Kelly Cooper's Story

Kelly Cooper's Story as told by her father, Richard Cooper
Grand Ledge, Mich.

Kelly was born in 1967 and we knew almost immediately that there was “something wrong” with her. She was born with cataracts and had both lenses removed by the time she was a year old. Over the next few years she had other physical problems - scoliosis, mild retardation and an uneven gait. Some doctors thought she had cerebral palsy; others thought it was a tethered spine. Having been Director of the Developmentally Disabled for Michigan Community Mental Health in several counties, I knew these diagnoses were not correct. The doctors and I had never seen a case quite like Kelly's before.

Eventually Kelly graduated from Grand Ledge High School and moved into her own small apartment where her mom could check on her frequently (we were divorced). One day I called Kelly from my home in Detroit . She said she was blind and didn't know what to do. I immediately called the police in Grand Ledge and told them to take her to the emergency room in St. Lawrence where I would meet them. Spontaneous blindness is sometimes associated with multiple sclerosis. The physician from the ER and I thought that may be her new diagnosis. We called in a specialist from Michigan State University who diagnosed Kelly with a genetic disease called Leukodystrophy. This is a disease I had never heard of despite having been in the medical field for 25 years. After a quick search on the Internet, I discovered that the United Leukodystrophy Foundation was having an annual meeting the following week in Illinois . My wife and I attended the meeting and met a scientist from the National Institutes of Health in Bethesda, Md.  She informed us they had a grant to study individuals with undiagnosed Leukodystrophy. Kelly fit their protocol.

She was admitted to NIH and has been seen each year for the past 12 years. With help from the Gnome Project we learned that she has a form of the disease called CACH (Childhood Ataxia with Central Nervous System Hypomyelination); by her physician, Raphael Schiffmann, M.D. He has informed me the research they have done on Kelly has aided them in their search for a cure or treatment for the disease. Normally death occurs in the first few years of life. He also determined that the reason Kelly has lived as long as she has is that approximately 50 to 60 percent of the defective gene is still working. He is now working with researchers in four countries in an attempt to find a treatment. I asked him about stem cell research and he said it was too early to say if it would be of benefit to Kelly.

Embryonic and adult stem cell research both are holding promise for treatments. As the father of a victim, I support further research into both. Politics can not stand in the way of advances in medical science.