I wrote this about four years ago as a potential submission to an online magazine which is focused on the disability community and it was not published there. I've never done anything with it otherwise and finally decided to post it here since I do think it is worth reading and someone might actually get something positive from it. I have also added a small addendum at the bottom about one related recent event.
Life With A Rare Genetic Disorder
On a bright, sunshiny day in June 1992, my wife Candice walked down an irregular stone path to the main overlook of New River Gorge National Park on her father’s arm and we were married. At the time, she was in her early twenties, seventeen years younger than me, and so far as we knew she was perfectly healthy. She had been running college track just a couple of years before at the University of Wisconsin-Platteville. She quickly obtained a job as a state social worker in Eastern Kentucky where I had been raised and quickly adapted to life in Appalachia although she had never been in the region before we met.
Four or five years later, she began having difficulty with walking over irregular terrain and the thing I remember most vividly is that sometimes she would simply lock up in the soft dirt of our garden. We began a series of encounters with neurologists and tests for every neurological disease known to the medical world. All the tests results were negative and one doctor even told us Candice’s symptoms were psychosomatic. This cycle eventually brought us to Dr. Joseph Berger, M. D., at the University of Kentucky Hospital in Lexington where he was the department chair and a professor of both neurology and psychiatry. Dr. Berger is one of the most intelligent, professional, and dedicated humans I have ever known. After several visits and a repeat of the tests for ALS, MS, MD, and other diseases, all of which were still negative, Dr. Berger sat down with us one day and said, “I don’t know.” for about a half hour which is still one of the strangest experiences I have ever had. He suggested that we consider going to the National Institutes of Health in Bethesda, Maryland, which Candice agreed to do.
At NIH, we met Dr. Elif Arioglu, M. D., an equally brilliant, caring, and dedicated young Turkish Muslim woman who was on a fellowship at NIH. She became Candice’s regular primary physician during the five years or so we traveled to Bethesda. Candice’s initial health history at NIH was done by the Director of the National Institute of Diabetes and Digestive and Kidney Diseases Dr. Simeon Taylor. When he walked into the room and introduced himself along with his job title, I realized even more than I had when Dr. Berger said “I don’t know” that we were in truly deep water. I knew that if the president had been ill with similar problems Dr. Taylor and his associates would have been on the job.
The Human Genome Project was in full swing during the time we were traveling to NIH and we learned about it and got some hope that when the human genome was fully understood we might have a solution to Candice’s problems. Candice was enrolled in some research protocols, tested in every way known to modern medical science, and provided maintenance medications and some adaptive equipment as her disease continued to progress. We met some of the most brilliant medical practitioners and researchers in the world along with a growing group of the most exotic patients and diseases we could imagine. NIH was a highly educational and sometimes inspiring place to spend four or five days every three to six months. But five years rolled by with no easy answers. Dr. Berger and Dr. Arioglu eventually co-authored two journal articles about Candice’s condition and her father who had a similar body type and other mild symptoms was also brought into the NIH programs for a few years.
But nobody came up with any ready answers and eventually Candice grew tired of the endless poking, prodding, tests, and the endless parade of brilliant medical students who repeatedly asked the same questions for their own education. After five years, she withdrew from NIH but had continued to work for the state of Kentucky the entire time. She found it necessary to transfer from the Department for Social Services as an investigative worker after she progressed from a cane to a walker to a wheelchair. But for ten years, she continued as a food stamp worker, and eventually secretary, at the local food stamp office before she finally retired on disability after having worked in that office for ten years after she had progressed into a manual wheelchair. During this period of slow steps backward, she also began to drive with hand controls and eventually took her state pension and Social Security. We remodeled our house with an accessible bathroom and ramps. We learned to adjust to life with a wheelchair and a ramp van. But answers were not forthcoming other than knowing that she had a rare inherited genetic condition which was linked to both spinocerebellar degeneration and lipodystrophy. Finally, a researcher in the Toronto area who was working on diabetes research, was able to use NIH generated data along with the data from her one visit years before to the Cincinnati Children's Hospital and isolate the particular genetic flaw which caused Candice’s problems. Dr. Berger finally told us a few years into the problems that the flaw had been found in only two other patients in all of North America and that he believed all three had a common ancestor. But there were no further answers.
No one ever believes they, or someone they love, will become a patient with a disease for the medical journals. Those things don’t happen to ordinary people. But it happened to Candice and me. By the time Candice had decided she could no longer work in an office setting, the medical records we mailed to the Social Security Administration were shipped in a medium sized cardboard container with the first piece of paper in the box being a letter from Dr. Berger stating that in his professional opinion Candice was totally disabled. We have no idea if any worker at Social Security ever read that entire box of records and we suspect that the collective weight of Dr. Berger’s letter and the weight of the box settled the disability case whether the records were ever read or not.
Over the past twenty years, Candice and I have adjusted to our lives together as well as any two people could. We have traveled to both Canada and Mexico. We attend concerts regularly and love to find new things to see, do, and experience. But we still wonder how life might have been different if NIH had truly been the magical place we thought it might be the first time we entered those doors. Dr. Arioglu has taught medicine at the University of Michigan for most of the last twenty years. Dr. Berger has retired from the University of Kentucky and works with the same dedication as always as the Chief of the Multiple Sclerosis Division at the University of Pennsylvania. Candice and I still live in the same modified home in Eastern Kentucky and work to accept our lives together without any answers.
Copyright 2019 by Roger D. Hicks
ADDENDUM
This addendum is being written on New Year's Eve 2023 and about two weeks ago our phone rang for the second time over the last twenty years with Dr. Elif Arioglu (Oral), now married about twenty years with two grown sons, seeking the latest news about Candice and her health and also asking if she might be interested in participating in some of Dr. Arioglu (Oral's) ongoing research at the University of Michigan. We have always both respected and appreciated this woman who, despite her intense work schedule as a doctor, medical researcher, educator, and director of two research programs at the university, has never forgotten us and has found time to become more a friend than a doctor we once knew. If you have to be saddled with such a rare medical condition, it is an incredible blessing to also be gifted with knowing such a brilliant and caring doctor.
