James Lowell Kamerath - Anomaly Solved: Cousins Share Similar Symptoms

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1983 - James Lowell Kamerath

4th Generation
Descendant of Andy Wright Earl

Birth: 1955
OTC deficiency confirmed 1983 age 29
Living with OTC

Anomaly Solved: Cousins Share Similar Symptoms

Late 1960’s - JL began to have intermittent bouts of sickness that exhibited symptoms later associated with OTC.

In 1970, at the age of 15, he was hospitalized and misdiagnosed as having hepatitis, due to similarities of symptoms and Gilbert’s Syndrome (causing yellowing of the whites of the eyes).

1978 JL endured frequent bouts of sickness that occurred at least once a month.

In 1984, after multiple episodes of sickness, high ammonia levels, hospitalization, and comas that appeared to be terminal, JL’s doctors referred him to the Mayo Clinic for what turned out to be a diagnosis of OTC deficiency. He did not match the current criteria for OTC deficiency and was viewed as an anomaly. Then doctors were only aware of OTC deficiency occurring in infants and children who usually died as a result.

A liver biopsy medically confirmed his OTC deficiency and established that his gene was functioning at 18% capacity. His treatment protocol was limited to rudimentary and underdeveloped procedures. Some of the medicines used were similar to those that were used to treat urea disorder cycles. At the time JL was diagnosed, he was not aware of any other family members who had the symptoms of the metabolic illness or OTC deficiency.

1984 - JL’s mother (Alice Fay Earl Kamerath) shared with her cousin (Opal) the details of his illness. The cousin related to

JL’s mother that her grandsons, Don and Lynn Thorsen, had the same symptoms.

1992 - JL’s wife, Carrie, connected with Dr. Claire Leonard, a geneticist at the University of Utah Hospital, during a local TV show featuring the doctor speaking about an OTC patient waiting for a liver transplant. Carrie called the station and explained to Dr. Leonard that JL had a confirmed OTC deficiency. This resulted in an appointment with the doctor.

Dr. Leonard then referred JL and his cousin, Kenneth Dansie, to John Hopkins Hospital for research, testing of drugs, and treatments specifically designed to treat the symptoms of adult OTC deficiency. The chemical being tested as a treatment for OTC by Dr. Saul Brusilow of Johns Hopkins was sodium phenyl butyrate (later to be named Buphenyl). His study was funded by the National Institute of Health (NIH), a U.S. Department of Health and Human Services organization through the Orphan Drug Act.

Research and development of a treatable gene therapy solution has continued throughout the past two decades with limited results. Finally, because of the connections made by relatives talking and comparing stories about this illness, we have been able to find a cause and a treatment that is effective. It now becomes the responsibility of everyone that is aware of OTC to share the information and bring that knowledge to more relatives that may be affected.

JL had an older brother, Roger, who died of polio just prior to his eleventh birthday in 1952. Roger also had a history of illness and it may have been the stress of the polio that took him so quickly. We do no know for sure if he suffered from the same genetic defect, but it is a distinct possibility. We should like to honor his memory and be able to share the information that we now know with others that could benefit by knowing the symptoms and resolving the problems associated with this silent killer.