A Scotsman who was diagnosed in his 30s with an incurable genetic disorder learned 20 years later that he did not have the fatal disease.
The man, identified by authorities as Mr. C, lived for decades waiting for the hostile personality changes, early dementia and complete loss of muscle control caused by Huntington's disease. His family also lived in fear of passing the mutation on to their children.
After his first diagnosis, Mr. C's wife terminated a pregnancy and his daughter terminated two pregnancies under the false assumption that they were saving future generations from the notoriously devastating disease.
Mr. C, 51, has filed a complaint against the Lothian National Health Service Board in Edinburgh because the local hospital failed to retest him for 18 years after a definitive test for Huntington's disease came out in 1993. The health board did not comment on whether Mr. C would sue.
"I hope there is no one else in the same position," said Jim Martin, the Scottish Public Services ombudsman who oversaw the investigation into the complaint.
"It is an ironic thing. If this man had been in Aberdeen rather than Edinburgh, he would have been tested. There is no national policy," said Martin, adding that getting the best testing on such life-changing diseases should never be left to a "zip code lottery."
A child of a parent with the Huntington's mutation has a 50 percent chance of inheriting the gene that leads to inevitable symptoms, said to Dr. Joel Perlmutter, director of the Huntington's Disease Center of Excellence at Washington University in St. Louis. People with Huntington's disease may live well into middle age, starting families and passing on the gene before symptoms begin to show.
"This disease typically has as an onset in the mid to late 30s. It can start with mood problems, cognitive problems, chorea [involuntary movement], balance problems ...," Perlmutter said.
People usually die within 15 to 20 years of the first symptoms. But, Perlmutter said,some people can get into old age before Huntington's appears.
"Some people develop symptoms in their 50s and their 60s and even in their 70s," Perlmutter said.
Mr. C was tested in his early 30s with the now outdated linkage analysis; a test that searches for the likelihood of a patient having the mutated gene based on genetic markers in his and his family's genes. Mr. C was told there was a high chance -- 96 percent -- that he had inherited the Huntington's mutation from his mother. But when a definitive genetic test came out four years later in 1993, Mr. C said, his geneticist advised against the test.
"In the old days, depending on the family and how informative the family was, one could have a pretty good idea that someone was at high risk or at low risk for Huntington's, Washington University's Perlmuttter said.
"But that's not the same as directly identifying the gene defect itself," he said.
The linkage analysis was inaccurate enough that Perlmutter said many centers didn't bother with the test.
"They [the doctors] should have known," he said. "Once the gene test came out, anybody who was interested in their own status would have the gene test done because that was the only way to confirm [Huntington's]," he said.