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 Genetic Mutation Certain to Cause Problems
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.
Huntington's Not Usually Visable Until Middle Age
"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 C was tested in his early 30s with the now outdated linkage analysis; a test that searches for the likelihood of a patient having the mutated gene based on genetic markers in his and his family's genes.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.
When People Could Learn Their Fate With Huntington's
"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.
Mr. C's doctors became suspicious that they had the wrong diagnosis when he showed nearly no significant signs of the disorder in later life, according to the full report and decision from Martin, the public services ombudsman.
"We are deeply sorry for the anxiety and distress caused to Mr. C and his family and we would like to publicly apologize to them," Melanie Hornett, nurse director of Lothian National Health Service, said in a statement. "This was an exceptional case and we have accepted and implemented the recommendations of the report to to prevent a repeat of a similar incident."
Experts Say There's No Consensus on Retesting Genetic Disorders
The incident may be a rare one but, Martin said, it has spurred the National Health System that serves Edinburgh to have a solid policy on genetic testing.
"It shouldn't be down to the individual to know that science has moved on, it should be down to the health care provider to let them know," Martin said. "Their clinical choice was impacting his life."
Indeed, Mr. C's false diagnosis also limited his financial decisions. Mr. C couldn't get life insurance because of his diagnosis and therefore couldn't get a decent mortgage, Martin said.
Insurance Discrimination and Genetic Information
Until 2008, with the passage of the Genetic Information Nondiscrimination Act (GINA), people diagnosed with Huntington's in the United States would face even more challenges than Mr. C. Before GINA, people in the United States with Huntington's disease found it nearly impossible to buy their own health insurance. They also had no protection from being fired because of their genetic mutation, said Joan Scott, director of the Genetics and Public Policy Center at Johns Hopkins University in Baltimore.
"Those concerns are why people with Huntington's disease have wanted to remain anonymous," said Fred Taubman of the Huntington's Disease Society of America.
And for privacy reasons, as well as psychological ones, Taubman said, very few people who know Huntington's runs in the family decide to get genetic testing.
Taubman said the National Institutes of Health estimates that 10,000 Americans have symptomatic Huntington's disease and another 250,000 are at risk for having the gene.
"Our best estimate is that probably less than 7 percent of people who know they're at risk actually go for the testing," he said. "Very low percentage."
Johns Hopkins' Scott, who is also a certified genetic counselor, said doctors take the emotional impact of testing for such devastating mutations quite seriously.
But "there's no consensus really in the U.S. in how to deal with potentially re-contacting individuals if a new and better test becomes available."