Man Misdiagnosed With Fatal Disease for 20 Years

Jan. 25, 2010— -- 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.