The family of a woman who had a delayed diagnosis of a rare genetic disease has told the High Court about what was described as its “war with the health system” just to be heard.
University Hospital Galway has apologised for deficiencies in the care which led to the delayed diagnosis of Huntington’s disease in the woman who is now in her 60s.
Her father died without ever knowing he had the same condition and 26 other family members are potentially affected.
The woman took an action against the Health Service Executive and a doctor.
The case was settled for €142,000 after mediation.
Mr Justice Paul Coffey said that a national care pathway for those with Huntington’s is urgently needed and said it was “shameful” that only one dedicated nurse in the entire country deals with the disease.
The woman’s daughter told the court that three generations of her family are potentially affected by the diagnosis.
She said her mother lost over six years of her life being told her disease was psychological, and her grandfather lost his life never knowing what took it from him.
“Our family lost years we can never get back and paid financially and emotionally for a legal process to establish facts that the HSE’s own records had already documented.
“We did this to ensure that no other family will have to suffer what we have suffered,” she said.
She added what was required was “nothing more than the HSE doing what its own clinicians repeatedly recommended in writing: tell the family.”
She said the case did not happen because any single person failed her mother and grandfather but because the system had no pathway capable of connecting a positive genetic result to the family who needed to know it, no shared record system capable of joining two patients files across a single hospital and no plan for what should happen to a patient and their family after diagnosis.
She said it was not a story of an unfortunate diagnosis, rather “a story of a diagnosis the health service already had the means to make years earlier and chose because of a total absence of a care pathway not to communicate”.
“Two symptomatic people were impacted by those failures, my grandfather who died not knowing his diagnosis and my mother who spent several years being told her disease was in her head. 25 more family members including my mum’s younger siblings, me and my siblings and 17 cousins were impacted by the genetic risk associated with my grandfather’s diagnosis,” she said.
“This is a case about failure; the HSE and Government’s failure to recognise the needs of Huntington’s disease patients, its failure to act on the concerns of its own clinicians about the absence of any care pathway in this country and its failure to maintain a records system capable of connecting a father’s diagnosis to his daughter’s identical symptoms even though both were patients of the same hospital department and GP practice.”