Judge says care pathway for Huntington’s disease patients urgently required

High Court Reporters

A High Court judge has said a national care pathway to help those diagnosed with the rare genetic condition Huntington’s disease is urgently required.

Judge Paul Coffey made his comments after hearing in the High Court about what one family described as a “war with the health system”, of a delay in diagnosing a mother with the disease and her father, who died, never even knowing he had Huntington’s and the 26 members of the extended family who are potentially affected.

The family’s case came to light as the mother in her 60s settled for €142,000 a High Court action against the HSE and a doctor at a medical centre in relation to her disease diagnosis.

The woman, who had sued through her daughter or her family, cannot be identified by order of the court. The case was settled after mediation.

A letter of apology from University Hospital, Galway was read to the court in which it said it would like to apologise unreservedly for “the deficiencies in the care” which led to the delay of the woman’s diagnosis of Huntington’s disease.

“We do not underestimate the distress this has caused you and the adverse effect this had on your relationship with your family,” the letter signed by hospital general manager Chris Kane said.

The woman’s daughter told the court that three generations- 26 members of her family are potentially affected by the Huntington’s disease diagnosis .

“My mum lost over six years of her life being told her disease was psychological. My 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 told the judge.

She added what was required was “nothing more than the HSE doing what its own clinicians repeatedly recommended in writing ; tell the family.”

Judge Coffey who praised the woman’s daughter said part of the case related to the failure of the Irish state to have a clear pathway in place for those diagnosed with the disease.

The judge said it was shameful that only one dedicated nurse in the entire country deals with Huntington’s disease. Mr Justice Coffey, referring to a care pathway for Huntington’s disease patients which was first proposed here in 2022, said it has not been implemented by the HSE but is urgently required.

The woman’s daughter told the court 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, but” 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 seventeen cousins were impacted by the genetic risk associated with my grandfather’s diagnosis,” she said.

She added: “This is a case about systemic 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.”