Discussions are to take place at government level today over access to a life changing drug to treat a rare condition known as the ‘Donegal disease.’
Amyloidosis is caused by deposits of abnormal protein – amyloid – in tissues and organs throughout the body.
One variant of ATTR amyloidosis, known as ATTR T60A (or Thr60AIa), was first identified in an Irish family in 1986. A cluster of cases have since been identified in County Donegal, where up to 1 per cent of the population are estimated to possess the mutation.
Affected patients have a 50 percent chance of passing the genetic susceptibility on to their children, though carrying the mutation does not necessarily mean a person will develop the condition.
Until recently, many people with ATTR amyloidosis were misdiagnosed as having heart disease due to other, more common, symptoms such as high blood pressure.
A 1995 study of the Donegal cases found that nearly all those affected were descended from a person with a common ancestral surname.
The North’s former Deputy First Minister, Martin McGuinness, died from the condition in May 2017. Mr McGuinness’ late mother was from Donegal and he spent much of his time in Buncrana.
At yesterday’s meeting of the Inishowen Municipal District, Sinn Fein Councillor, Albert Doherty, said a strain of Amyloidosis was known more commonly as the ‘Donegal disease’.
However, he added, people in the Republic of Ireland do not have access to the life changing Patisiran drug.
Patisiran is being used in the UK and the North as a gene silencer and for lowering the levels of the toxic protein that attacks the organs.
“Known as the ‘Donegal disease’, Amyloidosis has its roots in Donegal and descendants of the Callaghan families are particularly affected, as was our own Martin McGuinness,” Cllr Doherty said.
“However, we need to make Patisiran available in the Republic for these families as soon as possible.”
His party colleague, Cllr Terry Crossan, supported the call, but said help was needed from central government on the issue.
Fianna Fail representative, Paul Canning, also supported Cllr Doherty, adding: “Deputy Charlie McConalogue will be meeting with drug companies tomorrow (Wednesday) and this issue will be raised.”Tags: