Rare Diseases: Shining a light on Hereditary ATTR Amyloidosis (HATTR)

In this short article I want to shine a light on one rare disease namely Hereditary ATTR Amyloidosis and raise awareness on the importance to patients and their families of prompt diagnosis access to treatment and genetic testing and counselling for family members.

In 1993 my late mother was diagnosed with that was then known as Familial Amyloid Polyneuropathy (FAP). Today Familial Amyloid Polyneuropathy now known as Hereditary ATTR Amyloidosis (HATTR) has a significant presence within my immediate family circle. I am also a member of the All-Ireland ATTR Amyloidosis support group and I link with Rare Diseases Ireland for this group. In May 2020 a small group all of whom were patients or family members of individuals with hereditary amyloidosis led by Rosaline Callaghan came together to raise awareness and support patients with the condition and their families and carers. The group lobbied successfully with others to have the drug Patisiran licensed for patients in Ireland. There was a glaring inequality in that patients in the North of Ireland had access to this medication whilst their colleagues in the south did not. Thankfully, this is no longer the case, Patisiran is now available within a managed accessed programme to all patients within the HSE considered suitable for this treatment by their consultant. In May 2022 in conjunction with the Irish Heart Foundation the group hosted a one-day conference in Gweeedore Co Donegal The conference theme Emerging from the Shadows presented a hopeful and positive future for patients and their families and the conference speakers endorsed this positive message. The location of the conference gave recognition to the original families and their antecedents. (See below) The group continues to support patients and their families with Hereditary Amyloidosis.