Stories from the Irish rare disease community

Áine Lawlor – 22q11.2 Deletion Syndrome

Brendan Gallagher – Alpha-1 Antitrypsin Deficiency

Chloe Hayes – Juvenile Huntington’s Disease

Dara Woods – Hereditary Haemorrhagic Telangiectasia (HHT)

David Comer – Central Nervous System (CNS) B-Cell Lymphoma

Dylan Finglas – Multiple Sulfatase Deficiency (MSD)

Emma Fogarty – Epidermolysis Bullosa (EB)

Grace O’Malley – Spinal Muscular Atrophy (SMA)

James Ennis – Cystinosis

Joyce Stokes – Multiple System Atrophy

Katie Moore – Cystic Fibrosis

Killian Fitzgerald- Phenylketonuria (PKU)

Sandra Phair- Cavernoma

Saoirse & Liam Heffernan – Batten Disease

Sean O’Kelly – Spina Bifida

Sharon Treacy – Stargardt Disease