top of page
This image shows the founders' daughters Alanna and Ella. there are two images of each of the girls. In Ellas' first image, she is holding her green teddy. In Ella's second picture, she is outside at the beach on one of Rare Irelands Febuary sea runs. The first picture of Alanna is at the very first Rare Ireland conference in 2022. the second picture of Alanna she is standing smiling for the camera.

The Story of Rare Ireland

Rare Ireland was set up in 2017 by two mothers of daughters with rare chromosome disorders, Laura Egan and Louise O’Keeffe. Rare Ireland was initially set up as a Facebook support group for parents of children and young adults living with rare conditions and was successful in obtaining charity status in February 2022.

Laura’s daughter Alanna was born in October 2000. At birth Alanna presented with low muscle tone and failure to thrive, as she grew older she was missing her developmental milestones and was diagnosed as having moderate intellectual disability. Alanna endured years of tests and scans but despite this remained undiagnosed for almost 11 years. In 2011 due to the advances in Genetic Testing, Alanna was diagnosed with a rare chromosome disorder called Koolen de Vries Syndrome. This is caused by a small deletion on chromosome 17, she is believed to be missing approximately 5 genes. KDVS causes developmental delay, intellectual disability, low muscle tone, lax joints, anxiety, autism, epilepsy, kidney and cardiac anomalies and much more. Individuals with KDVS are known for their amiable, social personalities. Alanna is no exception to this, she loves to entertain people and is the “ life and soul of the party”. Alanna was only the second child in Ireland to be diagnosed with KDVS, which is believed to affect 1 in 38,000 people. Upon her diagnosis Alanna’s family looked for online support groups. They joined international groups but were surprised to learn there was no support and information available in Ireland.

Louise’s daughter, Ella was born in July 2013. From the time of her birth She presented with many feeding difficulties. She had several gastrointestinal problems including severe reflux. Despite Ella being in constant pain and discomfort her parents concerns were dismissed by many doctors. As she grew older Ella also missed important developmental milestones. In 2016 at the age of 3, Ella was diagnosed with NF (Neurofibromatosis) Microdeletion Syndrome. This is caused by a deletion on chromosome 17, the genes Ella is missing includes the NF1 gene. NF Microdeletion Syndrome causes tumours to grow anyway where in the body, but particularly along the nervous system. These tumours are usually benign but can be malignant. Cancers that occur in individuals with NF tend to be rare and very difficult to treat cancers. NF Microdeletion Syndrome also causes learning difficulties, intellectual disability, anxiety, ADHD, Autism, low muscle tone and much more. Despite searching online for support, Ella’s family also found it difficult to access support and information for their rare diagnosis. Although there was four years between Alanna and Ella’s diagnosis nothing had improved in Ireland in terms of support for families.

Laura and Louise met online in 2016, soon after Ella was diagnosed. They formed a friendship and supported each other through what was a very difficult time in their lives. Both families had been handed the name of life altering conditions with no support provided to them. families at this time had no option but to reach out to a U.K. organisation to find the support of other families in Ireland. In 2017 Laura and Louise established a network of support allowing Irish families to connect with each other. in 2022 Rare Ireland became a charity allowing for the financial support for families living with rare in Ireland.

Rare Ireland currently has a committee of 12 mothers, all working on a voluntary basis to support our members and raise awareness of the many challenges facing the rare community. We work together to ease the isolation facing our families. As Irelands only charity supporting families living with rare disease, our network has become an invaluable source of support to our members.

bottom of page