
Our Founding Story
Rare Ireland was established in 2017 by Laura Egan and Louise O’Keeffe, both of whom have daughters diagnosed with rare conditions. 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 Facebook support group for parents of children and young adults living with rare conditions, which has grown exponentially. Rare Ireland was successful in obtaining national charity status on Rare Diseased Day in February 2022.

Laura's Story
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 (KDVS).
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 surprised to learn there was no support and information available in Ireland.


Louise's Story
Louise’s daughter Ella was born with some birth related issues that made her a very unsettled baby. She had a lot of illnesses and she struggled to meet her milestones. She was developmentally delayed in every area. Ella was diagnosed with Autism before her second birthday. As a Mother Louise had a gut feeling that there was more going on. Ella had some unusual features that led her to seek genetic testing. At 3 years of age Ella was diagnosed with Neurofibromatosis Microdeletion Syndrome. This was caused by a deletion of material on Chromosome 17. NF microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterised by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas
Neurofibromatosis is a condition that causes tumours to grow in the nervous system including the brain, spinal cord and nerves. These tumours are mostly benign but people with the Microdeletion have a higher chance of malignancy. There is no cure.
Like many families prior to a rare disease diagnosis, Louise had never heard of this syndrome before. There were no booklets or information leaflets available at the time and she felt very alone and isolated, desperately trying to find as much information as she could about this very rare syndrome. She spent her nights and every spare minute on google trying to learn as much as she possibly could. She was also searching for another family in Ireland going through the same which took her a long time.
Ella is now 10. She has a long list of diagnosis’ which impact of her life in every single way. She has high care needs and needs one on one at all times. She is full of devilment and mischief and loves to laugh at silly things. It has been a very difficult road for us and the future is uncertain but we try and stay as positive as we can. She has brought so much joy to my life and I feel very blessed to be her Mother
Through all of this she found Laura, and they both had the same passion for wanting to help other parents who were going through the same journey. They both had been advised on diagnosis to contact a UK charity for support. This led them to identify the need for an Irish support group for parents, who were leaving appointments with a rare diagnosis without any support and left to their own devices. They decided to change this and Rare Ireland was born. Both Laura and Louise are extremely proud of the community they have created and the support they provide to all the rare families