Laura Egan
Co-founder, Rare Ireland
When we received a diagnosis for our daughter after 11 years, we thought it was the end of our difficult journey; but in reality, it was the start of another.
Our journey facing a rare disease
In October 2000, our first child was born. What should have been the most exciting time was filled with fear, worry and isolation. After a non-complicated pregnancy, our little girl was born underweight and unable to feed. From there, it was one complication after another.
Early years living with a rare disease
Alanna failed to thrive from the day she was born. She had hip dysplasia and low muscle tone and failed to reach any of her developmental milestones. We had regular appointments with numerous specialists, but no one could provide us with answers.
The isolation and need for support prompted us to set up our support group.
Being diagnosed with a rare disease in Ireland
After 11 years with no answers and countless tests and advances in genetic testing in Ireland, Alanna was finally diagnosed with Koolen de Vries Syndrome (KDVS). This is caused by the loss of genetic material from chromosome 17. She was the second person in Ireland to receive a KDVS diagnosis. We were baffled by how underrepresented and under-supported the rare disease community was.
Seeking rare disease support for Irish families
Upon receiving her diagnosis, I was shocked to hear the doctor say: “I have no information on this condition.” I spent the next months gathering information and looking for online support groups, to discover that Ireland had no support group for families affected by rare conditions. Our closest support network was other KDVS families in England.
In 2016, I became acquainted with another mother, Louise O’Keeffe, whose journey was similar to ours. We were both desperately seeking support in a country that didn’t provide any. The isolation and need for support prompted us to set up our support group.
In March 2017, we started Rare Ireland Family Support Network to provide a space that offers practical support to rare families. Our group grew steadily and now represents over 1,600 families, providing the support and information we previously lacked. The early years were very difficult, but because of the rare community now established in Ireland, fewer families will face the same challenges.