Irish Families Share Heart-Wrenching Stories of Rare Diseases

URGENT UPDATE: Families across Ireland are stepping into the spotlight, sharing their powerful stories about living with rare diseases. This past week, Rare Ireland launched a groundbreaking campaign featuring 17 “changemakers,” including well-known figures like rugby star James Lowe, who lives with Juvenile Idiopathic Arthritis.

The initiative, unveiled on November 14, 2023, aims to raise awareness and support for the estimated 1 in 17 individuals in Ireland affected by rare conditions. “You have to change your life,” says Ross McCarthy, whose son Cian has been diagnosed with the ultra-rare NARS1 Disorder, identified just two years ago. Cian is the first person in Ireland to receive this diagnosis, which affects his ability to walk and learn.

Ross and his wife Caitriona are advocating for awareness, hoping to connect with other families facing similar challenges. “When we found out about Cian, our dreams for him changed drastically,” Ross shared. “We had to adjust our expectations, but it forced us to focus on what truly matters.”

The McCarthy family’s journey exemplifies the emotional and practical challenges families endure. Cian’s diagnosis came after months of assessments, revealing a genetic mutation that has profound implications on his development. “It’s a lonely road,” Ross noted. “But we want others to know they are not alone.”

Another poignant story comes from Anne, whose daughter Ciara suffers from severe Ehlers-Danlos Syndrome. Anne herself has a milder form of the condition. Their experiences highlight the spectrum of symptoms associated with rare diseases, emphasizing the need for better support systems in Ireland. “We want a center of excellence for rare diseases,” Anne stated, underscoring the shared struggles among families affected by these conditions.

Despite the hardships, both families express gratitude for the community support facilitated by Rare Ireland. “This has not taken anything from our lives; it has enriched them,” Ross concluded, referring to his son’s condition.

In a remarkable moment last year, Cian took his first steps at an All-Ireland final, a milestone that brought tears of joy not just to his family but also to the many supporters cheering him on.

As the campaign continues, Rare Ireland will host its annual conference, aiming to gather insights and foster connections among families and healthcare professionals. The event will take place in Athlone, with free tickets available for those interested in learning more about rare diseases.

Stay tuned for more updates as these families continue to inspire and advocate for change in the landscape of rare disease care in Ireland. Their stories are not just personal; they are a call to action for better awareness, support, and understanding of the unique challenges they face.