Laura Egan
Co-Founder, Rare Ireland
Every day is a challenge when a family member is diagnosed with a rare disease. It impacts the whole family, not just the person affected by the condition.
Sarah is 10 years old. At the age of 3, she was diagnosed with neurofibromatosis type 1 (NF1). This is a rare neurological condition, which causes tumours to grow along the nervous system. NF1 tumours typically grow on the brain, spinal cord and nerves.
How a rare condition impacts families
Sarah required frequent hospital appointments, which led to her mother leaving full-time employment to provide the care she needed. When Sarah was 6 years old, she was diagnosed with a tumour on her optic nerve. This was a difficult time for her and her family as she needed chemotherapy to shrink the tumour.
Treatment was difficult on her young body; she was sick regularly and required 24-hour care. Thankfully, treatment was successful, and her tumour is now stable. However, she suffered a significant loss of sight due to the tumour.
Living with NF1 impacts the family as a whole. Sarah’s home has been adapted to suit her needs, which has put a financial burden on her family. Sarah’s siblings made big sacrifices as a rare family. Her young sisters, on many occasions, had to adjust to their mother’s absence as she stayed in hospital with Sarah.
As an extremely rare condition, how it
will impact her in later life is unpredictable.
Restrictions and uncertainty
Coping with their sister’s condition has also been challenging, with them needing family counselling. Family outings and holidays are restricted as it can be difficult to find activities and accommodations with adequate accessibility.
Sarah’s future is uncertain. She will be more prone to tumour growth as she grows and enters puberty, as these tumours are sensitive to hormones. NF1 is a progressive condition requiring frequent monitoring throughout life. As an extremely rare condition, how it will impact her in later life is unpredictable. Due to her cognitive delays, sight loss and chances of developing hard-to-treat, debilitating tumours, Sarah will likely need continuous support for life.
Support and education for rare families
Sarah and her family have received little support. Even with one wage, they often have to pay for private appointments to care for their family’s needs. They are also members of Rare Ireland, a charity run by rare disease parents to provide financial and emotional support to rare families in Ireland.
Through Rare Ireland, they have met other NF1 families, reducing the isolation they experienced throughout their journey. Such communities emphasise the importance of understanding conditions like NF1. Families, like Sarah’s, need more information and support to guide them.
Rare Ireland is a registered charity supporting families living with rare disease.