Family’s battle to secure treatment for daughter’s rare condition

April 7, 2014

By Christine Keighery

A Belleek family have kick-started a fundraising campaign to enable their 23 year old daughter to travel to England to receive the specialist treatment she so desperately needs in her fight against a debilitating and extremely rare condition known as Ehlers Danlos Syndrome (EDS).

EDS is a rare, lifelong progressive disease, thought to affect just a few hundred people in this country.  The disorder debilitates the physical strength of skin, joints and muscles and, depending on the individual, it can vary from mild to life-threatening.  There is currently no cure but supportive treatment and close monitoring of the condition can help with the frequent injuries and pain that develop.

Séanín Smith’s whole world was irrevocably changed when she was diagnosed with EDS two years ago. Since then she has been hospitalised countless times and her health has deteriorated rapidly in recent months.  Her devoted family have faced an uphill battle to get specialist treatment for her in Northern Ireland, as a full medical and multi-disciplinary team to manage the illness does not exist here.  They say medical professionals here have not made the connection between the multitude of conditions that patients with EDS can have and that the various health experts dealing with Séanín’s condition do not communicate with each other to coordinate her care.

Their frustrations are shared by EDS sufferers and their families across Ireland who are united in their condemnation of the inadequacies of the health service both here and across the border in finding a definitive plan of care and treatment for people with the debilitating disease.

Such is the severity of Séanín’s condition that in order for her to avail of vital treatment in London, she requires full medical support on her journey and must pay for the specialist medical services she will receive.  Her family have thus embarked on their fundraising campaign and, as it gathers momentum, Seanin’s sister Louise spoke to The Examiner about the family’s efforts to secure the treatment and how this rare condition has affected her sister’s life.