Longford school showing their colours for Rare Disease Day

Tomorrow building's across the globe will light up in blue, green and pink to bring attention to the plight of millions of rare disease sufferers across the world. the pupils of one Longford school will also do their part. 

Rare Disease Day is a Global awareness day to celebrate and raise awareness of the 300 million people living with rare disease worldwide. Tomorrow is a day to celebrate the 300,000 Irish people living with rare disease and remember those who have lost their battles.

Ballymahon’s Erica O'Meara is very aware of the impact of rare disease on a family. Her first born, Kira suffers from NF1 (Neurofibromatosis type 1) Gene Deletion and has had many surgeries. Her son Kalvin has a duplication of the 7th chromosome and a deletion on the 12th chromosome also known as 7.q.11.23 duplication syndrome.

In October of '21 Erica's husband, Trev, passed away from a brain tumour called an Astrocytoma in his cerebellum.

Erica is a tireless campaigner to raise awareness about living with rare disease: “This year we have arranged for several buildings and landmarks across the country to light up in a chain of light which symbolises breaking the isolation associated with rare disease. We held two sponsored dip/swims in the sea and there are several coffee mornings organised for tomorrow morning.”

The campaigner says public awareness is important: “Our message is that “rare is many”. Together our conditions are rare but collectively they are common. There are approximately 7,000 different rare diseases, when they are all put together our community is larger than any disability community in the country but because our conditions are unknown by the general public we have very little awareness or acknowledgement.”

Rare Ireland Family Support Network was set up in 2017 by two mothers Laura from Athlone who's daughter Alanna has Koolen De Vries Syndrome and Louise O' Keefe from Dublin who's daughter Ella has NF1 microdeletion syndrome. They realised that there was no Irish organisation to support families whether they were newly diagnosed or further along on their rare journey.

Erica spoke of her family circumstances: “When my daughter Kira, now 18 was diagnosed as a young child during investigations for digestive issues, her GI consultant told us that my husband Trevor most likely also has the condition and he referred us for further testing.

“With that shocking news, we took the train back trying to wrap our heads around this barely known rare disease. It was a nightmare. The not knowing. The isolation. I had to do my own research and become an expert on this condition. NF1 Microdeletion Syndrome.”

Joining with other people in a similar circumstance was important for the caring mother: “In 2017 I met Louise through an American online support group and she invited me to join this new Irish group with about 100 members. Her daughter was born with the same condition as Kira. It's a very cruel disease which causes tumours to grow anywhere on the body but particularly along the nervous system. I joined the committee early on and am so proud to be part of this phenomenal support group.”

Since that date there have been several improvements: “Before Rare was set up, families were often given the address of a UK website and told not to Google their child's condition, which was exactly what parents are going to do when no one knows what they are dealing with. We now have 1700 members and are a registered charity.”

Rare Ireland is the only charity organisation in Ireland offering support to families affected by rare disease: “We offer families the practical support they need to improve their quality of life. When you receive a rare diagnosis in Ireland, you go on a three year waiting list to see a genetic consultant, in order to receive adequate information on your child’s condition. This excessive wait adds unnecessary stress to already struggling families.”

Since becoming a charity in 2022, Rare Ireland has subsidised private genetic appointments, private speech and language therapy, occupational therapy, physiotherapy, play therapy and psychology appointments for families who don’t receive these services through the HSE.

“These services help children with rare conditions to reach their potential, not receiving appropriate therapies can have a detrimental affect on their development,” Erica explained, “Rare families have no option but to pay privately for appointments not provided by the state, Rare Ireland eases the financial burden this causes.”

The support of Rare is wide ranging: “We also send gift boxes to rare children during prolonged hospital stays, this is a small touch but means so much to sick children and helps lift their spirits. We strive to support families in any way we can.”

Tomorrow February 28th 2023 the 2nd class pupils in St Matthews Primary School in Ballymahon, Longford are having a non uniform day and showing their colours (blue, green and pink) for Rare Disease Day tomorrow. Weather permitting they will go on a short walk.