By Rose Barrett
FOR mothers Louise O’Keeffe and Laura Egan, both mothers of children with rare diseases, celebrating Rare Disease Day and uniting families across the country this Sunday February 28 is vital.
The pair established ‘Rare Ireland’ in 2017, a group which has over 1,000 member families living with rare conditions (Neurofibromatosis Microdeletion Syndrome).
“We now have almost 5,000 followers with Rare Ireland established on Facebook, Instagram and Twitter,” said Louise, a mother of three who lives in Swords.
“Some of our children are the only ones in Ireland with their diagnosis, some are the only known case in the world and unfortunately, some are so rare they have not as yet, been identified.
“Our group includes children and adults recovering from rare cancers to children who live with chromosome abnormalities, chronic health conditions, epilepsy, as well as intellectual and physical disabilities, autism and behavioural disorders.”
Louise noted that it is parents who often educate medical professionals about the complex conditions their children live with. They also participate in research studies; anything to help science improve the quality of life for their children.
Louise’s seven-year-old daughter, Ella, has Neuro Fibro Mitosis Microdeletion syndrome, a neurological condition that causes tumours to grow throughout the nervous system.
With a son, Lee (13) and a baby daughter, Molly, Louise is very grateful for the support of staff at the Holywell Educate Together School in Swords.
She told Dublin Gazette: “Ella has autism, intellectual disability, ADHD, dyspraxia, joint problems, benign tumours, developmental delays and even further issues.
“She was discharged from early intervention services two years ago before she started primary school. We’ve availed of no services since, and pay for everything privately – occupational and speech therapy, psychiatry, assessments and so on.
“I am her full-time carer, but thankfully, she attends Holywell ET which is great and provides Ella with such a high level of support.”
Louise feels that is why Rare Ireland is vital.
She continued: “We have a strong committee of 11 members, all parents of children with rare diseases who devote hours behind the scenes to help other parents accept and learn about their children’s conditions.
“The group spends a lot of time advocating for our children’s needs to be acknowledged and fighting for appropriate care and services”.
When Laura Egan’s daughter Alanna, now aged 20, was diagnosed with Koolen de Vries syndrome, there weren’t even leaflets or information available.
“She had to do the research herself before the accessibility of the internet,” said Louise. “And must have felt isolated in her journey. I met her online and, together, we decided to set up Rare Ireland”.
Rare Disease Day
“It is important that we recognise Rare Disease Day and celebrate our amazing children. Last year we had an amazing day with Michael D Higgins at Áras an Uachtaráin.
“This year we will be celebrating virtually (members only) so we are reaching out to public figures, the media and community groups to help raise awareness for our children. A huge amount of work goes into it,” said Louise. “As this is the only parents’ support group in Ireland.”
RDI will mark Rare Disease Day on Sunday to create awareness of the 7,000 known rare diseases, many of which have no treatment. Hundreds of patient organisations from countries all across the world will hold activities.
RDI is holding a ‘Raise a Toastie’ event, asking members of the public to “raise a toastie to raise awareness on Rare Disease Day’ to highlight the challenges faced by the estimated 300,000 in Ireland living with rare diseases.
It is estimated that around one in 20 people will live with a rare disease at some point in their life. Organisers are asking the public to make a toasted sandwich and share their culinary creation on social media using the hashtags #raiseatoastie and #rarediseaseday.