Local mother highlights Rare Disease Day next week

One local mother hopes to increase awareness of rare diseases through her involvement with the charity Rare Ireland and the upcoming Rare Disease Day, next Tuesday, February 28.

Erica O'Meara from Connaught Street Athlone has three children Kira (18) Jack (16) and Kalvin (8), two of whom have very rare diseases.

Kira underwent Genetic testing because of digestive issues and clinical features when she was two years old and was diagnosed with a very rare condition called Neurofibromatosis (NF) Microdeletion Syndrome. It's a very cruel condition which causes tumour to grow anywhere in the body but particularly along the nervous system. Kira is doing very well, she attended mainstream school and is now doing a childcare course. However, her condition is progressive and she will be monitored closely throughout her life.

Erica explained: “Due to the rarity of this condition, we had never heard of it before and had no support, apart from our own family support. We were also given very little information about this condition and had no option but to do our own research. By the time Kira was diagnosed my husband, Trevor had already battled cancer, he was also tested and was also diagnosed with NF Microdeletion Syndrome.”

“Having multiple children with rare diseases is busy, it can be tough juggling both childrens' care needs. Being on my own is difficult and lonely but I have tremendous support from Trevor’s parents (her late husband's parents) and my own dad and sisters.”

Kalvin was diagnosed with 7q11.23 Duplication Syndrome at just three months old following genetic testing. Kalvin has speech delay, dental abnormalities, severe bowel issues, asthma, sleep apnoea and a hole in his heart which is being monitored by Crumlin Children's Hospital.

Luckily, her other son Jack is in good health and is a great support to Erica. He’s hoping to study medicine after his Leaving Cert.

In 2017, Erica met Louise O’Keeffe through an online support group, her daughter Ella also had a diagnosis of NF Microdeletion Syndrome.

“I soon learnt that Louise had set up a group called Rare Ireland with another mother, Laura Egan from Athlone who’s daughter Alanna has a rare condition called Koolen de Vries syndrome. Rare Ireland was established by these two mothers to help ease the isolation parents feel when their children are diagnosed with a rare condition. When you’re dealing with rare conditions that are unknown, even by doctors, the most valuable support comes from other parents on similar journeys."

“I instantly got involved with Rare Ireland by joining their committee. When I joined there was less than 100 members, we now have almost 1.7k members. It has been a privilege to be part of this group and be part of its growth from an online support group to a national charity.”

“Within the committee I have made life long friendships. When Trevor was referred to palliative care my Rare Ireland friends set up a go fund me page to ease our financial burden. When Trevor was sick and when he passed away this incredible team travelled from all over the country to be by my side,” she said.

“Getting involved with Rare Ireland, having their support and being able to offer my support to others has been my coping mechanism. I no longer feel like our family is alone and in turn do what I can to help others feel supported. I am Co-Treasurer, committee member and admin on our Facebook support group. I’m involved in the day to day running of the group and on hand to offer any support I can. We also held Ireland's first ever rare disease conference in Athlone in September 2022. This was attended by over 130 rare families, researchers and medical professionals. We have also opened our first office in Pearse Street, Athlone,” Erica said.

Rare Ireland is the only charity organisation in Ireland offering support to families affected by rare disease. “Rare Ireland strives to support families in any way they can. This support was a lifeline to my family recently.

"In 2019 my husband Trevor was diagnosed with an aggressive brain tumour as a result of his rare condition. From the time of his diagnosis his prognosis was poor but he gave it his best fight. Devastatingly in October 2021 Trevor lost his brave fight. Our family was devastated but Rare Ireland was a massive support to us. Losing my amazing husband is something I will never truly recover from but knowing I have this network of support means the world to myself and our children.”

“Trevor was a very devoted husband and hands on father. We all miss him tremendously. Caring for my rare children is a life that I’ve become very accustomed to. Dealing with their needs and our families grief is an ongoing process. The children are grieving too and with our families support we are getting through each day,” Erica, who is native of Athlone, but now lives in Ballymahon explained.

Rare Disease Day takes place on Tuesday, February 28 this year and raising awareness is high on their agenda. This year they have arranged for several buildings and landmarks across the country to light up which symbolises breaking the isolation associated with rare disease. The white bridge, St Peter & Paul’s Church and the Chamber of Commerce in Mullingar are all lighting up to show their support.

On Saturday, February 25 a group of swimmers will meet on Kilmurrin beach in Waterford for a dip in the sea. On Sunday, February 26 another group are dipping in the sea in Portmarnock beach in Dublin. As Rare Ireland heavily depends on fundraising and donations these two events have been very successful in raising much needed funds.

Since becoming a charity last year, Rare Ireland has subsided private genetic appointments, removing over 30 families from this three year waiting list, with many more booked to be seen in the coming weeks and months. They also subsidise private speech and language therapy, occupational therapy, physiotherapy and play therapy.

Rare Ireland is solely run by parents of young people with rare conditions on a voluntary basis. To get in touch with Rare Ireland if you need their support or would like to volunteer, email rareireland@gmail.com or call Laura on 089 4220228.