Helping families feel less alone

RARE Disease Day 2024 takes place today (Thursday), February 29. Held on the last day of February each year, this global event aims to raise awareness and generate change for the 300 million people worldwide living with a rare disease, their families and carers.
Rare Ireland is the voice for families living with rare conditions in Ireland, offering understanding and support, and advocating for those affected by rare diseases.
Chatting to The Mayo News, Westport native Selina Neal, a member of the Rare Ireland committee, explained that Rare Disease Day is ‘basically about creating awareness’, adding that it’s ‘a day that we really like to celebrate’.
Many fundraising events have been taking place to raise awareness for the day, including cold-water dips, coffee mornings and a skydive by parents and committee members.
Rare Ireland, a parent-run charity, was established in 2017 by two mothers, Laura Egan and Louise O’Keefe, after they experienced a lack of support and information when their children were diagnosed with rare conditions.
“They were two parents who felt that they were given a diagnosis of their child’s rare condition – and that was it,” Selina said.
“They were sent out with no more information, no help whatsoever, not knowing what the future is going to bring. So they set up a Facebook group to begin with. It was just kind of trying to help other parents who were going through the same thing. And from that it’s developed into a charity that’s able to help” she explained.
“Rare Ireland has a board of trustees that manages the charity in accordance with the principles set out in our constitution. Our committee also consists of several trustees and currently has 12 parents, all of whom contribute on a voluntary basis, to support our members and raise awareness of the many challenges facing the rare community.
“We’re supporting almost 1,700 families across Ireland, and that’s done through one-on-one support.”
The charity provides subsidies for different therapies, as these can be very expensive. They also can have very long waiting lists, with many waiting for years before getting to see someone.
The organisation also offers genetic counselling from a top consultant, Dr Anand Saggar, who frequently comes over from the UK to provide genetic counselling for members, subsidised by Rare Ireland. This genetic counselling can help families understand their child’s diagnosis and come to grips with it quicker.

Information vacuum
SELINA was one of these parents left with no information after diagnosis.
Her eight-year-old daughter, Maya, was diagnosed with Beckwith-Wiedemann Syndrome (BWS) at birth.
“When I was pregnant with Maya,” she said, “we didn’t really know anything. I was going, ‘Something’s not right here’, and I basically got told by doctors, ‘Well, your last baby was fine, so this baby will be fine’, which is probably the worst statement you could say to anyone.”
Maya was arrived into the world through an emergency Cesarean section in 2015. She was born with an extremely large, protruding, tongue, and it looked like there was a line drawn down the centre of her body, and half of her body was larger than the other. Shortly after birth, little Maya was taken to the baby unit due to low glucose levels.
Selina said she and Maya’s dad, Michael, ‘didn’t know anything about rare diseases’ and had only been informed about more common conditions, such as Down syndrome.
However, Selina added, they were ‘lucky’ that Maya had very clinically obvious features, and when she was just a few hours old, they were told that doctors believed she had BWS and she was transferred to Temple Street Children’s Hospital.
Maya spent the first five weeks of her life in Temple Street, and still Selina and her family ‘knew nothing’.
“No one could tell me anything about it,” she recalled. “We did see a geneticist who explained a bit about it, but there wasn’t really any information. We didn’t know any other parents. We didn’t know who to get in touch with, where to go or what to do. None of this information was given.
“That was a really hard time for us. We struggled. There were an awful lot of questions. Did we do this? Did we do something wrong? Is there something we could do to fix this?”
Ms Neal says they were ‘on that journey for a few years’ until they managed to find support networks in the UK and America.
Now, nearing her ninth birthday, Maya is a ‘pretty healthy kid’ – a ‘little diva’, her mum said with a laugh.

Invaluable support
BWS is an overgrowth syndrome, where one side (or parts) of the body grows faster, but Mayo also has other conditions, including tumours and hyperinsulism.
“She’s been through a bit now; she had tumours when she was about eight months old. She’s had a couple of surgeries,” explained Selina.
“That’s something we’ve been monitoring her entire life. Like, she’s been out of hospital checking for scans for tumours, and she’s been out checking for her glucose levels and all that. So it’s just an ongoing thing with her, but she’s a really happy, healthy little person.”
Rare Ireland has become an invaluable source of support to its members. The aim is to create as much awareness and support as possible for families around Ireland – something Selina ‘didn’t exactly have’.
“There are so many different conditions in our group, and our big thing is, even if a condition isn’t exactly the same, a lot of them have similar features, characteristics and issues that another parent has been through, and they’re able to provide the support and information for other families.”
The charity doesn’t just offer financial support, it also offers invaluable mental support.
Families living with rare conditions face many prolonged hospital stays, creating many challenges. To help lift their spirits, Rare Ireland also sends gift boxes and care packages to the hospital.
People can support Rare Disease Day and Rare Ireland by sharing stories, hosting events and donating. There’s also an international ‘Light Up for Rare Disease Day’ initiative, which aims to create a global chain of green, purple and pink lights shining from homes and public buildings across the world.
“We always need support,” Selina said, adding that all donations to Rare Ireland go directly towards helping families across the country.
While we wish they didn’t need to exist at all, charities like these, helping families like Selina’s, are so important. This Thursday, think about what you might be able to do to help the cause.

To find out more information or to make a donation, visit Rare Ireland’s website, rareireland.ie, or its Facebook and Instagram pages.