“We’re like a third-world country when it comes to education on syndromes.”

Rare syndrome highlights shortfalls in support services in Ireland

The mother of a 14-year-old boy with a rare genetic disorder has hit out at the lack of support available for people with rare symptoms, comparing Ireland to a third-world country.

Caroline O’Connor’s son DJ suffers from Bardet-Biedl Syndrome (BBS) which is caused by mutations in at least 14 different genes.

DJ, born with extra fingers and toes – a characteristic feature of BBS – faced significant health challenges from the beginning of his life. At just eight days old, he experienced his first eye infection, and by his first year, he was battling heavy respiratory issues.
In addition to this, he began experiencing night blindness at three years old, another symptom of the syndrome. Over the years, his vision has continued to deteriorate. “Both me and his dad were tested, and we share the same gene, BBS6. “It’s very rare,” explains Caroline, DJ’s mother.

Living with Bardet-Biedl Syndrome

“The syndrome is attacking his retina. His peripheral vision is completely gone, and now his central vision is closing in” says Caroline.
Caroline mentions the progression of DJ’s condition. “They want us back in six months, it’s their way of saying his vision is rapidly going. DJ has already noticed himself he is losing his sight. “He could lose up to 100% of his sight” she explains.

Despite years of advocating for her son, Caroline says she has struggled to secure the medical support he needs. “Ireland isn’t educated enough about rare syndromes or diseases,” she adds, highlighting the lack of understanding within the healthcare system.

DJ has been waiting for a medical procedure for eight years, with his case repeatedly delayed due to limited knowledge of the syndrome. Caroline expresses her frustration: “They don’t know the syndrome, so they keep pushing it off.”
Heart failure is one of the severe effects of Bardet-Biedl Syndrome. Despite this, DJ’s heart has only been checked once in 14 years.
“Doctors here don’t want to take on his case because of how complex the syndrome is. If we were in the UK, it would have to be checked yearly” she says.

She also describes the difficulty of transferring DJ to a paediatrician, as doctors are too uninformed: “They want to transfer him to a paediatrician, the waiting list for that can be one to two years, and that paediatrician might not be able to do that.”

Despite these challenges, DJ remains determined. Caroline shares that her son’s biggest fear is that he will be forgotten if he loses his sight.

“DJ’s eyes are the last thing people will worry about.”

Caroline says, “he wants to live the teenager life independently, but we’re at the stage where he’s going to need a lot more support, she explains, “I find there aren’t enough services down this way.”

However, she also sees growth in his confidence. “He’s learning to be proud of himself,” she said. “He used to worry about when the syndrome would take over, but now he’s proud of his independence.”

Healthcare availability outside of Ireland

In September 2024, DJ attended an activity weekend in Birmingham, where they have a clinic for those who have Bardet Biedl Syndrome. His mother says “meeting kids his age going through the same thing” helps create a community surrounding BBS.

They hope to be able to access the clinic in Birmingham. She outlines the services they provide. “Seven doctors will check everything in one day. They do every test possible”.
“They give you a plan to come back to Ireland that your doctor should follow through. They’ve sent me booklets to send to doctors here. It’s not really getting anywhere” she recalls.

Statistics for BBS syndrome are based on UK data, not Irish. While the data suggests that one in 50,000 to one in 100,000 children are born with this syndrome, the numbers do not accurately reflect the situation in Ireland.

Representation through Social Media

Caroline created a blog in 2021 on Facebook to post updates about DJ’s journey with BBS. She shared the joy they both get from the posts appreciating the support from those who comment on his posts. “He loves it. He calls them all his fans. I know that makes him so happy to be reading all the messages and seeing how many likes each post gets.”

Caroline recognises the importance of sharing their experiences online. “People want to hear from him; he should explain to people that it’s not all great, as much as he smiles for everything.
“The page is what keeps us going” Caroline concluded. You can follow DJ’s story here.