THE FIRST ever information day for sufferers of a genetic condition that gave a brave County Limerick boy impetus to live out his dreams is being held in May.
11-year-old DJ Grimes from Bruff was diagnosed with Bardet-Biedl syndrome (BBS), which means he will lose his sight in years to come.
When DJ learned the frightening truth about his condition, instead of crumbling, he and his mum, Caroline, drew up a bucket list of things he wants to do.
Among the adventures DJ wanted to experience was seeing how a newspaper is put together. He spent a happy day at the Limerick Post offices last year doing just that.
On May 13, the Dunsilly Hotel in County Antrim will host an information day organised by the Bardet-Biedl Syndrome Regional Group Ireland. It’s the first event of its kind for the rare condition that affects approximately one in every 100,000 people.
The one-day event will feature key speakers including vision loss charities, medical experts, and individuals with personal perspectives of those living with BBS. Internationally renowned Professor Phillip Beales from Great Ormond Street Hospital in London will also address the gathering.
Professor Beales is currently developing innovative gene therapy that could potentially save the eyesight of countless people living with BBS now and in the future.
Bardet-Biedl syndrome is known to impact many bodily organs. Common features include visual impairment, obesity, hyperphagia (insatiable hunger), kidney abnormalities, developmental delay, speech and language difficulties, extra fingers and/or toes, mobility issues, and learning difficulties.
The Bardet-Biedl Syndrome Regional Group host regular social meetings via Zoom, as well as in-person meet ups.
Further information on the event or Bardet-Biedl Syndrome (BBS) Regional Group Ireland, can be had by emailing Lindsay McKnight at lindsay.mcknight@bbsuk.org.uk.
