14 October 2023 , 13:49
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A three-year-old girl received a rare diagnosis after basic actions like closing her hand and sitting up proved difficult.
Rebecca Carney noticed her daughter Shea was a "floppy baby" who had struggled with her speech. Now young Shea has been diagnosed with GAND, a neurodevelopmental disorder with a plethora of conditions and effects. Low muscle tone, apraxia of speech and intellectual disability are all potential characteristics of the GATAD2B gene mutation. A charity, GAND AID UK has since been set up by Rebecca and Brian Carney. The couple are hoping to bring attention to their fundraising and awareness campaign, and are doing just that through a Junior Hoops Football Club team.
The Junior Hoops Football Club will wear the charity emblem on their kit this seasonThe Haslingden, Lancashire-based club posed for photos with Shea as part of a charity appeal as Rebecca looks for sponsors for the GAND AID group. Rebecca said: "Junior Hoops were looking for sponsors and we are big believers in supporting the community. They met Shea and it has created awareness about the condition which is what we hope to do." The mum-of-two described Shea as a "very happy" and "sociable little girl" who is now working on building her strength up, LancashireLive reported. Rebecca has also credited a Morrisons in Bacup for letting the charity to leave till buckets out.
She added: "It is about being involved in the community and it is important to keep the community going. It supports you. People have been so positive and supportive. Morrisons in Bacup have allowed us to leave buckets at their tills to raise funds and tell Shea’s story to their customers." Just 330 people worldwide are believed to have been diagnosed with GAND, and the medical field "doesn't have much knowledge" because of how rare the disorder is.
Rebecca continued: "There is one specialist based in America and a charity there called Helping Hands for GAND. We flew out to America to meet other people with the condition and to understand more about it. The trip made me realise there was nothing at home for support. We felt as a family there ought to be something in England. It is a continuous learning process for us as parents and for Shea. There are 35 families scattered around England with children who have the condition. We hope in the future to get everyone together. We also hope to raise money to support patients with GAND and in the future collaborate with specialists and the charity in America."
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Rebecca says when Shea was born she noticed she was a ‘floppy baby’ and something did not seem right. She says she felt as though she was running around in circles, switching from the NHS to going private to get answers. Doctors carried out Whole Genome Sequencing to look at Shea’s DNA. It took six months for results to confirm the GAND diagnosis, with doctors describing the condition as spontaneous in Shea's case. Nobody in her family carries the gene.
With charity work underway, Junior Hoops Football Club, which is run by 33 admins and coaches on a voluntary basis, has confirmed they will feature the charity logo on their kit for their current season. Stephen Nevitsky, the U14s coach, said: "It is important for children to have a place to go to play the sport and sponsorships like these really help us continue to do that. Football clubs like ours are heavily supported on sponsorships so for them to sponsor us is fantastic. The team are over the moon with the kits."