Family of young equestrian with rare genetic disorder to run show for charity that gave support

  • A horse owner is raising funds for a charity that offered support when her daughter was diagnosed with a rare genetic condition that will eventually lead to blindness.

    Louise Fletcher-Gwillam hopes the funds raised for BBS-UK, which helps the families of those with Bardet-Biedl syndrome (BBS), will not only “give back” to the charity but also help find treatments.

    BBS affects just one in every 100,000 people and is often characterised by the progressive eye disorder rod-cone dystrophy, which leads to blindness. It also can also cause obesity and renal problems.

    Although the condition is present from birth, Louise’s daughter Ella Crowley, 15, was not diagnosed until the beginning of this year when her eyesight began to deteriorate.

    “She’s had a lot of the symptoms since she has been born but no one had ever joined the dots up,” Louise said. “It was only because her eyesight was getting worse and worse that we thought there had to be something more to it.

    “There is no cure for it and for Ella to be told at 15 that she’s going to lose her eyesight has been a lot for her to deal with — BBS-UK contacted us and they have been just amazing with the support they have given us.”

    Louise said that the money she is hoping to raise for them will be ploughed back into the four UK clinics the charity runs — two for adults and two for children.

    “In the background they are trying to do some amazing tests and maybe in the next five years they will have a breakthrough in gene replacement therapy,” she said.

    The charity has been helping the family through a “whirlwind” few months, advising them on adaptations they can make to their home and other changes they can make to help Ella through her GCSEs next year.

    Ella currently has very limited sight, with no peripheral vision, and is registered as visually impaired.

    She enjoys spending time with the family’s 15.2hh piebald cob Bob, who Louise competes.

    “She used to ride when she was little but because she has only a small area of central vision, she finds it difficult out of walk now,” Louise said. “She loves doing groundwork though and she regularly lunges Bob. She’d also happily groom him until all his hair dropped off!”

    Louise has organised a dressage show at her yard in Shareshill, Wolverhampton on 11 September to raise funds, at which the whole family will be competing.

    “Ella is going to do a lead rein test, my husband is going to do an intro and I will do a prelim or a novice,” Louise said.

    She is also holding a raffle to boost the fundraising.

    Local equestrian centres have stepped up to offer their support with  prizes, including Eland Lodge, which has offered vouchers for its facilities and shop, and Somerford Park, which has offered vouchers for its farm ride.

    Other horsey prizes include a worming pack from Westgate Labs and two tickets for Your Horse Live.

    There are also non-horsey prizes including return tickets from Birmingham to London on Virgin trains and a range of goodies from Tesco.

    “It’s amazing how kind people have been, especially considering the times we are going through, when some businesses are only just opening back up and others are not running at a profit,” Louise said.

    Donations to BBS-UK can be made via the charity’s website, or anyone interested in donating prizes to the raffle or buying tickets can contact Louise at louisefletcher1@sky.com.

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