Prince William gave Gattonside grandmother Maude Brownlie an MBE last week, to honour her fight against Fragile X.
The rare genetic syndrome is carried by one woman in 130-250, and one man in 250-800, and, when inherited fully mutated in children, causes learning difficulties and autism.
Older carriers can suffer from FXTAS (‘fragile X-associated tremor ataxia syndrome’), a neurological degenerative disorder like Parkinson’s disease, while younger female carriers can suffer early ovarian failure.
Two of Maude’s grandchildren were born with Fragile X, among the estimated 15,000-20,000 in the UK, while she became the first known UK woman to suffer from FXTAS.
“Most women don’t know they’re carriers. We didn’t know. Very few GPs have ever heard of it. It’s frightening,” said Maude.
Maude’s charity, the Helen Maude Garfit Fund, has so far raised £100,000 for research at Edinburgh University’s Patrick Wild Centre, funding two full-time PhD students, a carriers’ register, and drug-trials. This week she presented £10,000 to the centre’s ProfessorEve Johnstone, Prof Peter Kind, and Dr Andrew Stansfield.
New father, The Duke of Cambridge, awarded Maude her gong at Buckingham Palace on November 12.
“Prince William was delightful,” she told us. “We spoke about doing the best for our children. I said I’d decided to do the best I could to raise awareness and funds for research, to prevent problems for other little people.”
The Prince joked: “Oh, I know all about problems for little people. We do our best for our little people.”