Granny with MBE X factor

Maude Brownlie receives an MBE in the birthday honours.
Maude Brownlie receives an MBE in the birthday honours.

A Gattonside grandmother, who raised funds and awareness to battle a rare genetic syndrome affecting herself and her family, is now an MBE.

Maude Brownlie, 70, set up the Helen Maude Garfit Fund, named after her grandmother (a Wimbledon ladies’ doubles champion), to support research into fragile X and fragile X-associated tremor ataxia syndrome (FXTAS), presently carried out at the University of Edinburgh Patrick Wild Centre.

“I’m absolutely thrilled and delighted,” she told The Southern. “So little is known about fragile X, I wanted to try to raise awareness with health professionals and also the general public to help other families.”

Fragile X syndrome, traced back to Maude’s grandmother, is carried on the X chromosome, and is the leading cause of inherited learning difficulties and a common cause of autism. While older carriers of the condition can suffer from FXTAS, a neurological degenerative disorder similar to Parkinson’s disease, younger female carriers may suffer early ovarian failure. Fragile X is carried by or seriously affects a number of Maude’s immediate family.

Fragile X first arrived in her family’s conscience in September 1999, after the birth of Maude’s first grandchild, Ewan. The former nurse, who sat on the UK Nursing Council and the Borders Health Board for five years, together with her family, became aware of her grandson’s neurological symptoms.

Six days after the birth of daughter Liz’s second child, Harry, in 2001, results confirmed 20-month-old Ewan was suffering from fragile X syndrome, for which there has been a reliable test only since 1991. Further tests followed and Harry was also discovered to have fragile X, though not as severely.

Later in 2005, Maude’s family and friends noticed her involuntary head shake, which worsened over the next two years into a loss of balance, coordination and articulation. Extensive tests at the MIND Institute in Sacramento, California, revealed Maude to be the first known UK female to suffer from FXTAS. Their experimental drugs programme dramatically improved her symptoms by 50 per cent.

“I wanted to get this medication available on the NHS for the benefit of others,” she said. She hopes the Helen Maude Garfit Fund, which to date has raised £75,000 for the Patrick Wild Centre at the University of Edinburgh, can benefit future research. It is estimated there are between 15,000 and 20,000 fragile X sufferers in the UK.

“One woman in 129 to 250 is a carrier of fragile X syndrome, while one man in 250-800 is also a carrier of Fragile X,” she said. “The Patrick Wild Centre has opened up a register of fragile X families, including carriers and those affected.” Donations can be sent directly to Maude or to the Patrick Wild Centre, labelled Helen Maude Garfit Fund. Her brother Timmy Douglas has also written two poem collections called ‘Borderline Ballads’ and ‘Country Places’, and all proceeds from the sales go to the Helen Maude Garfit Fund.