A GATTONSIDE grandmother – believed to be the first female in the UK diagnosed with a little-known genetic condition which has blighted her family – is battling to raise awareness of the syndrome.
Maude Brownlie has set up a fund in the name of her grandmother, Helen Maude Garfit, a Wimbledon ladies’ doubles champion, to support research into fragile X and fragile X associated tremor ataxia syndromes (FXTAS), the latter of which she suffers from.
The syndrome, traced back to Maude’s grandmother and carried on the X chromosome, 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 degenerative disorder of movement.
The condition is carried by or seriously affects 16 of Maude’s immediate family.
It was September 1999 when fragile X arrived in the conscience of the 68-year-old and her family after the birth of her first grandchild, Ewan, to daughter Liz Henderson, 43, and her husband Stuart.
Maude said: “When Ewan was about six weeks old, I realised something was wrong. He could not follow your finger if you moved it from side-to-side in front of his eyes.
“I thought it was some sort of neurological problem, but I could not tell my daughter. I didn’t know anything about fragile X as I was unaware of it. But I did know something was wrong.”
Ewan’s health problems continued and the birth of her second grandchild, Lily, to youngest daughter Trish, emphasised her grandson’s issues.
“She was completely OK and it was then that you really noticed the difference,” said the former nurse who sat on the UK Nursing Council for five years.
“Lily was very aware while Ewan was in his own world.
“Liz then used the internet and searched ‘autism’ and discovered that in very severe cases it can be fragile X.
“I was not computer literate at the time so I phoned my husband’s secretary in Earlston and asked her to look it up.
“She phoned back later and said the computers were not working, but I knew she just did not want to tell me.
“She sent a print-out back with Sandy and when I read it, I was mortified. All the symptoms fitted into the pattern.”
While doctors tested Ewan for various conditions, Liz was preparing to have her second child.
And six days after Harry’s birth in 2001, results came back that confirmed 20-month-old Ewan was affected by fragile X syndrome, for which there has been a reliable test only since 1991.
After three weeks there was more heartbreak for the family as Liz and Stuart’s latest child was also discovered to have fragile X, though not as severely.
“It was the most difficult thing for a mother to know that your child and son-in-law have been given such terrible and life-changing news,” reflected Maude.
“The light went out of Liz’s eyes and you could see the sadness.”
Pre-natal tests showed Liz’s third pregnancy in 2003 would result in a severely disabled girl, and the Hendersons took the heartbreaking decision to terminate.
Happily, two years later, healthy girl Tessa was born, followed by three-year-old Tara – they don’t carry the affected gene.
But the health of Maude, who was revealed as a carrier of the faulty gene at the time of Harry’s birth in tests which have since been undertaken by the whole family, was soon to be affected.
She said: “One of my other grand-daughters, Lily, was aged about four when she noticed my head was shaking when I was driving home in 2005.
“I said it was the bumps in the road, but she was insistent my head was shaking and said it often did so.
“I asked others and they said they had also noticed. I went to see a neurologist in Edinburgh about two years later, but he said women never get fragile X.
“However, I discovered that two years previously the first woman had been diagnosed with the condition.
“I wasn’t really bad, but over the next two years it got worse. My balance was affected and I had a couple of falls. I sometimes struggled to put glasses or cups into the cupboard and they would crash on to the floor.
“I was quite an articulate person, but I couldn’t find the words.
“I got depressed which was partly knowing I had passed on the condition to Liz. Liz has never blamed me, but you feel you are totally responsible.”
Maude’s younger daughter Trish had heard of FXTAS at a fragile X conference and emailed the MIND Institute in Sacramento, California, which invited her mother to visit their research programme to take part in a drugs trial.
As a result, Maude and husband Sandy travelled to the United States and four days of extensive tests revealed she did suffer from the FXTAS, the first known female from the UK.
But the drugs worked and her condition improved dramatically on her return to California this year, with two papers published on Maude’s condition by the institute.
She now hopes the Helen Maude Garfit Fund, in conjunction with the Patrick Wild Centre at the University of Edinburgh, can help prevent the misery she and her family went through with the mystery illness, which is believed to be carried by, to affect or to form FXTAS in 20,000 people in the UK.
“But there will be far more people who just do not know they are carrying it or have not been diagnosed,” said Maude.
“We are currently looking for any sort of medication that would help children with fragile X because they get terribly agitated. I believe one future treatment could be gene therapy.”
Little research has been carried out in the UK, though progress has been made in Switzerland, and Maude hopes the fund can support a PhD student to produce a thesis on FXTAS which would probably cost £50,000 a year.
Liz ran the London Marathon earlier this year to raise funds, while she and brother-in-law Gavin are preparing to take on the Venice version in October.
And a clay pigeon shooting competition at Braidwood near Selkirk in aid of the fund takes place on Sunday, September 4. Email firstname.lastname@example.org to enter.