Help Us to Find Our Kids a Voice; Genetic Disorders Rett Syndrome and Fragile X Are Little Known or Understood by Most of Us. but They Are Only Too Real for the Families Who Are Confronted with a Diagnosis. Amanda Keenan Meets Three Parents Who Are Learning to Live with Their Child's Condition as They Each Gear Up for the Bupa Great Edinburgh Run to Raise Awareness
EUAN SWEET, 36, FROM EDINBURGH WHEN teacher Euan Sweet noticed his son wasn't developing as quickly as other children his age, he thought it was just a phase and nothing to worry about.
But a chance visit to the doctor confirmed that three-year-old Oliver was suffering from a rare genetic condition called Fragile X. Euan explained: "At first we just thought he was a little bit slow with his development.
"We took him to the doctors, thinking that everything would be OK but then a blood test revealed that he has Fragile X. "My wife Dawn and I were both left in shock as we had never heard of the condition before and were told it will affect his development and learning."
Six months on from the diagnosis the family are trying to come to terms with Oliver's condition.
Euan said: "He cannot speak at the moment but can communicate with sign language, which he has just started to learn.
"He's picked it up really fast. We are also learning but Oliver is much better at signing than my wife and I. "We are still waiting to find out if he is autistic, too, as Fragile X has links with autism and behavioural difficulties. There are a variety of symptoms that he can develop throughout his life and we don't yet know what the future will hold.
"Right now our focus is on attending speech therapy and physiotherapy with Oliver in the hope both can help."
Euan is also taking part in the race and hopes to raise funds to pay for more research into Fragile X. He added: "If it can help in any way then I am willing to do it.
"This is a relatively new medical condition and scientists and medics are still learning about it."
? To donate to Euan's campaign, log on to https://mydonate.bt.com/fundraisers/euansweet1 STEPHANIE GALBRAITH, 22, FROM PENICUIK EACH time Stephanie Galbraith sees her daughter looking at pictures of her dad she is filled with sadness.
Brooke's father David was killed by a bomb in Afghanistan when she was just four years old.
Then, a year later, Brooke was diagnosed with a rare degenerative illness known as Rett Syndrome, which means she struggles to communicate. One of the few words she can say is dada, which she repeats every time she looks at pictures of him.
Lance Corporal Kirkness was 24 when he died and although he and Stephanie had split, they remained close for Brooke's sake.
Stephanie said: "He had such high hopes for her future and he was killed before we discovered she has Rett syndrome.
"Now I don't know what kind of future she will face. Each day is a struggle.
"I want her to remember her dad. Thankfully, dada is one of the few words that she can say."
Now six, Brooke struggles with things many of us take for granted. Her mobility could one day be affected and there is no sign of her speech fully developing.
Stephanie explained: "It's very difficult and she gets frustrated easily, which leads to hysterical crying fits.
"I take each day as it comes but I worry about her future. She might need round-the-clock-care."
Despite being born perfectly healthy, Brooke struggled to learn to walk and her limited speech left Stephanie so concerned that she contacted her GP.
Blood tests confirmed Rett syndrome.
Stephanie said: "We were still trying to come to terms with the loss of Brooke's dad.
"She also struggled with not being able to see her dad any more and that was just so sad. To help her come to terms with his death I've put up pictures of them together on her bedroom wall. See looks at them often - it is important that she remembers her dad. …