Friedreich’s Ataxia (FA)
FA is a rare neuromuscular degenerative condition. It’s a life-shortening, crippling condition for which there is currently no treatment or cure.Typically, kids that are healthy and active start to develop problems just as they enter their teens, with rapid deterioration of motor skills and balance, eventually leading to a diagnosis of FA.
Symptoms include any combination, but not necessarily all, of the following
· loss of fine and gross motor skills (ataxia)
· loss of balance and reflexes
· heart disorders (the usual cause of premature death).
· slurred speech
· scoliosis (curvature of the spine)
· diabetes mellitus (20% risk)
· vision and hearing impairment
· fatigue – sufferer’s lack a vital protein that produces energy leading to constant tiredness.
There’s about 400 – 500 sufferers of FA in Australia.
FARA – Friedreich Ataxia Research Association – giving hope
Established in 2003, FARA raises funds for research and funds clinical trials.
From little or no research 10 years ago, and little or no hope, there are now several drugs entering clinical trials. Newly diagnosed families are given a much more optimistic outlook and there is well-founded hope for the future.
Effective treatments are so close that we believe the current generation will be the last to succumb to the disease. With your support, they could be the first generation to be saved!
G’onya Adventures would like to help make a difference for young people in Australia and the world who suffer with this disease. It was a pleasure and amazingly inspiring to meet the Dwyer sisters and see their fighting spirit first hand.
The Dwyer Girls
Jamie-Lee and Samantha fit the classic profile for kids with Friedreich Ataxia; both were normal healthy kids until Jamie-Lee developed a gait problem around the age of 9 or 10, and this eventually led to the diagnosis of FA for both Jamie and her younger sister when the girls were aged 11 & 10 years.
The paediatrician’s advice was “there’s nothing that can be done, so try to enjoy what limited time you have while your children are still healthy as they will endure an increasingly reduced quality of life and it’s unlikely they will make 20 years of age”.
Now aged 22 & 21, Jamie and Sam are outgoing and attractive young women. Both attend university, and despite the obvious challenges they face, they remain remarkably cheerful.
Jamie and Sam refused to accept the pediatricians’ advice that nothing could be done. Their own efforts have raised funds that have helped deliver research that’s already improved their quality of life, and they are committed to helping others achieve the same positive outlook and outcomes.