Our son has one of the world's rarest diseases ..help us to find a cure; MUM DESPERATE FOR RESEARCH MIRACLE.Byline: BY MICHELLE MICHELLE Mid-Infrared Echelle Spectrograph O'KEEFFE
THE parents of an 18-monthold boy - one of only 50 people in the world with a rare disease - have pleaded for help to find a cure to save him.
Brave Joseph Swift has Aicardi-Goutieres Syndrome and has to be fed through a tube to prevent him from choking. He needs round-theclock care.
The tot needs to visit the hospital every day because of the condition which leaves him with very little control over any muscle in his body.
His distraught mum Colette, 34, originally from Fermoy, Co Cork, is desperate to raise money for research.
She is living in hope that a cure may be found for the degenerative neurological disease Noun 1. neurological disease - a disorder of the nervous system
nervous disorder, neurological disorder
disorder, upset - a physical condition in which there is a disturbance of normal functioning; "the doctor prescribed some medicine for the disorder"; . Colette said: "The oldest person with this syndrome still surviving is 17.
"Every day counts as far as we are concerned. Every day with Joseph is precious. I would hate for any parent to go through the year we have gone through.
"We keep hoping that one day soon researchers might make a breakthrough in either stem cell stem cell
In living organisms, an undifferentiated cell that can produce other cells that eventually make up specialized tissues and organs. There are two major types of stem cells, embryonic and adult. research or gene therapy."
Colette is a former international cyclist who represented Ireland in two world championships.
She and her husband Matt now live near Grenoble in France.
They said their son's condition is so severe he needs round-the-clock care and daily sessions at care centres and hospitals.
Matt is taking part in the Ironman Triathlon ironman triathlon
event combines swimming, bicycling, marathon run. [Pop. Cult.: Misc.]
See : Endurance in Switzerland on July 13 to raise money for research.
He will compete in a 3.8km swim, a 180km cycle and a 42km run.
Several of Colette's relatives in Ireland are fundraising with cake sales and other events.
And Colette added she is hoping people might make a donation through a special website set up to highlight her son Joseph's plight.
FATAL SIGNS SHOW EARLY IN LIFE
SYMPTOMS of Aicardi-Goutieres Syndrome usually appear within the first six months of life. It is generally either fatal or results in a persistent vegetative state persistent vegetative state: see under coma, in medicine. . Generally, the first symptoms are vomiting, feeding difficulties, and lack of progress in motor and social skills. The course of the disease is severe and progressive - death occurs in 25 per cent of patients before 17.
BRAVE BATTLE Colette, Matt and Joseph Swift yesterday