THE PARENTS OF a young boy who suffers from Angelman Syndrome have spoken out to increase awareness of the syndrome, while equally praising the work of actor Colin Farrell, currently filming in Enniskillen, whose eldest son has been diagnosed with the syndrome.
According to Foundation for Angelman Syndrome Therapeutics (FAST), this is ‘a severe neurological disorder characterised by profound developmental delays, problems with motor co-ordination (ataxia) and balance, and epilepsy. Individuals with AS do not develop functional speech.
Barry Mimnagh, and his wife Claire, who live in Ederney, along with sons, Joseph (3) and Daniel (4) have never met another parent whose child suffers from the condition, and have faced many challenges since their son Daniel was born.
“When Daniel was two years old”, Barry explained, “it became apparent that he was not reaching his developmental milestones.”
“For the next two years, numerous hospital visits, (brain scans, etc) yielded no diagnosis and, so, no treatment options, and perpetual worry for us as a family for fear of what could be happening to him.
“Various potential diagnosis were put forward, each with their crushing implications, only to each be proven wrong upon investigation.”
After comprehensive genetic screening, it turned out that Daniel had Angelman Syndrome, of which there is a 1 in 15,000 chance.
Out of that demographic, Daniel has a very rare sub-type, placing him one in 300,000.
“Once we had a diagnosis”, Barry went on, “ we could embark upon the most appropriate forms of early intervention for Daniel, ie Conductive Education (at Buddy Bear Trust in Dungannon), occupational therapy and physiotherapy, or start Daniel on life saving medication.”
Colin Farrell himself, whose son James suffers from Angelman Syndrome, has been an advocate of the condition awareness.
“You can see Colin’s YouTube clips on the Ellen DeGeneres show, The Letterman Show and as well as being the public face of the Foundation for Angelman Syndrome Therapeutics (FAST)).”
People living with AS require life-long care, intense therapies to help develop functional skills and improve their quality of life, and close medical supervision, often involving multiple medical interventions.
Barry concluded: “We want to emphasise to the general public, ie those parents with a non-diagnosed child, the importance of securing a diagnosis and thus obtaining appropriate, life saving, medical and educational intervention. And, to give hope and incentive to those who need it.”
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