The MOTHER of a four-year-old boy living with a rare gene mutation is appealing for support to give her child a better quality of life.
James Carroll from Bruff was born with a mutation of the gene CACNA1G causing spinocerebellar ataxia type 42. This extremely rare condition means James cannot talk, walk or sit up unaided. He is fully dependent for every aspect of his daily life including drinking, eating, moving and playing.
He also suffers with severe digestive problems, agitation and cramps in his legs which can be very painful.
Although James has many physical limitations and extensive daily care needs, he is expected to live a long life so his family needs to plan for his future which includes renovating their home for his wheelchair and physiotherapy needs.
James’ mother, Louise Roche Carroll from Kilmallock, was initially reluctant to reach out but was persuaded by her sisters that it would be the best thing for him.
A GoFundMe campaign has been launched entitled James’ Journey: Help Our Hero.
“James is great. He’s so happy and he loves being on the floor kicking around but there’s just not enough space for him and he’s not getting any smaller,” Mrs Roche Carroll added.
The money raised will go towards a bedroom and wet room catered specifically to James’ needs and in time a kitchen extension that will drastically improve his quality of life.
Louise’s pregnancy had been uneventful with normal findings on the standard prenatal tests. Everything seemed normal until James began to experience seizures at four weeks old.
“We only got the official diagnosis last November. For years we never had a name for it. I haven’t heard of anyone else in Ireland or Europe suffering with it and the doctors don’t know anyone either.”
Donations can be made at https://www.gofundme.com/f/james039-journey-help-our-hero. Meanwhile, a sponsored 10k Run and 5k Walk will also be held in Bruff Rugby Club on Sunday August 25.
