Originally from Dublin, Joe Lawlor has lived in Athy for the last 11 years. His daughter Nathalia suffers from Rett Syndrome, a rare neuro-developmental disorder that affects almost exclusively girls.
One of the features of the condition is that the child will develop normally up to the age of 20 to 30 months. This is followed by a period of regression, resulting in severe and multiple physical and intellectual disabilities.
“Nathalia was perfect at birth,” Joe told the Leinster Leader. “It was only after eight to nine months that the symptoms started to appear.”
Symptoms of Rett Syndrome can include loss of verbal skills and hand function, seizures, scoliosis and a disorganised breathing pattern, while some sufferers lose the ability to walk.
Nathalia is now 11 and, like most other girls around that age, she recently made her confirmation. However, she has to use a wheelchair and is unable communicate. This is difficult for any parent to face.
“Christmas time is the hardest,” said Joe. “She just sits there watching TV. She doesn’t seem to care about presents or anything.”
In 2002 Joe was one of the co-founders of the Rett Syndrome Association of Ireland. The charity works to raise the profile of the condition in Ireland and lends a helping hand to the families of people diagnosed with Rett’s by giving them information and support.
“There’s a lot of work that goes into it,” Joe explained. “We’re trying to raise awareness among health professionals and to help parents.”
Approximately one in 10,000 births develop Rett Syndrome, and, according to Joe, there are around 70 cases in Ireland known to the association. Because it so rare, many health professionals may be unfamiliar with it and Rett’s can sometimes be misdiagnosed as autism, cerebral palsy or a generalised developmental delay.
But knowledge of the condition is becoming more widespread.
In April the Rett Syndrome Association of Ireland received a massive boost when it was announced as an official GAA charity for 2012. “That’s a huge thing for us because it will help to raise awareness of it,” said Joe
As well as raising awareness, one of the main functions of the association is to support the families of Rett syndrome sufferers. “Every year we have a family day in October. We get experts over from abroad to talk to the parents and the children. This year we’ll have someone over from England. Our aim is to give the kids a better life.”
Rett Syndrome is caused by a random mutation or alteration of a gene on the X chromosome. It is usually spontaneous and rarely inherited. Though there is currently no known cure, Joe explained that several advances have been made and he believes finding a cure “can be done”.
Until that time, advances in assistive technology offer some relief to sufferers and to carers. But this is not always easily accessible.
“There is new technology called Eyegaze,” said Joe. “It allows people to communicate using their eyes. But it costs €20,000. Nathalia can’t talk or move her arms so she can’t communicate. The Eyegaze technology would be of huge benefit but it costs too much.”
Recently, cuts to services have taken their toll on what is available to families and carers. Useful learning treatments such as occupational and speech therapy are no longer as easily accessible as they once were.
“My daughter has been waiting two years for a back operation. She’s on the bottom of the waiting list because she’s disabled. This operation could save her life. We need access to hospitals and services. But people can’t cope with the cutbacks. They don’t make it easy.”
Therefore, now more than ever, families of Rett syndrome sufferers require all the assistance they can get. “The big thing is that families need support. Both parents need that help, not just the mothers.”
For more information visit the Rett Syndrome Association of Ireland website at www.rettsyndrome.ie.
The association also has a Facebook page at facebook.com/rettsyndromeireland.
- Liam Godinho