Lisa shares her story as Rare Disease Day approaches

By Tamara O’Connell

A DUNDAlK woman whose daughter has been diagnosed with a rare disease has spoken about the importance of marking World Rare Disease Day.

lisaMarie Hodgins, aged 41, from the Castletown Road has three children; Seanadh (13), Keelyrose, aged nine, and Riain, aged five.

“When Seanadh was born on the 30th April 2009 I had no idea anything was wrong. When she was six months old she did a hearing test with the public nurse,” said lisaMarie.

“The health nurse was alarmed at the results. She organised an MRI when she was nine months old and she was just over a year old when she was diagnosed with a syndrome.

“She was diagnosed with 3p25 deletion syndrome. I was just 27-years-old at the time and walking blind.” lisaMarie added: “The first thing I did was I googled the syn- drome, which I shouldn’t have done as the results said that most kids diagnosed with this condition didn’t live past the age of three.”

Rare Ireland helps families with genetic counselling and subsidised therapies. Chromosome 3p syndrome is a rare chromosome abnormality that occurs when there is a missing copy of the genetic material located towards the end of the short arm (p) of chromosome 3.

“The charity, Rare Ireland Support Net- work, is a lifeline. There are only about six children in the whole of the Republic with 3p syndrome,” said lisaMarie.

“A lot of children have heart problems and kidney problems. She never got epilepsy but she does have really low muscle tone.

“She’s in a wheelchair and has a hearing aid. Her eyesight is quite bad even with glasses. She didn’t start speaking until she was seven years old.”

She continued: “Her jaw didn’t develop properly and she has Autism and ADHD but she is quite happy in her world.

“Rare Ireland and Family Carers Ireland have been good in terms of support. We’re not alone.

“I’ve got two girls with special needs but they go swimming and to the Cooley Kickhams All Stars every Saturday. It’s starting up again in the spring and they go to yoga through SNAP.”

Rare Disease Day is due to take place on February 28. Rare Ireland Family Support Network support over 1,600 children and young adults living with a rare condition in Ireland. These children and young adults have very serious, often lifethreatening conditions.

“We are the only charity in Ireland set up to specifically help parents of children/adults living with a rare disease in Ireland,” said a

Rare Ireland spokesperson.

“We would like to raise awareness of our charity and let people know how we can help them.

“We are a volunteerled charity and we subsidise genetics counselling, speech therapy, Occupational therapy, Equine therapy, hospital gift boxes and more.”

The spokesperson added: “We have some upcoming events planned to celebrate Rare Disease Day, such as a sponsored swim in the sea in Waterford and Dublin, a nationwide chain of lights where buildings are lighting up, coffee mornings and more.”