Lauren’s video role raises awareness of rare diseases

An eight-year-old Irish girl with an uncommon debilitating condition is featured in a Europe-wide promotional video for Rare Disease Day, released today.

Lauren Shaw from Dublin was four when she was diagnosed with Friedreich’s Ataxia but had been showing signs of the disorder from the age of two.

As a toddler she was very unsteady on her feet, could not feed herself and was not reaching milestones expected for her age.

Staff at a playschool she attended encouraged Lauren’s mum Sue to get her checked out and after physiotherapy and other treatments for a variety of suspected conditions, a neurologist made the diagnosis.

Lauren’s case is unusual because Friedreich’s Ataxia, a progressive disorder of the central nervous system, usually manifests itself in children between the ages of six and 16 years.

Lauren now uses a wheelchair when she is outside her home because her balance and co-ordination are very poor. “It’s as if she wants to go one way and her body just goes the other,” said her mother.

Her school has arranged for an assistant in the classroom but Lauren is still awaiting a computer because she cannot write or do most of her homework.

“The economic situation in Ireland means that the waiting time for any kind of assistance can be long, but the biggest challenge faced by Lauren and those like her is social acceptance,” said Sue.

People tend to see the condition and not the person. “Although she has physical challenges, in every other way she is like any other girl her age,” she said. “Like any other eight-year-old, she likes to assert her independence when she can and tries her best to stay out of the chair at home.”

Lauren is one of six Irish participants featured in the promotional video produced by Eurordis in Dublin, and was thrilled to be asked to take part.

“She thinks she is going to be famous now,” said Sue, who was glad that she was able to help spread the word about rare conditions.

“I hope that it helps people everywhere to see that you can have a condition but still be a normal person,” she said.

All of the video participants were contacted by the patient-driven Genetic and Rare Disorders Organisation (GRDO), a national alliance for voluntary groups.

GRDO is a member of the National Rare Diseases Taskforce helping the Department of Health develop a national plan for rare diseases, expected to be published next year.

There are more than 270,000 people in Ireland with a rare disease and together they make up to 8% of the population.

* Rare Disease Day is on February 29.



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