A SIX-year-old Limerick girl who has battled illness since birth will be the belle of the ball on December 8 when she is presented with a national Children of Courage award.
Sophie Mulcahy from Rhebogue suffers from a rare condition called 1q43 Deletion and is one of only 40 known cases in the world.
Sophie spent the first six months of her life on a ventilator in Our Lady’s Children’s Hospital, Crumlin, and has already undergone six heart operations and other procedures.
The little girl has suffered numerous setbacks such as lung and kidney failure.
“We are over the moon and so proud of her,” said her father Liam this week after receiving news of her award.
“It is in recognition of what she has been through and the courage she has shown,” added the Kilmallock man.
Sophie will join seven other courageous children from across Ireland at the Gala Dream Ball and National Children of Courage awards in the Radisson Blu Hotel in Limerick.
The children, who have all shown extraordinary bravery despite their suffering, will receive the VIP treatment at the black tie event which is being organised by the Share a Dream Foundation and will be hosted by RTE presenters Miriam O’Callaghan and Will Leahy.
Until October of this year it had been thought that Sophie was suffering with a rare condition, Ohdo syndrome.
However, having undergone further tests in Manchester earlier this year it was established that she had a genetic condition called 1q43 Deletion.
“The doctor in Manchester has studied this for 14 years and she found the exact gene that would have caused Ohdo syndrome and basically Sophie didn’t have that,” said Liam, “but what she does have was a chromosome deletion.”
A 1q4 deletion means that the cells of the body have a small but variable amount of genetic material missing from one of their chromosomes – chromosome 1.
For healthy development, chromosomes should contain just the right amount of genetic material (DNA). Like most other chromosome disorders, having parts of chromosome 1 missing may increase the risk of birth defects, developmental delay and learning difficulties.
However, the problems vary and depend very much on what and how much genetic material is missing.
While Sophie is unable to talk, she has her own means of communication. She can stand while supported but cannot walk.
The six-year-old who is a student of St Gabriel’s in Dooradoyle will attend the awards ceremony with her parents Liam and Stacey and siblings Dion, 12 Kayla, 4,
“The last time Sophie was in hospital was last February which is very good,” said Liam. “We have seen massive progress. She still suffers from seizures but not as much.”
Following Sophie’s diagnosis, Liam and Stacey founded Cycle 4 Sick Children which has already built up a national following for its tireless fundraising efforts.