The Co. Kerry girl who suffers from a rare and fatal disease arrived in New York this week to begin a medical trial that may save her life.
Saoirse Heffernan, 5, accompanied by her mom, Mary, dad, Tony, grandmother, also Mary, and 2-year old brother, Liam (who also has the disease), was welcomed to New York by friends from Co. Kerry who will look after the family while Saoirse undergoes her treatment beginning next week.
Saoirse and her family received the news last week that she had been accepted as a candidate for the gene therapy trial at New York’s Cornell Hospital.
Saoirse, who lives in Keel, Co. Kerry, spent a week in New York last May undergoing various procedures to assess her strength for a Stage II trial.
Although her tests were favorable, Saoirse was put on a waiting list until last week.
“We received the news on Friday, exactly 52 weeks after Saoirse was diagnosed with Batten Disease,” Tony Heffernan told IrishCentral.com from Ireland last week.
“We were just overjoyed when we found out that Saoirse had been accepted but we are also apprehensive,” said Tony.
Although accepted on the trial, Saoirse will have to undergo a verification process when she arrives in the U.S.
“The verification process is to make sure she still meets the criteria for the trials,” explained Tony.
“We are very hopeful, but we don’t know what has happened on the inside of her skull so that will be determined when we get there.”
If all goes well during the verification process, Saoirse will have surgery on Tuesday, October 12.
She will be admitted into Cornell on Friday, October 8.
Saoirse and her two-year-old brother Liam suffer from Batten Disease, a regressive disorder of the brain that normally develops in childhood.
Early symptoms of the disorder usually appear between the ages four through 10, with gradual onset of vision problems, or seizures.
Saoirse was diagnosed when she was four, while Liam at just one and a half.
Over time, affected children suffer mental impairment, worsening seizures and progressive loss of sight, speech and motor skills.
Doctors in Ireland told the Heffernan family that Saoirse and Liam would eventually die from the disease. Not happy with the prognoses, Tony and Mary went in search of alternative treatments and found their answer at Cornell Hospital.
Saoirse’s surgery on October 12 is the first phase of an ongoing 5-year treatment plan.
The surgery will initially involve injecting a harmless gene-bearing virus into her brain.
It has been found in a previous trial to significantly slow the progression of the disease.
The Stage II trial is aimed at extending the life expectancy of those with the disease, and providing greater quality of life.
It is also an important step towards finding a cure.