After both their children were diagnosed with a fatal disease, a husband and wife living in County Kerry, have begun fundraising to bring their babies to the U.S. for clinical trials that just may save their lives.
“If we don’t do this our children will die,” Tony Heffernan told the Irish Voice from his home in Keel, Co. Kerry on Monday.
Heffernan, 38, is the proud father of 4-year-old Saoirse and 22-month-old Liam.
Both children have a rare disease called Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL), or Batten’s Disease, that will eventually end their lives if a cure isn’t found.
Heffernan and his wife Mary, 34, were elated when their first child was born. Saoirse was the light in their day.
While Heffernan, a ships captain by trade who currently works with Hoegh shipping enterprise, and his wife, a stay at home mom, were enjoying the endless pleasures that came with having a daughter, they became worried in January 2009 when Saoirse started having seizures.
Doctors put it down to epilepsy. All the symptoms pointed in that direction.
However, Saoirse’s seizures became more aggressive, finally resulting in her suffering up to 200 a day. A trip to specialists in Dublin was a must.
“We were referred to Temple Street Hospital in Dublin last March. We just couldn’t control the seizures. They got progressively worse and worse,” recalls Heffernan.
Endless tests still reveled epilepsy. The Heffernans were satisfied and Saoirse began a course of treatments to help her little body deal with it. In August she was called for an MRI in Dublin.
“Doctors told us if anything serious showed up in the MRI that they would call us immediately. If not they said it would be two to three weeks before we heard anything and they would contact our doctor here in Kerry directly,” explains Heffernan.
As the phone was silent for three weeks, the Heffernan’s were satisfied the diagnosis was still epilepsy.
However their lives were about to be turned upside down the weekend of the All-Ireland football final.
“We were all getting excited for the big game, I’m from Cork and Mary is from Kerry so as you can imagine the jokes were flying,” remembers Heffernan.
Then came the call.
The Friday before the football final, September 25, the hospital in Dublin called to say it was imperative for Saoirse and her parents to be in Dublin Monday morning for further testing and a proper diagnosis.
“As Kerry was playing Cork in Croke Park we were checking into a hotel in Dublin waiting for our appointment on Monday with our daughter,” he said.
The following morning the Heffernans were asked to bring Saoirse to Beaumont Hospital, an academic teaching hospital in Dublin city, to meet with a group of Irish neurologists who were visiting that day.
“They said they wanted a fresh pair of eyes to look at Saoirse. I never expected the outcome,” said Heffernan sadly.
During the consultation with the neurologists, Heffernan overheard the doctor’s conversations.
“I heard one doctor mention Saoirse’s name and this thing called Batten’s Disease in the same sentence,” he said.
Not familiar with the term, Heffernan began to Google its meaning. His heart began to rip from his chest slowly as he read what was before him.
Batten’s Disease is a rare neurological disorder that begins in childhood. It is always fatal.
“Less than four hours after I heard that doctor say Batten’s Disease we were back in Temple Street Hospital and the news wasn’t good,” Heffernan said.
The Heffernans worst nightmares became a reality.
“I was the first to break down and then when Mary saw me she knew what it meant,” said Heffernan. “When I asked was it fatal they said it was.”
Saoirse was kept in hospital another 10 days but the results were still the same. Nothing could be done.
A return visit in December to determine her life expectancy brought even more heartbreaking news.
“They gave Saoirse two to three years but they said she wouldn’t see double digits,” Heffernan sadly shared.
Losing their child wasn’t an option. Immediately after diagnosis, Heffernan began searching for cures or programs worldwide that could give his little girl a chance in life.
“If we don’t do anything our children will die,” he said
While the Heffernans were frantically trying to find help for their eldest child, another blow came their way last month.
Airing on the side of precaution, they decided to get their youngest, Liam, tested for Batten’s Disease.
“He was showing no symptoms at all aside from a little delayed speech so we really didn’t think he would also have it, “ said Heffernan.
Unfortunately on March 2, Liam too was confirmed to have the fatal disease.
During his research, Heffernan happened across a Batten’s Disease trial in Weill Medical College of Cornell University in upstate New York that gave him hope for his two children.
In 2004 a clinical trail was launched at Cornell to study a gene therapy method for treatment of the signs and symptoms of Batten’s Disease. An experimental drug works by delivering a gene transfer to the brain. In 2008 the procedure was deemed safe.
The Cornell trial is to begin at the end of the year. According to Heffernan, they usually only accept eight to 10 children.
Both Saoirse and Liam are registered for the trial, but neither has been confirmed and won’t be for another few months.
“The children have to be very strong for this trial, and thankfully Liam is at the minute, and although Saoirse is not so strong she is a real little fighter and we hope she will make it onto the program too,” he said.
According to Heffernan, there are only three children in Ireland alive with Batten’s Disease.
“That’s our two plus one other child. I’ve already been in contact with at least six parents who have buried their children from this,” he said agonizingly. “We don’t want this to be us too.”
Now the Heffernans are putting all their focus into raising as much money as possible to get their children to the U.S.
“It costs about $500,000 for each child to attend the trials,” he said. “We’re not even one-tenth there for one child but we will keep going.”
“People have been fantastic here in Ireland, especially in Cork and Kerry holding several fundraisers raising great money,” added Heffernan.
Heffernan also praises Billy O’Sullivan from the Kerrymen’s Association in New York who contacted the family to offer their support.
“We are not accepting death. We are going to push hard to do this for our children. We have to it’s as simple as that,” he said.
In the meantime the Heffernans are doing their best to give their children a normal life. Although Saoirse can’t go outside much -- problems with her eyes makes her sensitive to light -- the family work and play close together and try to maintain as much normality and stability as they can.
In their spare time, the Heffernans have set up a charity called the Saoirse Foundation to help raise the necessary funds to get their children to the clinical trials.
For more information on Batten’s Disease and how to donate money log onto www.beeforbattens.org.
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