Irish child with killer brain disease denied life saving treatment in New York

Five-year-old Saoirse Heffernan from Co. Kerry has had her invitation to participate in a medical trial at Cornell University Hospital withdrawn after failing to meet surgical criteria -- but if the family can raise an additional $250,000 in the next few weeks she is guaranteed a place on a parallel trial at the end of the year.

Saoirse, who has a rare and fatal neurological disease called Late Infantile Batten Disease, flew from Ireland last week with her family to participate in a phase-one medical trial at Cornell that was believed to prolong if not save her life.

However, after undergoing a series of physical and neurological examinations at Cornell on Thursday, October 7, the news was bad.
Saoirse is no longer strong enough to participate in a scheduled surgery due to take place this week. The young Kerry girl had qualified for the trial last May but has since deteriorated.

Her parents Tony and Mary Heffernan were distraught by the bad news.

“We were beyond devastated to learn that Saoirse would not qualify for the trial,” Tony told the Irish Voice from New York on Monday.

“She narrowly missed the federal criteria that had to be met, and we had all our hopes pinned on the trial which were immediately shattered with the news.”

The Heffernans were informed by Dr. Ronald Crystal, a professor of medicine at Cornell Medical College who is regarded as one of the world’s leading authorities on Batten Disease, that Saoirse had progressed too far for the trial.

“Mary and I were all geared up for Saoirse to begin the trial so it was very upsetting, but I guess now we just have to get on with it and hope for the best,” said Tony, trying to remain optimistic.

However, Crystal offered alternative hope to the family, but at a cost.

The doctor told the Heffernans that Saoirse does meet the criteria for a parallel treatment trial due to start in November/December of this year.

“We’ve been given a glimmer of hope with this parallel trial, it’s the same treatment, the same guy carrying it out and in the same location. It will just be administered differently with less time in the theater,” explained Tony.

Although happy that their daughter has some hope, the family are now faced with trying to raise an additional $250,000 in a matter of weeks to pay for the phase two treatment trial.

In total the cost of the trial will be $750,000, $250,000 more than they had originally been advised. To date they have raised $500,000.

“If we don’t raise the rest of the money Saoirse will become another statistic, and we want to avoid that,” said Tony.

“We don’t want to lose our child to Batten Disease. It’s simply not an option.”

He added, “The $750,000 is only for the actual trial. We will need more if Saoirse has to spend extra nights in the hospital and things like that.”

Additional funding for travel and accommodation expenses are also needed.

The trial is scheduled to last for 18 months, all of which time Saoirse and her family will be based in New York.

Every penny of the money must be paid upfront before Saoirse can be guaranteed a place on the trial.

“It’s like this, as soon as we get all the money together, the sooner we can get back here and get Saoirse on her way to treatment,” said Tony.
“We will spend the next few weeks raising the money in some way or another to get Saoirse back here to New York.”

“I’ll go door to door if I have to for the next few weeks -- anything to save my daughter’s life,” he said.

Saoirse is currently the only child well enough to qualify for the parallel trial, and does not need to undergo anymore qualifying tests for participation.

“She is in once we can raise the money, and that needs to be done sooner rather than later,” he said.

Saoirse’s younger brother, Liam, two, will also be accepted for a trial beginning next summer.

Liam was also diagnosed with Batten Disease earlier this year, and although in great spirits at the moment he is deteriorating at a much more rapid rate than Saoirse did at his age.

Since Saoirse’s diagnosis last year, the Heffernans have spent every waking moment raising funds to pay for potential trials, and so far they have successfully secured $500,000, including the $120,000 raised by the Irish community in New York a few weeks ago.

The Heffernan’s founded the all-Ireland Batten Disease charity, Bee for Battens, in March to support sufferers, fund research and participation in medical treatment trials. The family is due back in Ireland on Wednesday, where they are scheduled to go straight to Temple Street Hospital.

“As soon as we get off the plane Saoirse will be admitted to Temple Street for a full head to toe checkup, and hopefully adjustments to her medication to help her through till November/December,” explained Tony.

There are less than a handful of sufferers in Ireland, with only 750-1,000 sufferers worldwide.

To date Late Infantile Batten Disease has always been fatal, and these trials are taking place to attempt to devise a cure. The Cornell trials have been a success so far.

Tony told the Irish Voice about twins from England who were both Batten sufferers. The little girl made the trial (the parents could only afford to send one child). She is still alive. Her twin brother died.

The charity’s website is www.beeforbattens.org.

Checks may also be sent to the Saoirse Foundation, the Kerry Hall, 305 McLean Avenue, Yonkers, New York, 10705.
Contact April Drew at [email protected] or 212-684-3366, ext. 116 with fundraising ideas.