We're just cherishing every moment with her

MY HEALTH EXPERINCE: TONY HEFFERNAN

THE FIRST time Saoirse, now aged four, ever had a seizure was on January 27th, 2009. Up until then, she seemed to be a perfectly healthy child. She reached every milestone on time, apart from some speech delay.

Over the next couple of months, she had another few seizures and after further investigation, she was diagnosed with epilepsy and started on a number of different medications to try to control her condition.

However, her seizures got progressively worse until she was having more than 200 a day – they stopped counting at Tralee General Hospital when she got to 200.

After a Cat scan ruled out a tumour, Saoirse was admitted to Temple Street Children’s Hospital for an MRI. A few weeks later, we got a call to say the MRI had found an abnormality. The cerebellum in her brain was significantly smaller than it should be.

She spent 10 days in Temple Street undergoing extensive tests and was finally diagnosed with Battens disease on September 25th last.

When the consultant gave us the diagnosis, the first thing my wife Mary asked was, “Is it fatal?” His reply was, “I’m afraid the prognosis is very poor.”

We were knocked for six. What can you do when you’re told your little daughter is going to die and she’s sitting up in the bed beside you?

We were given no hope, there was no cure for this disease and nothing could be done for Saoirse, but that was not good enough for us, so we went searching on the internet.

Our children are the only two known cases of late infantile Battens disease in the Republic, and there is one little girl, Rhiannon Bates in the North, who has it for six years.

Through Rhiannon’s mother, we found out about a couple of trials coming up, including a second generation human medical trial starting at the Weill Cornell University Hospital in New York.

I got all the details of the gene transfer trial from the hospital and we got Saoirse’s application in before the end of last year.

In the meantime, we decided to set up our own Battens charity in Ireland, Bee for Battens, to raise funds for our children and other Irish children to take part in these potentially life-saving trials.

Following recent medical examinations and testing, Saoirse’s results have been well received by the medical team at Cornell, and she was invited to take part in the trial which is due to begin later this year.

In January, Saoirse went on a Make a Wish trip to Disneyland which was a fantastic experience.

When we came home, she had deteriorated quite a bit and she really worried us. She was admitted to Tralee General on January 11th and stayed there for more than a month.

During that time, she was sent to Cork University Hospital and started on tube feeding. She weighed less than 19kgs and is very tall for her age, she looks like a six year old.

Then she started suffering a new type of seizure called a brain stem seizure, which was very worrying. We came close to losing her but she battled on, she’s a great little fighter.

The seizures left her in a coma-like state and our doctor told us that she could get one seizure large enough to take her life. She could go to sleep and wake up in heaven, he said.

So that’s how we are living at the moment, just cherishing every moment with her. She requires 24-hour care now, but she’s a great character, a little sweetheart.

We pushed to get her little brother Liam tested for Battens disease and he was diagnosed on March 2nd of this year. We were absolutely convinced he did not have it and just wanted peace of mind. His diagnosis was a double kick – you couldn’t write it.

Liam is flying it at the moment, he’s just like any other toddler, apart from a bit of speech delay. He has also been registered for the medical trial in New York and is regarded as the Holy Grail of candidates because he’s pre-symptomatic, which is very rare.

We are going to New York for five days of baseline assessment on Saoirse before she goes into full trial and surgery. The surgeons will have to drill eight holes in her skull and inject stem cells containing the protein TTP1 into pockets of her brain through gene vector transfer.

I am fortunate enough to work for a Norwegian shipping company which is very family-centred and has been incredibly understanding about our situation. I have worked only 24 weeks since I started with the company in January 2009, but have been paid for the entire time. It means we can pay the mortgage, which helps. Our hope is that in the future, the company will allow me to work from home.

There is no funding available for this trial through the HSE, but it is providing us with support in other areas. We can’t wait around for anybody, we don’t have time.

We have started a massive fundraising campaign and raised more than €150,000 in the first six weeks. We hope to get a big sponsor to come on board as well.

People ask us how do we cope, but we have no choice. We are not particularly brave or anything special.

We just want to hold onto our little girl and will do anything we can to do that.

In conversation with MICHELLE MCDONAGH

BATTENS DISEASE: WHAT IS IT?

Battens disease (neuronal ceroid lipofuscinoses) is an inherited disorder of the nervous system that usually manifests itself in childhood.

Early symptoms normally appear in childhood when parents or doctors may notice a child begin to develop vision problems or seizures.

In some cases, the early signs are subtle, taking the form of personality and behaviour changes, delayed speech, slow learning, clumsiness or stumbling.

Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Children become totally disabled and eventually die.

Battens disease is not contagious nor, at this time, preventable. To date it has always been fatal.

The main types of Battens disease are infantile, late infantile, juvenile and adult NCL.

There are approximately 750-1,000 sufferers of late infantile Battens disease worldwide, with only three cases on the island of Ireland. The third sufferer, Rhiannon Bates (9), from Derry, is the lone child of Alan and Shauna Bates, who joined Tony and Mary Heffernan as co-founders of a new all-Ireland Battens disease charity.

The Heffernans have launched a new website, beeforbattens.org to accept donations and to increase awareness of the disease.