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Boy’s brave battle sharpens focus on funding for Batten disease treatment

Boy’s brave battle sharpens focus on funding for Batten disease treatment

Updated

July 08, 2018 13:58:52

As Tom Strahan runs after his big brother Jack, he shows the same desperation to keep up that any little brother has, but his legs hit the ground with slightly more caution than most.

The five-year-old makes himself heard with his tiny voice, yelling ‘train’ whenever one comes rattling past his local playground.

But, medically speaking, he shouldn’t be able to do any of these things.

That’s what his parents were told two years ago, when given the devastating news that their happy and seemingly healthy three-year-old had Batten disease — a fatal neurological disorder, with no known cure.

In February 2016, Tom had his first seizure, which lasted for 30 minutes.

“I thought he’d had a stroke because he was still standing, he couldn’t see me but his eyes were looking around … he had an ice-cream in his hand,” Tom’s mother Kate Beattie said.

“That moment, that’s when we realised that something really was seriously wrong — we didn’t know what the future was going to hold,” Tom’s father Anthony said.

Other than a slight speech delay, this seizure was the first sign anything was wrong with their otherwise healthy boy.

Kate and Anthony were told not to worry, that many children had seizures, and hopefully it would never happen again.

But over the following weeks and months Tom did have more seizures — about one every nine days.

Four months after that first seizure, Tom’s parents were called into Melbourne’s Royal Children’s Hospital, where they were given the bad news.

Tom had neuronal ceroid lipofuscinosis type 2 (CLN2) or late infantile Batten disease, a degenerative neurological disorder which robs children of their motor skills, speech, sight and ability to eat.

Kate and Anthony were told children who have CLN2 will die between the ages of six and 12.

“Nothing … can really prepare you for the sort of news that was broken to us in that meeting,” Anthony said.

“At that stage the news was there’s nothing you can do, it’s just going to be a case of watching him deteriorate.”

“We were told there was no hope,” Kate said.

A miracle in Rome

Late infantile Batten disease is caused by the lack of the TPP1 enzyme in the brain.

It’s incredibly rare and according to the Batten Disease Support and Research Association about 35 children have some form of Batten disease in Australia — eight of which have CLN2.

In the days and weeks after his diagnosis, Kate researched the disease extensively and found news of a new treatment for CLN2 that was having remarkable results.

Clinical trials of a drug called Cerliponase Alfa, or Brineura, had been underway in the US, England and Europe and 20 more places in the trial were being opened up.

Tom’s neurologist, Professor Ingrid Scheffer, put the family in touch with the lead investigator of one of the trials happening in Rome, Italy.

“I was very concerned that we weren’t going to go chasing rainbows,” Anthony said.

“I wanted some assurance that it really was a good idea and it wasn’t just the sort of thing desperate people might do.”

They spoke with the lead investigator over Skype and at the end of the call were convinced Tom should take part.

Within weeks, Anthony and Kate quit their jobs as barristers in Melbourne, took their older son out of prep and boarded a flight to Rome.

“It gave us some hope … it was the only thing that was showing promise in slowing progression — halting in some cases — of the disease,” Kate said.

“When we worked out there was something that could be done … it gave us an enormous impetus and lift of spirits to think ‘right, we can do something here’,” Anthony said.

The family worked to establish their lives in Italy and find schools for their two boys, but Tom was getting sicker.

Between their arrival in August and the start of the trial in October, Tom started having myoclonic jerks — about 20-30 a day — which would throw him off his feet.

They had lost the medical team and support network they had in Australia and had to navigate hospitals and a health system that operated in a foreign language.

“[It] was just unbelievably difficult to be handing over your son for brain surgery in a hospital where you don’t speak the language, where you can’t really work out what’s going on — they were very tough times,” Anthony said.

‘Life-saving’ drug stabilises disease

As part of the trial, Tom had a reservoir implanted under his scalp, with a catheter running straight into his brain.

Every fortnight, the Brineura drug is injected into the reservoir over a period of four hours, replacing the enzyme that children with CLN2 are missing.

The effect on Tom has been remarkable.

“The myoclonic jerks they’ve gone away … he hasn’t deteriorated in the way we were told to expect,” Kate said.

“We were told that by five-and-half he wouldn’t walk, he wouldn’t communicate, he wouldn’t eat — he’s doing all of those things.

“If anything we feel like he’s making small gains.”

Professor Scheffer said the drug was the first to offer hope to families of children like Tom.

“It’s lifesaving, without a doubt,” she said.

“The fact that Tom has stabilised is remarkable, and very exciting and hopefully it will continue to save his life.

“It’s still early days, we’ve only had the one lot of data on 24 children with this disease, so we really don’t know the long-term outcome.”

A study published earlier this year in the New England Journal of Medicine found that children with CLN2 treated with Brineura showed less decline in function than historical controls.

For some, medication is too late

To see a boy like Tom running around, talking and playing gives Peta Murchison a huge feeling of relief.

For the past five years, she and her husband Hamish have had to watch their daughter Mia lose all her abilities.

The eight-year-old is unable to talk, walk or see and is fed through a tube.

“Right now she has medication constantly throughout the day … she can’t move independently in any way to hold her head up so she spends a lot of time either in a bed or in a wheelchair and she relies on her family for all her needs,” Peta said.

For Mia, Brineura came too late. Her parents have worked to give her the best life they can, knowing their little girl will die far too soon.

“It’s a process of grief really that starts while your child is still alive — as soon as you know that she’s not going to be around forever you start grieving that loss,” Hamish said.

“That’s pretty challenging to do when life continues with two young children and being a young family.

“She has deeply changed our family and our extended family and our community, I think the impact of her life on all of us is quite amazing.”

Peta and Hamish have worked to raise awareness of Batten disease through their campaign, Bounce4Batten.

They ask people to share photos and videos of their families jumping and bouncing.

“Every single post makes us smile and they’re children out there enjoying their life and saying we’re doing this because we know kids that can’t jump,” Peta said.

The couple has also been behind a letter-writing campaign to get Brineura funded on the Pharmaceutical Benefits Scheme.

On Friday, the Pharmaceutical Benefits Advisory Committee (PBAC) started its assessment of Brineura and whether it should be funded on the PBS or referred to the Life Saving Drugs Program.

“What needs to happen is for this treatment to be approved by PBAC as quickly as possible because we know that there will be a child diagnosed in the not-too-distant future and it is absolutely critical that that child has access to this treatment as soon as they’re diagnosed,” Hamish said.

“Seeing other children doing well on the treatment for me is a relief, there’s no-one I would ever want to go through what Mia and our family go through,” Peta added.

‘We’ve done everything we can’

For the Strahan family it would be a devastating blow for the drug to miss out on funding.

While Tom is able to continue receiving it because he was part of a clinical trial, they can’t fathom the prospect of other families being told there is a treatment out there that they can’t access.

Tom is doing well now and they hope that continues, but the future is uncertain.

“Tom’s brought an incredible amount to our lives and we expect he’s going to keep doing that,” Anthony said.

“At some stage we might have to face choppy water and difficult times again but we will face them knowing we’ve done everything we can for Tom, and in the hope that his experience will bring this treatment to Australia for other children, so that every kid who gets this terrible problem gets the best life they can possibly have.”

Topics:

medical-research,

child-health-and-behaviour,

children,

neuroscience,

brain-and-nervous-system,

health,

doctors-and-medical-professionals,

government-and-politics,

melbourne-3000,

sydney-2000,

italy

First posted

July 08, 2018 08:38:50

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