Treatment offers hope but no promises for Fort McMurray boy with rare, incurable condition

About one month ago, Madden Stacey stopped walking. 

It’s a symptom of Batten disease, the rare, incurable condition that the four-year-old was diagnosed with in December. 

Now his parents have to help Madden walk or carry him. His vocabulary has also suffered, shrinking to about 20 words. 

Not that long ago Madden was dancing, walking and talking in his home in Fort McMurray.

“He’s my best friend in the whole world,” said Madden’s sister Jayda Stacey, 11. 

“I love him so much and I just want to find a cure for this awful disease so that he can be his normal, happy, smiling laughing boy.”

Parents Aaron and Heather Stacey say despite his diagnosis, Madden remains happy. (Jamie Malbeuf/CBC)

Batten disease, a genetic disorder affecting the nervous system, results in a deterioration of skills that will leave them blind, wheelchair bound and without cognitive function. Children have a greatly shortened life expectancy; depending on their form of the age and age at which it appears, they may not live past their teens, according to the National Institute of Neurological Disorders and Stroke.

Madden has CLN2, the only strain of Batten disease with a treatment. Patients with CLN2 are missing an enzyme which leads to brain damage.

For his treatment, Madden will get enzyme replacement therapy every two weeks administered through a port that has been implanted in his head. The treatment will slow his regression, but it will not cure the disease.

Batten disease happens when cells aren’t able to properly process materials, which leads to a buildup inside the cell, said Dr. Janette Mailo, a pediatric neurologist who works with Madden at Edmonton’s Stollery Children’s Hospital.  

The result is swollen nerve cells that stop working properly, she said.

Research that I’ve done shows that no child has lived past six to 12 years.– Aaron Stacey, Madden’s father

CLN2 is very uncommon, found in two and nine people per 10 million, Mailo said. She has only ever encountered one other case of it.

“It’s heartbreaking to see these families,” Mailo said. 

“The hope is that we will … slow down the progression and ideally he will gain some of his skills back.” 

But so few people have actually gone through this treatment that there’s not a lot of information about its effectiveness, she said.

“There’s definitely hope. It’s just very new. So we’re very careful with what we kind of promise.”

Mailo still remembers the first thing Madden’s dad Aaron Stacey ever said to her when he showed up at the hospital: “Now Madden has a team.”

Madden’s parents are fundraising to help pay for the trips to Edmonton and later hope to raise money for research leading to a cure. (Jamie Malbeuf/CBC)

Stacey said Madden grew up normally although looking back his son did develop a little late, which he later discovered is an early indicator of Batten disease.  

At three-and-a-half years, Madden had his first grand mal seizure. He was initially diagnosed with epilepsy but his parents took him back to the hospital in early December when he started to lose some of his skills. 

“Research that I’ve done shows that no child has lived past six to 12 years … which is very heartbreaking for a parent,” Stacey said. 

He’s currently on leave from work so he can take care of Madden and co-ordinate his medical treatments.

“I can’t think of anything worse than having to watch your child go through this and have no cure,” he said. “You’re basically minimized to managing symptoms.”

Madden is her best friend, Jayda says. (Jamie Malbeuf/CBC)

The family has already raised about $80,000 to help pay for the trips back and forth to the hospital in Edmonton.

That money will be used for gas, hotels, food and other expenses during the trips to the Alberta capital. They need to go back about every two weeks, and each trip costs about $500.

“As you can imagine, a situation like this is very stressful,” Stacey said. “We are so grateful for the help we’ve received.”

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