Girl, 7, diagnosed with rare and fatal illness after a routine eye exam

Children with Batten disease suffer seizures, vision loss, and difficulty moving and thinking

Maggie O'Neill
Wednesday 13 September 2023 00:19 BST
Understanding Motor Neurone Disease

A Texas elementary school student received a devastating health diagnosis after her school teachers thought she simply needed eyeglasses.

In March 2021, Isla Edwards, then seven years old, saw an optician after the school alerted her mother, Jacquelyn Stockade, that she should have her vision checked.

“At this time, there were no signs of anything being wrong with Isla,” Stockade, 34, told Newsweek. “Her vision was a little fuzzy at long distances, but nothing out of the ordinary for a kid who was on the borderline of needing glasses.

But upon examining her, the youngster’s optician explained she needed to see a specialist immediately and Ms Stockade drove her to Texas Children’s Hospital, 90 minutes away.

There, experts confirmed Edwards had paediatric macular degeneration and conducted a genetic test, by swabbing the inside of her mouth, to determine the cause.

Eventually, the family was told that their daughter had a fatal condition called Batten disease.

“On August 12, I was told that Isla’s genetic panel had come back positive for a diagnosis of neuronal ceroid lipofuscinoses,” she said. “Upon further explanation, we learned this disease is more commonly known as CLN3 juvenile Batten disease, a very rare, extremely devastating fatal illness with no treatment or cure.”

Batten disease is a group of 13 different fatal genetic disorders, per the Cleveland Clinic. They affect the body’s ability to rid itself of cellular waste, including proteins and lipids, and this waste eventually builds up in cells all over the body. As a result, children with Batten disease experience seizures, vision loss, difficulty moving and thinking, and death.

The condition Edwards has causes seizures, vision loss, and other debilitating symptoms.

Batten disease is very rare: It affects about three in every 100,000 people born in the United States, according to the Cleveland Clinic.

It’s more common in certain regions; in Northern Europe, about one in every 25,000 babies have the disease. It is an inherited condition, and siblings of children with the disorder have a 25 per cent chance of having it as well.

While there is no treatment for the illness, children with Batten disease often rely on a team of providers who address the many symptoms it causes.

They may prescribe medications that control seizures and physical and occupational therapy may also help some children retain their mobility for longer.

Stockade told Newsweek about the jarring diagnosis. “I was told that Isla would very soon lose her vision completely, develop childhood dementia and epilepsy, that her mental cognition would start declining, and that her physical abilities would also start to deteriorate,” she said.

“The life expectancy for a child with CLN3 was late teens to early twenties…There were simply no signs that she was anything other than a perfect, normal little girl.”

Isla Edwards was diagnosed with Batten disease after suffering from blurry vision.

She added that her family chose to keep the new information from Isla.

“I had to come home and sit with our family and tell them this news. It was a horrific time. We have never discussed any of this with Isla and still feel strongly that no child should have to carry the emotional weight of such a complex diagnosis.”

Eventually, Ms Stockade was told about a clinical trial that’s evaluating whether Miglustat, a drug that’s already approved for a condition called Gaucher’s disease, may help children with Batten disease as well.

However, the family worried she might be among the half of the trial participants who were given a placebo rather than the medication. In light of this, they decided to pay for the medication, which would cost $18,000 a month.

“We made the decision to share Isla’s story on social media after it became clear that we could not afford to provide her with necessary treatment without help,” Ms Stockade said. “Our community came together and raised funds to help us afford the [cost of] the medication.”

Fortunately, Isla has done well on the medication.

“Since starting [Miglustat], Isla’s eye deterioration has halted, which is a clear indicator that this medication is working to stop the progression of the disease,” she said.

This could mean that Isla may be the first child to go on to live a full life, free from childhood dementia, ataxia, physical and mental handicaps, and epilepsy.”

She said her daughter continues to swim, dance, and play video games, and that her family and care team are excited to continue watching her grow.

“We still have a long journey in front of us, but, as of right now, all her doctors are floored by her progress,” she added. “We couldn’t be prouder and more hopeful for her future.”

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