The Search for Answers

The Search for Answers: CLN5 Subtype of Batten and Diagnosing Genetic Rare Disease

Austin entered the world as a happy and healthy baby boy. His mother, Wendy, recalls her excitement when she observed her son surpassing physical milestones earlier than other children his age. For a while, Austin was simply an energetic infant. But when he turned 2 years old, Wendy began noticing some behavioral problems, specifically that his restlessness became excessive.

Wendy took Austin to a doctor to determine the cause of his irritability. The doctor diagnosed him with ADHD. When Austin’s behavioral issues got more severe, Wendy continued her pursuit for answers with another doctor, a specialist in pediatric behavioral issues. Another misdiagnosis followed – this time high-functioning autism. “I didn’t notice any initial signs and symptoms because I was unsure of what I was looking for, and he kept getting misdiagnosed,” she says.

I didn’t notice any initial signs and symptoms because I was unsure of what I was looking for, and he kept getting misdiagnosed. – Wendy

Wendy had a gut feeling that something deeper was going on with her son.

Frustrated by the lack of answers, Wendy turned to online research. “I was constantly on the computer looking things up, saving links, writing things down,” Wendy recalls.

The information she found online was compelling enough for her to schedule an appointment with a geneticist.

After running the only available genetic test, the geneticist came up without answers. It would be years before Austin would get the genetic testing needed for a diagnosis. Wendy had noticed something else quite specific in the meantime: Austin’s pupils were always twice the size of hers. Upon hearing this, the geneticist referred Wendy to a neurologist.

Austin was then six years old, and his symptoms were progressing quickly. He was experiencing coordination problems, as well as vision issues, although he had been to an eye doctor numerous times to no avail. “Austin’s perception was off,” recalls Wendy. “Sometimes he would run into a doorframe or put his foot down to search before stepping down a stair.”

Wendy noticed that her son’s coordination was deteriorating as well. “When he was on an uneven surface, he would have trouble walking,” she says. “Walking up and down hills, or going from sidewalk to grass, got increasingly difficult for him.”

Austin’s teachers expressed concern around his learning retention, citing that he only absorbed a fraction of what he was taught. Wendy had also noticed that Austin was beginning to “space out” more frequently. Looking back, Wendy was unaware that these were seizures.

When Austin turned seven years old, Wendy visited yet another neurologist in search of a definitive answer. This neurologist listened to her experience and heard her worries; it was the turning point. Based on the symptoms Wendy described, the neurologist speculated that Austin had been having silent seizures (seizures that involve brief, sudden lapses in attention) for at least two years.

Despite discussing disease management options for Austin’s seizures, Austin’s disease progression continued. Wendy and her son went back for more genetic tests, this time testing for various genetic diseasesA disorder in a person’s structural and functional state that is caused by a change, or variant, in an individual’s DNA sequence. This variant may or may not be hereditary., including Batten diseaseBatten disease is the common name for a broad class of rare, inherited disorders or diseases of the nervous system also known as neuronal ceroid lipofuscinoses, or NCLs. In these diseases, a defect in a specific gene triggers a cascade of problems that interferes with a cell’s ability to recycle certain molecules. The disease has several forms that share some of the same features and symptoms but vary in severity and age when symptoms first begin to appear. Each form is caused by a variant in a different gene. Although “Batten disease” originally referred specifically to the juvenile-onset form of NCL, the term Batten disease is increasingly used to describe all forms of NCL. The disease ultimately leads to shortened lifespan.. The tests initially came back negative because the physician only tested for the forms of Batten disease better understood at the time.

At age nine, Austin was diagnosed with his specific type of Batten disease, CLN5. Wendy remembers a desperate search for resources. “Back when Austin was diagnosed, there wasn’t much information about CLN5. Even today, much of the information is difficult to read.”

Instead, Wendy found hope through her connections with other families going through a similar journey. “I’ve learned most of what I know by talking to other parents and living through it,” she says.

“I’ve learned most of what I know by talking to other parents and living through it.” – Wendy

Today, Austin is 18 years old. He no longer walks, and he now requires a feeding tube. The support from fellow CLN5 families and the third neurologist who listened to Wendy led her to the answers she had been chasing for years.