Baylen's headaches were so debilitating, he often had to miss school. But soon after a routine back-to-school eye exam, Baylen was diagnosed with keratoconus, a rare eye disease that is often underdiagnosed.

By Samantha Lande
Baylen's school picture from 2018. PHOTO: Courtesy of the Guenther family

One of the most unnerving feelings as a parent is not being able to figure out what's making your kid sick. That was the experience for the Guenther family after their son Baylen started having severe headaches around age 11.

Focusing in school was nearly impossible and he'd often miss class in fifth grade because of how sick he was feeling. His parents would even have to transcribe Baylen's homework because he couldn't see the keyboard to type. Worried, his family tried to find answers, but doctors couldn’t diagnose the issue. And Baylen’s headaches just kept getting worse.

It wasn't until a routine back-to-school eye exam at their local Walmart in Nebraska that the Guenthers got a better answer. "As the optometrist was checking his eyes, he noticed that the cornea did not look right,” says Brian Guenther, Baylen's father.

The optometrist then referred the family to an ophthalmologist, a medical doctor who could hopefully diagnose and treat him. And days later the Guenthers nervously took Baylen to the specialist in Sioux Falls, South Dakota knowing not much other than the fact their son had an irregularity in his cornea.

An Unexpected Diagnosis

After the physician examined Baylen, he quickly diagnosed him with keratoconus, a rare progressive eye disease in which the typically round cornea begins to thin and bulge like a cone.

“This change in shape causes blurred and distorted vision. This can progress over time to more thinning, protrusion, clouding, and scarring that varies,” says Janice Lasky Zeid, M.D., a pediatric ophthalmologist at Lurie Children's Hospital in Chicago.

Baylen's headaches stemmed from his sight, something that took the family by surprise. "We had no idea that he had so many issues seeing," says Baylen's mom, Tiffany.

James Katz, M.D., an ophthalmologist at the Midwest Center for Sight in Des Plaines, Illinois, says this isn't uncommon. "When keratoconus is only in one eye it's often not noticed. But when it is, it's usually a change in vision that's noted,” says Dr. Katz. “Lots of people just complain of less crisp vision."

Baylen was lucky to get diagnosed when he did—keratoconus is often not diagnosed until the late teens or early twenties. The incidence of the disease is fairly low as well, with 1 in 2,000, getting a diagnosis. The cause of the disease is unknown, says Dr. Zeid, but it is believed to be genetic. Baylen’s three older brothers have not been diagnosed with the disease thus far.

"It wasn't great to hear your son has a disease but there's a sense of relief in having a plan to get this right and fix it for him," says Tiffany.

Baylen with his mom Tiffany. PHOTO: Courtesy of the Guenther family

Getting Treatment for Keratoconus

With a diagnosis in hand, it was time to figure out the course of treatment. Like many diseases, keratoconus has different stages as the thinning of the cornea can range from mild to severe. In mild cases, the course of treatment is often just glasses or contacts, but as the disease progresses to moderate or advanced, there are other recommended courses of treatment.

In Baylen's case, his doctor recommended a procedure called cross-linking, which is "generally the first line of treatment these days,” according to Dr. Katz, a cornea specialist who performs this procedure.

"It strengthens the cornea to slow down or halt the progression of the thinning and bulging of the cornea," says Dr. Katz. "We put drops of riboflavin, a B vitamin on the eye, and activate it with a UV light. It cross-links or strengthens the cornea to the point of slowing or halting the disease."

A Hopeful Future

Baylen was getting ready to head to seventh grade at the time he had his procedure done. The family was told that it would take a year to see if it was a success.

“When he did go back to school it was tough to do his homework and hard to see the keys on the computer," says Tiffany.

But the family now feels confident as Baylen's symptoms are subsiding. Gone are the days of needing to leave school with chronic migraines—he is now playing sports and has made the honor roll.

Baylen will be fitted with a hard contact to hold his cornea in place. It is likely the disease will progress into the other eye and he is being monitored every six months to make sure any changes are caught early.

Baylen, who just started 8th grade, and a classmate sitting at the lunch table. PHOTO: Courtesy of the Guenther family

The family's goal is to raise awareness for keratoconus, which is often underdiagnosed. Eye exams can make all the difference. Required eye exams for schools vary by state, but the American Academy of Ophthalmology (AAO) recommends infants and children be routinely screened for vision problems even without specific symptoms. These exams are even more urgent for kids with a family history of eye diseases.

A pediatrician, family physician, or other properly trained health care provider can perform the test. If any concerns arise, the patient would likely be referred to an ophthalmologist for a more comprehensive eye examination.

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