Outlook is bright for infantile nystagmus patient after trip from Down Under

2014-06-03 08:16:47 by Laurie Schueler, Media Relations Specialist, as posted on the inside.akronchildrens.org blog.

Nina and Steve traveled from Australia to Akron, Ohio, for treatment of their daughter's rare eye condition. Nina and Steve traveled from Australia to Akron, Ohio, for treatment of their daughter's rare eye condition.

After 5 years of trying to get pregnant, the birth of a beautiful girl last April was especially sweet for Nina and Steve. The first grandchild on both sides of their families, Ava quickly became a star.

When she turned 3 months old, her attentive parents began to notice a difference in her gaze. Although first-time parents, they knew the way her eyes tended to dart quickly back and forth wasn’t typical.

Soon after, during an appointment with a dermatologist to treat a birthmark, Ava was referred to a pediatric ophthalmologist in their hometown of Sydney, Australia.

Her ophthalmologist diagnosed Ava with infantile nystagmus syndrome, a rare eye condition that causes rapid, uncontrollable eye movements.

avaNystagmus often blurs vision and renders many of those affected legally blind. The doctor told them there was no treatment for it. He said all they could do was hope the condition improves with age.

“You never want your child to have any disadvantages in life,” said Nina, a public servant for the Australian government. “You never want your child singled out from the other kids or be given a label.”

Because of the rareness of the condition, looking for an ophthalmologist who specializes in treating nystagmus in Australia proved difficult.

In fact, the nearest eye movement recording machine used to diagnose the severity of the condition was an 8-hour drive away in Melbourne. They made the quickest appointment possible but it was still 4 months off.

In the meantime, Steve used his teacher skills and set about researching all there is to know about infantile nystagmus. He found a lot of useful information and support on the American Nystagmus Network, and it was there he first learned about Dr. Richard Hertle, a world-renowned pediatric ophthalmologist at Akron Children’s Hospital in Akron, Ohio.

“I was looking for information and I found the American Nystagmus Network online,” said Steve. “In post after post, it was always the same. Dr. Hertle’s name kept coming up in discussions - people praising his care with their kids.”

It’s not uncommon for Dr. Hertle’s patients to travel from afar to Akron Children’s vision center for treatment.

Dr. Hertle meets with the family before Ava's eye surgery. Dr. Hertle meets with the family before Ava's eye surgery.

Because he’s one of a few ophthalmologists in the world who provides a complete visual system evaluation, combined with medical, optical and surgical procedures that can improve nystagmus, Dr. Hertle sees about 15 nystagmus patients a week, with more than 90 percent coming from outside of Ohio.

Until he helped improve the surgical treatments for nystagmus, there were few medical treatments to reduce the abnormal eye wiggle.

“Grass roots organizations like the American Nystagmus Network are one of the greatest additions to modern medicine and a tremendously valuable contribution resulting from the Internet,” said Dr. Hertle.

Nina and Steve decided to make contact and sent an email to Dr. Hertle’s office to see how long it would take to make an appointment.

Dr. Hertle evaluates Ava before her nystagmus surgery. Dr. Hertle evaluates Ava before her nystagmus surgery.

Meanwhile, the ophthalmologist in Melbourne became ill and had to cancel Ava’s appointment. When Dr. Hertle’s office responded that they could be seen quickly, they made the appointment.

After talking it over with friends and family, Nina and Steve decided to have a consultation visit with Dr. Hertle to determine if a procedure was possible to help lessen the effects of the nystagmus while they had Ava here for the appointment.

“We talked to our parents, and we thought about it a lot,” said Steve. “It finally came down to this: How are we going to feel 10 years from now if we didn’t make the trip and get the procedure?”

The 45-minute surgery doesn’t cure nystagmus, but it alleviates much of the eye wiggle and head posturing patients adopt to help control their wandering gaze.

dad-mom-avaA steadier outlook on the world will help Ava continue to meet her developmental milestones. And when she reaches driving age, the surgery could mean the difference toward earning her driver’s license.

“While there is no cure for nystagmus,” said Dr. Hertle, “visual functions affected by nystagmus - including letter vision (acuity), contrast sensitivity, motion detection, depth perception, visual recognition time and gaze dependent vision - all improve when the nystagmus is treated.”


An improved outlook on life

“Ava's confidence levels have sky rocketed,” said Nina, a month after the procedure.  “There's no holding her back now! She is making great eye contact and she's able to stare for longer periods of time.”

Nina and Ava before the nystagmus surgery Nina and Ava before the nystagmus surgery

She adds that Ava no longer has a head tilt. While the movement in her eyes is still there, it has lessened considerably.

“She shows a lot more interest in interacting with other adults and kids,” Nina explained. “Ava is definitely noticing more fine details in books, at the park, on TV, and on clothes. She seems motivated to try new activities, like using the slide at the park and climbing rope ladders.”

Like many toddlers her age, Ava is extremely determined to try things herself.  “She'll continue to try until she's satisfied she's given it her all,” said Nina.

mom-and-ava-2With baby number 2 on the way, Nina and Steve are happy knowing they did everything they could, including flying halfway across the country, to help Ava reach her full potential.

“This family is representative of the new modern family insofar as they take the initiative in discovering what is available worldwide to assist with the care of their child,” said Dr. Hertle. “They don’t take statements such as ‘nothing can be done for your child’ as fact and go home.”


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