Strong Kids

Miracle Kids 2024: Maddilyn Wilber

May. 21, 2024
From a Devastating Diagnosis at Birth, to a Life Full of Laughter

For Adrianne and Brandon Wilber, the joy of welcoming their daughter, Maddilyn, was soon mixed with worry and uncertainty. It started the day after she was born in November 2019, when Maddilyn failed her newborn hearing test.

Sometimes newborns just have fluid in their ears, and a repeat test shows all is well. But when Maddilyn failed a second time, Adrianne and Brandon were concerned.

“I had a mother’s intuition that something wasn’t right,” Adrianne remembers.

A third, more precise evaluation called the Auditory Brainstem Response Test—which measures a baby’s brain waves in response to sound—confirmed that Maddilyn had profound hearing loss.

It was devastating news for the Wilbers and Maddilyn’s eight-year-old brother, Chase.


“At the beginning, it was very scary,” Brandon says.

“You think about things as a parent—like, I love music; will she ever be able to experience that with me? What about school? How do I tell her brother that your sister can’t hear you, and you’re going to have to learn another language? There are a lot of things we were very concerned about,” Adrianne adds.

As bad as things looked, there was even worse news to come.

Additional Risks—and an Important Decision

Following diagnosis of a hearing problem in infants, it’s common for providers to recommend genetic testing and a consultation with an ophthalmologist to see if there are issues with the eyes, since many disorders affect both.

The Wilbers were referred to Jenina Capasso and Lindsay Adamczak, genetic counselors at University of Rochester Medical Center. Capasso and Adamczak conducted an in-depth analysis of the health history in Adrianne and Brandon’s families and ran genetic tests on Adrianne and Brandon.

Their work revealed that Maddilyn has Usher Syndrome, a rare genetic disease that can cause deafness or hearing deficits at birth, and later in life, progressive loss of eyesight. The vision loss typically starts in the second or third decade of life and begins with loss of night vision, followed by peripheral (side) vision. Ultimately, the patient’s field of vision narrows until they have only central, or tunnel, vision. After this diagnosis, the Wilbers were referred to Dr. Alex Levin, an ophthalmologist and ocular genetics researcher.

Knowing that vision loss could impact Maddilyn’s ability to read lips and use American Sign Language to communicate, the Wilbers focused on giving their baby every option available to improve her hearing.

“The first step was to try hearing aids for Maddi, but they didn’t notice a difference with them. My husband and I were crying. Knowing your child can’t hear—it’s a grieving process,” says Adrianne.

The Wilbers reached out to Dr. John Faria, a pediatric ear, nose, and throat physician at Golisano Children’s Hospital. Faria treats a variety of childhood ENT conditions and performs most of the cochlear implant surgeries for children in Rochester and Buffalo.

Not all families choose to treat a child’s hearing loss, Faria notes.

“Rochester has one of largest culturally deaf communities in the nation; I see families that don’t see being deaf as a problem at all, and that’s totally fine. Other families consider it something they want to treat. Usually, the first thing I ask a family is, ‘How do you want your child to communicate?’”

For the Wilbers, Maddilyn’s potential vision loss was one factor in their decision to use technology to augment their daughter’s hearing. Another was the knowledge that if they waited too long, cochlear implants wouldn’t even be an option.

“The brain changes the way sound is processed if a child is not exposed to sound for a long time,” Faria says. In other words, there was a window of time in which Maddilyn could acquire the ability to understand and respond to spoken language.

 “We wanted to help her hear with implants, to learn English and be integrated in a general-education classroom with her hearing peers; then later on down the road, if she decides she wants to be completely deaf, she has that option,” said Adrianne.

Successful Surgery and Living Life to the Fullest

Maddilyn had an audiologist for the hearing aids trial and later switched to Megan Wightman, AuD, a senior audiologist with URMC’s Otolaryngology (ENT) Department, who works with cochlear implant patients.

Faria did the cochlear implant surgery when Maddilyn was one year old.

Cochlear implants include an internal processor surgically implanted behind each ear and an external processor that sits on the outside of the skull and is attached to the internal device via magnets. It communicates with the internal device so that electrical signals can stimulate the cochlea to receive sound.

Wightman worked with Maddilyn to adjust her implants and ensure she had access to all the sound they can deliver.

Success comes from “consistent use, speech, and language therapy,” Wightman says. “It’s a lot of work. Maddi’s parents were extraordinarily involved and have done a great job with her.”

On top of all that work for Maddilyn and her parents, the little girl faced other health setbacks. As an infant, she returned to the NICU for two days with jaundice. She had severe RSV at two months. Faria twice placed tubes in her ears for recurrent infections and removed her tonsils and adenoids because of frequent bouts of strep throat. Maddilyn now experiences headaches and is receiving treatment for them.

But the biggest challenge was her near-deafness and its effect on her language development.

“She went a year and three months before she could hear anything,” Adrianne says. “All that language and development she missed out on. She was seeing a teacher of the deaf and a speech therapist, Megan, and a social worker who was helping link her with services.”

When it came time for preschool, Maddilyn went into pre-K in a general-education room—having had an Individualized Education Program (IEP) developed—and never looked back.

“She has now made up for all of her language delay,” Adrianne says proudly. “She still sees a speech therapist and a teacher of the deaf regularly at school, and she is right on par with all her hearing classmates. She has not let any of this stop her.”

Even better, it hasn’t seemed to interfere with her being a happy, inquisitive, and outgoing child.

“She’s still a regular and crazy four-year-old!” Adrianne says. “She probably knows even a little above her age level because what she doesn’t know in speech, she knows in sign. If she’s not sure in words, she uses sign—it’s amazing.”

“It is really impressive because with cochlear implants, you would never know now that a child is deaf,” says Wightman. “Maddilyn is a little superstar with her implants.”

“She is sassy,” Adrianne says. “She is the embodiment of sassy, and she is a determined little thing. If she doesn’t want to do something, or if she does, you’re going to know about it, and you’re going to have a hard time stopping her!”

When it comes to a favorite hobby, Adrianne can’t narrow it to one.

“What doesn’t that kid like to do? My fear of her not being able to enjoy music? Right out the window. She likes to dance like no one is watching; she loves listening to music and singing, being outdoors. Her animals. Spending time with her brother and cousins. She likes roller skating and is very proud of herself that she wins the limbo every time.”

Cracking the Genetic Code

The technology that can provide hearing to a child born without it is a miracle. When it comes to Usher Syndrome, however, there’s another miracle in the works at URMC and other ocular-genetics research centers around the country.

“Maddilyn has an abnormality in the gene USH2A, the second-most common genetic disorder of the retina and most common cause of Usher syndrome,” Levin notes.

“The gene in question for Maddilyn is a very important one that tells the ear and the eye to work. And if that gene isn’t working, the product of that gene—the protein needed for proper ear and eye function—is not there to do its job.”

Up until now, patients with Usher Syndrome who experience vision loss could only receive help with, not a cure for, their vision symptoms. But, Levin says, “Thanks to the ocular genetics research under way today, including here at URMC, I would say the chance of this child losing her sight is almost zero. We and others are already working on treatments to deliver gene therapy to those with Usher Syndrome, and before Maddilyn even has a single symptom, it’s almost certain that gene therapy will be available to her.”

The first gene therapy in the human body was approved by the FDA in 2017 to treat an eye disorder—Leber Congenital Amaurosis—a type of hereditary retinal dystrophy caused by abnormalities in the RPE65 gene.

“There are now 16 sites in the United States that are allowed to administer that gene therapy, and URMC is one of them,” Levin says. “The treatment has restored sight for children legally blind at birth.”

This gene therapy uses the virus that causes the common cold to instead transport a functioning gene to the eye to treat retinal dystrophy. The USH2A gene is too large to fit into the cold virus, so an alternate carrier is still being developed, Levin explains.

“Once that is tackled, Maddilyn would be a great candidate. We’re doing research to hopefully start clinical trials for her gene in collaboration with the University of Iowa. When gene therapy is ready for her particular disease, we’ll provide the treatment right here for her, most likely before she ever experiences a visual symptom.”

Miracles on top of miracles—and one less thing Maddilyn will have to overcome. Now she can focus on that next limbo contest—and living her young life to the fullest.