Maggie, pictured with her mom Christina, her younger sister Ellie, and her dad Pete.
Christina’s close friend has a little girl just an hour older than Maggie, and while she was singing songs, Maggie had only a handful of words.
“Maggie was very verbal, but it was just jibberish,” says Christina. “She should have had 50 words, but she had just four. I would say a sound to her and she would have a hard time repeating that exact sound.”
Her pediatrician referred Maggie to an audiologist near their home in Moorestown, NJ, where she was diagnosed with hearing loss. Most kids with hearing loss are diagnosed at birth, however, as Christina learned, despite failing the newborn hearing screen, a local ENT had erroneously given Maggie a clean bill of health.
Seeking expert evaluation and care for Maggie
Confronted with such a late diagnosis, Christina immediately called The Children’s Hospital of Philadelphia where Maggie was evaluated at the Center for Childhood Communication and the diagnosis was confirmed. Maggie had moderate bilateral sensorineural hearing loss — hearing loss in both ears.
“We haven’t gone outside of CHOP since then,” says Christina.
The family met with an audiologist who discussed options for hearing aids. The family also learned that hearing loss can be associated with more than 300 genetic syndromes.
After being evaluated by multiple specialists to rule out each syndrome, Maggie was diagnosed with enlarged vestibular aqueduct syndrome (EVAS), a malformation of the inner ear that is present at birth. Children with EVAS have a higher chance of progressive hearing loss, or of losing their hearing in the affected ear(s) altogether.
The family was connected to CATIPIHLER (CHOP’s Assessment and Treatment Implementation Program for Infants and Toddlers with Hearing Loss–Enhancing Rehabilitation) and attended the program’s annual parent conference, where they attended lectures on supporting their child with hearing loss.
They were also introduced to the Clarke Schools for Hearing and Speech, which provide children who are deaf and hard of hearing with listening, learning and spoken language skills. Despite the nearest school being over an hour’s drive from their home, and the addition of a new baby, Maggie's family enrolled her at Clarke at the age of 2.
A team approach for caring for Maggie now and in the future
The family now has quarterly appointments at CHOP for hearing checks with their audiologist Amanda Marchegiani, AuD, PASC, but they find themselves there most every month.
“It is a second home,” says Christina. “We are either there to replace Maggie’s molds as she grows, to update equipment, or to problem solve with Amanda, our audiologist.”
With each visit, they keep their fingers crossed that there has been no change in Maggie’s hearing. But Ken Kazahaya, MD, medical director of CHOP’s Pediatric Cochlear Implant Program, has reassured the family that if Maggie does lose her hearing, there are ready solutions.
“He’s a straight shooter, which I really appreciate,” Christina says. “No one wants to hear that things could get worse, but he is quick to follow with what we will do if that happens. With Amanda and Ken, it’s truly a team approach. They don’t just treat Maggie. They work hard to get us the tools she needs to succeed and spend a lot of time educating us so we know what’s going on and are part of the team.”
Now 4, Maggie is attending a local preschool and goes to the Clarke School one session a week for speech. She speaks beautifully, and her mom says if you met her, you wouldn’t know she has hearing loss.
“It was traumatic when it first happened and the first year we were pretty much on edge, but now it’s just a part of our lives,” Christina says. “Every time we visit CHOP, I comment on how fortunate we are to have their support. I can’t say enough about the experiences we’ve had there.”
Originally posted: January 2014