Shock and Then Purpose

A family is transformed following an unexpected diagnosis.

By Berta Adell and Arnau Espinosa

With one of her cochlear implants just visible, Bruna appears on the cover the Summer 2024 issue of Hearing Health.

Bruna was born in Geneva, Switzerland, in October 2020. Those first days were very intense and, inside the whirlpool of being new parents, still at the hospital, a nurse performing a hearing screening on Bruna kept saying “it is not going through” every time she stopped by our room to perform it. Our daughter’s hearing did not respond.

However, no one seemed bothered by it. Babies may still have amniotic fluid inside their ears, there was no risk of a virus, and no family history of hearing issues. Bruna had tiny ears and the device they were using for the test did not even fit inside them.

A few months later, Bruna had a test of her auditory evoked potentials (AEPs), which uses discs loosely placed on the scalp to record electrical responses of the brain to auditory stimuli. It’s often used on infants who otherwise cannot indicate they’ve heard a sound.

It was on that day, two hours after performing the test, when we were told that our daughter did not hear any high pitched sounds. There was no response of Bruna’s AEPs to high pitched sounds.

High pitched sounds define consonants. Consonants are what make language, messages, and communication in general comprehensible.

Bruna’s hearing loss was first detected as an infant and confirmed at age 4 months. The family dog Pippa also frequently appears in their photos shared on social media that help raise awareness of Usher syndrome.

Our hearts froze for the first time. Bruna was only 4 months old. The world crumbled in front of us. Would our daughter be able to communicate? Would she be able to speak? How would she hear? Would she be able to hear at all? Will she ever hear? Will she be able to hear our voices in a soft and beautiful way?

And music? I had been singing to her from the moment I found out she was inside me. On that day our souls faded.

The next few months were full of adjustments to check if Bruna could manage with hearing aids. They were months of getting used to the idea of accepting and embracing the situation with all our love. We could see Bruna was reacting to stimuli, and that gave us hope. Her energy, her laugh, and her happiness is what made our lives full.

On July 26, 2021, we had appointments with different doctors. One of them was with the geneticist, who had performed a test on us because, after detecting something on Bruna’s genetic test, she wanted to compare it to ours.

That day in July is the date that without any doubt changed our lives drastically: Bruna needed cochlear implants; the hearing aids were not enough. What’s more, Bruna did not have any vestibular response; she had balance problems.

Bruna’s parents worked with Save Sight Now in the U.S. to establish Save Sight Now Europe, both of which are focused on research on retinitis pigmentosa, a symptom of Usher syndrome that leads to blindness.

And then we learned that Bruna has the MYO7A variant that explains all of this: the hearing loss, the balance issues, and what’s more, it means she most likely will be losing her eyesight during the next few years.

Bruna’s diagnosis at age 9 months is Usher syndrome type 1B. It is a rare disease, a recessive inherited disease that we, her parents, had given to her. It is a disease that we had bypassed, but not our daughter.

While it is the most common genetic cause of combined deafness and blindness, Usher syndrome is a rare disease affecting 4 to 17 people out of every 100,000 in the world, or about 400,000 worldwide.

The world—this time for real—everything suddenly crumbled and froze completely.

We were each carriers of the genes, and while we were symptom-free, and indeed no one in our families had even heard of Usher syndrome, we now know our children have a one in four chance of having Usher syndrome and being affected by the condition.

In Usher syndrome, the alteration of a mere seven or eight genes affects the production of a single protein, affecting not only hearing and balance, but also the receptors in the eye, causing them to degrade rapidly over time and eventually die.

The three different types of Usher syndrome speak to the onset age and severity of the disease, with type 1 the earliest and most severe.

And oblivious to all this is Bruna.

Bruna, who turns 4 in October, can maintain a conversation in Catalan and speak simple sentences in French. She loves the piano, music, and dancing.

Bruna received her cochlear implants when she was 11 and 15 months old, first on the right ear and then on the left. For us, her parents, it was a very important and hard decision, and we experienced the process with concern and anguish even though we knew that we were making the best decision to give our daughter the gift of hearing.

Since technology has advanced to the point where it is now, it seemed like an opportunity for us to benefit from it and for Bruna to be able to listen to the world.

At age 3 and a half, Bruna can maintain a conversation in Catalan, her mother tongue, and can also understand and produce simple sentences in French, her second language. From the beginning she loved to say no, both with her voice and her hand, a habit she still enjoys. She loves to talk, enjoys music and listening to her voice, and delights in dancing and playing the piano and guitar. She is a cheerful, communicative, and active girl.

Bruna loves books, swimming pools, the ocean, and slides, but what she enjoys most is giving orders and treats to our tiny dog Pippa. It’s wonderful to see her enjoying all of the different sounds.

As parents we are doing everything we can to give Bruna what we take for granted, the use of all five of our senses. We are committed to providing her with every opportunity to thrive, cherishing each moment as a precious gift.

Berta Adell and Arnau Espinosa are Bruna’s parents. They founded Save Sight Now Europe, in partnership with Save Sight Now in the U.S. Berta is an actor and singer, and Arnau is a researcher at the Wyss Center, a nonprofit neurotechnology research foundation in Geneva whose sister institute is at Harvard. Hearing Health Foundation is glad to share their story of living with Usher syndrome and commitment to fighting childhood blindness. Find them on Instagram @savesightnoweurope.

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