Bruna, Our Driving Force

Bruna was born in Geneva (Switzerland) on October 2020. Those first days were very intense and, inside the whirlpool of being new parents, still at the hospital, a nurse performing an aural screening test 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, no family history… She had tiny ears and the device they were using for the test did not even fit inside them.

After 4 months, they performed a test of auditory evoked potentials (AEP). 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. No answer in high pitch sounds. High pitch sounds define consonants. Consonants are what make language, messages, and communication in general comprehensible.

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 we were lucky and Bruna could manage with hearing aids only. 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, her happiness is what makes our lives full.

Finally, on 26th July 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.

26th July 2021. The date that, without any doubt, has changed our lives drastically: Bruna needs cochlear implants, the hearing aids are not enough. Bruna does not have any vestibular response, she has balance problems. Bruna has the MYO7A mutation that explains the hearing loss, the balance issues, and means that she most likely will be losing her sight during the next few years.

Bruna is diagnosed with Usher Syndrome Type 1B. A rare disease, a recessive inherited disease that we, her parents, had given to her. A disease that we had bypassed, but not our daughter. The world, this time for real, EVERYTHING suddenly crumbles and freezes completely. On the one hand, the implants will allow her to hear (they perform very well with this diagnostic), we think we will be able to grant her the gift of sound. However, on the other hand, vision and balance issues are not treatable. They are not treatable yet.

Bruna smiles at us, she keeps smiling every day, and she is a happy, intelligent, smart and curious child. She is resolute, strong-willed and very eager to communicate. In front of so much BEAUTY we, her parents, are met with such a strong force to FIGHT AND WORK fiercely, to help the scientific world to find a treatment for Bruna. We know it is possible, we know we must persevere and take their research to the last phases of clinical trials, and that takes a lot of work, a lot of money, and a lot of luck. Therefore, we cannot stop working on what we know can be a reality.

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