Rare Disease Week 2022: Liz’s Story – Usher Syndrome 1F in Brazil

Rare Disease Week 2022

Rare Disease Week is the week that leads up to Rare Disease Day, which is recognized on the last day of February. This year, we are bringing special attention to these events with a series of patient stories, with one being released each day from Monday the 21st to Friday the 25th. At Patient Worthy, our main focus is on sharing the stories of rare disease patients. With this initiative, we are making this more of a priority than ever before.

Our next story for the week comes from our friends at the Usher 1F Collaborative. Click here for a link to the story on their website.

Usher 1F Syndrome in Brazil: Liz Rodrigues’ Story

Diego and Emilia Rodrigues live in São Paulo, Brazil, and are parents to Liz, age three, who has Usher syndrome 1F. Because newborn hearing screening has been mandatory in Brazil since 2010, they learned of Liz’s deafness when she was just two days old while still in the maternity ward. A month later, additional hearing tests confirmed the diagnosis. Subsequently, their doctor requested genetic testing, identifying mutations in the gene responsible for Usher 1F.

At first, it was very difficult for Diego and Emilia to accept Liz’s deafness, and when they then received the genetic testing results with the possibility of Usher syndrome, they were devastated. They don’t live near family, nor do they have close friends nearby, making coping with the diagnosis even more difficult. Emilia says, “It was the hardest time of our lives.” Fortunately, their families were very supportive from afar.

Instead of simply sitting back and crying, Diego and Emilia took action, looking for the best professionals in Brazil. They were able to find a great team of physicians in São Paulo. Both an otolaryngologist who specializes in deafness and an ophthalmologist who specializes in inherited retinal diseases monitor Liz.

Another source of comfort for Diego and Emilia came in the form of support groups for children born deaf and their families, as well as attending meetings and presentations to learn more about deafness. They found crucial comfort, as well as strength to face the challenge while also benefitting from needed information and care. However, Usher 1F is much more rare than deafness, and so they miss having contact with other Usher 1F families, which they believe could have helped them even more in that moment of mourning.

Liz Rodrigues

Liz was fitted with hearing aids and began speech therapy when she was four months old. When she was ten months old, she received a cochlear implant in one ear and will soon receive a bilateral implant in her other ear. She loves to hear, and her parents are happy she can “hear the most beautiful sounds in the world, music, the sea, a heartbeat” and that her cochlear implant facilitates communication.

In addition to speech therapy, in São Paulo the Rodrigues family also participates in the Instituto Escuta, which is an organization that aims to help deaf children and their families. Instituto Escuta promotes weekly meetings with the children and their families, proposing different activities that stimulate speech and development as a whole, along with the social aspect of sharing stories and information.

Liz is a wonderful girl. She takes music lessons and also loves singing, reading, drawing, and climbing on all the furniture in her house, and even climbing on her father. She has a strong personality and works hard to get what she wants. She is very affectionate and smart. Diego and Emilia are very proud of their daughter, citing every new word or expression as cause for celebration and emotion.

The Rodrigueses crave to see Liz living a peaceful, happy life with many opportunities. “We want our daughter to be whatever she wants, to travel the world and fulfill her dreams. We know the vision loss of Usher 1F could be a potential hurdle in her life and, hence, a cure for retinitis pigmentosa is what we most want in life.” A cure would be a dream come true for them.

Diego and Emilia welcome communication from other parents of children with Usher 1F to “talk, vent and exchange experiences.”

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