A Massachusetts couple is celebrating a heartwarming milestone as their 10-month-old daughter, Charlie, born deaf due to Usher syndrome, experiences the joy of hearing for the first time thanks to cochlear implants.
A Massachusetts couple is overjoyed after their 10-month-old daughter, born deaf, was able to hear them for the first time thanks to cochlear implants. Erin Sinclair of Gilbertville said the unforgettable event happened last month at UMass Memorial Medical Center. The couple's daughter, Charlie, was born with a rare genetic disorder, Usher syndrome, which affected her hearing.
According to the National Institutes of Health, Usher syndrome is 'a rare genetic disease that affects both hearing and vision.' Over the last ten months, I would say that the amount of doctor's appointments and specialists and diagnoses have all been very much an emotional roller coaster,' Sinclair told FOX Television Stations. The couple said they started to learn sign language because they were unsure if they wanted their daughter to receive cochlear implants to help their baby hear. 'I was avidly learning sign language because we were a little bit nervous because we didn't know a whole lot about Cochlear,' the mother continued. Sinclair said they don't know if Charlie will lose her vision due to Usher syndrome, which prompted the couple to get the cochlear implants. 'We wanted to ensure that she wasn't losing two senses and that she was only losing one,' she added. 'So if we have the option to intervene, we were going to take that opportunity and that's why we initially chose to do the cochlear implant.'Sinclair said it took a while for doctors to activate the cochlear implants, but once they did, the couple and their daughter all became overwhelmed and experienced a 'roller coaster of emotions.' 'She just lit up like she was genuinely excited to hear us talking to her,' the mother added. 'It was very rewarding after everything that we went through with her.' For her to look at us with disbelief in her eyes that she could actually hear what we were saying was just really exciting.' Sinclair said having the implants not only helps with her daughter's hearing but also her balance. She said the rule of thumb is to activate the cochlear implants every time she wakes up. The couple said they usually enjoy outdoor activities and are happy their daughter can experience them too. 'I feel like is giving her another avenue to have that confidence to explore her environment,' Sinclair said. The family has set up a GoFundMe page to help with related expenses. According to NIH, Usher syndrome is caused by a change in genes. Scientists have found 9 different genes that can cause Usher syndrome, according to the NIH. There's also no cure, but treatment is available to make the most of hearing and vision. The NIH said recent clinical trials are studying a new type of gene therapy that targets one of the most common mutations that cause Usher syndrome (USH2A). This could lead to new treatment that improves vision for people with Usher syndrome
COCHLEAR IMPLANTS DEAFNESS USHER SYNDROME HEARING MASSACHUSETTS
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