Michelle Fletcher, Charity Coordinator, The Hospital Saturday Fund, presenting a grant of €13,500 to Carol Brill, Chairperson, Usher Syndrome Ireland.
Usher Syndrome
Usher syndrome is a rare, genetically inherited disorder characterised by sensorineural hearing loss and retinitis pigmentosa, which causes a gradual loss of vision. Some individuals with Usher syndrome also experience vestibular (balance) issues.
This condition is known to be the leading genetic cause of combined hearing and sight loss, also known as dual-sensory loss or deafblindness, with an estimated 400,000 people worldwide having Usher syndrome. As the data is limited, it is believed that between 200 and 260 people are living with this condition in Ireland.
About Usher Syndrome Ireland
Carol Brill and Deborah Heffernan, the founders of Usher Syndrome Ireland, have first-hand knowledge of Usher syndrome. With their drive and determination and enlisting the help of others with the same diagnosis, they established Usher Syndrome Ireland in November 2021.
Usher Syndrome Ireland aims to help boost information to medical teams and education packages (launching in September) to provide much awareness of this rare genetic disease, which can often be misdiagnosed as just sight loss or hearing loss, their mission is to ensure that anyone suffering from either sight or hearing loss are automatically tested for Usher syndrome.
Research Breakthroughs
While research into the rare condition is progressing well in the United States and the Netherlands, there is a need for more data, especially in Ireland, where the figures are estimated rather than exact. Approximately 10,000 people in the UK have Usher syndrome, and there is a need to raise awareness so that more people can be diagnosed with the condition.
With sufficient funding, Usher Syndrome Ireland can become a leading research institution in the country. They will be able to collect extensive high-quality data, which will be instrumental in advancing research towards groundbreaking treatments. This includes developing medications that can significantly slow down sight and hearing loss, giving individuals with Usher syndrome a chance to preserve their abilities for much longer.
The Grant
The Hospital Saturday Fund presented a grant of €13,500 to Usher Syndrome Ireland. The grant will go towards funding scoping solutions for data collection to improve the lives of people with Usher syndrome in Ireland. Ultimately, this could pave the way for a cure or even preventative measures, to stopping Usher syndrome.
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