MEET Emma Amos, 17, a remarkable young woman from Hertfordshire. From birth, Emma has lived with sight loss but at six, she experienced the additional challenge of losing her hearing.
Emma’s journey has been shaped by an ultra-rare genetic condition known as Alstrom Syndrome, a diagnosis she only received in 2021. Around 80 families in the UK are affected, though the figure could be higher. Due to delayed diagnosis and the rarity of the condition, many may still be undiagnosed.
Alstrom Syndrome encompasses various medical issues, with vision and hearing loss being just two aspects of this complex condition.
Emma is currently attending New College Worcester which is a national residential school and college for young people aged 11 to 19 who are blind or partially sighted.
Emma’s Mum, Julie said:
“Despite the obstacles she faced, our daughter has always been a spirited and adventurous little girl. Throughout her childhood, she fearlessly pursued new experiences, refusing to let her condition hinder her zest for life.
“As she matured, she became more cautious but maintained her unwavering determination to try new things before deciding whether to continue with them or not.”
Among Emma’s favourite pastimes is immersing herself in the world of books, and indulging in reality TV shows like ‘Britain’s Got Talent’ and ‘I’m a Celebrity’. She cherishes time spent with friends at school, engages in lively conversations, and enjoys precious moments with her family. Exploring different holiday destinations is also a source of joy for Emma.
Although receiving an official Alstrom diagnosis didn’t significantly alter Emma’s approach to life, it provided her with a name for her condition, going beyond a mere collection of difficult medical issues.
While living with vision impairment poses challenges for Emma and her family, it also brings unexpected positive impacts.
She has the opportunity to engage in activities that may not be readily available to others her age. While there are certain activities she may be unable to participate in, such as riding a bike or driving a car, Emma’s indomitable spirit shines through as she finds alternative ways to conquer and navigate the world around her.
The Royal Society for Blind Children (RSBC) has played a pivotal role in Emma’s life, bringing about transformative changes from the moment she started participating in their activities.
“The support from the Royal Society for Blind Children has been amazing!”
Her Mum, Julie agreed. She said:
“The Sisterhood group, in particular, made Emma feel like a valued member, offering a safe space where girls could openly discuss their personal experiences, knowing that each person in the group truly understood.”
One game-changing aspect of Emma’s journey with RSBC was the technology sessions she had with Alex Man, the charity’s Assistive Technology expert. Prior to these sessions, her mobile phone served merely as a device for calls. However, with the introduction of voiceover technology, Emma now effortlessly navigates texts, social media, and the internet. Furthermore, she can indulge in her beloved TV programmes on her iPad, a newfound source of delight.
Emma emphasises the profound difference the Royal Society for Blind Children makes in the lives of young individuals like herself. Through their support, the charity enables and encourages young people to live their life without limits and provides access to a diverse range of activities facilitated by RSBC and its dedicated volunteers.
“By contributing to the Royal Society for Blind Children, you become a catalyst for positive change and empower children and young people like Emma to embrace their potential and thrive.”
The Royal Society’s Director of Services Carla Rose-Hardman said:
“We want to make sure that we are there for more Deafblind young people and children like Emma. Whether it’s helping to bring young people together at groups like Sisterhood, or opening up opportunities through accessible technology, we want to ensure everyone that needs us has the chance to access our vital services. By making a donation to RSBC you can ensure more young people like Emma have the right support.”
Deafblind Awareness Week is 26 June- 2 July. To donate to the Royal Society for Blind Children, please use this link or email Shalni.Sood@RSBC.org.uk if you’re interested in partnering on a fundraising initiative.