Pioneering stem cell research - Pamela's story

Three years ago, at age 16, Pamela was diagnosed with Usher syndrome type II, a rare genetic condition that causes progressive hearing and sight loss.

Since her diagnosis, she’s donated skin cells to help pioneering stem cell research that researchers hope one day will restore vision to thousands affected by sight loss.

Pamela first started to lose her hearing when she was just three years old. From then, it became progressively worse, until the age of 10, when she came to GOSH for tests to see if she had any of the genes that were known to cause deafness. The results were negative. 

A difficult time

Equipped with hearing aids and speech and language therapy, Pamela was able to live a normal life. But, four years later, she noticed something was wrong with her vision. Pamela explains: "At my local drama group, we were doing our annual Christmas show. I remember it being pitch-black backstage and everyone was running around, but I couldn’t see a thing. I wondered why everyone else could see apart from me."

For the next year, Pamela had tests at her opticians, local hospital and at Moorfields Eye Hospital. She remembers it being a difficult time:

At age 16, she returned to GOSH for a deafness gene panel, to screen for genetic mutations that cause deafness. Having made a huge leap forwards in understanding how our genes work, GOSH was then able to diagnose Pamela with Usher syndrome type II. As well as hearing loss, the condition causes progressive sight loss, as light-sensitive retinal cells begin to degenerate. Pamela now has night blindness and a tunnel-like field of vision.

She has regular check-ups to monitor her hearing and vision loss, which seem to have stabilised in the last few years. Adjusting to the gradual loss of her senses has been a challenging process. "Since my diagnosis, I've learnt to do everything much slower,” says Pamela. “Before, I was trying to do things as normal and hurting myself all the time."

Pioneering stem cell research

Research has played a big part in helping to diagnose Pamela and that research wouldn’t have been possible without donations from generous supporters. Last year, to help research into new treatments for retinal disorders, Pamela donated some of her skin cells. Pamela says: "I knew I’d be helping loads of people, that’s why I decided to donate my cells. I remember being scared of the needles, but with the local anaesthetic I didn't feel anything! It was over so quickly. I would do it again. My advice to anyone considering taking part in research is just do it, because you're helping so many people."

Pamela is now continuing her altruistic streak by training to be a nurse. "I just started my first year of training, which I'm really enjoying. Recently, I was helping to do skin biopsies, which was what was done to me! So far, the only challenge has been the dim lighting on the wards during night shifts. But my current placement is in a well-lit clinic, which is great."

Throughout her experience, she’s had the love and care of family and friends. Pamela says: "My mum is so supportive. She picks me up when I'm out and sends me information about various trials and research on Usher syndrome. My cousin ran a marathon, and is running another this year to raise money for Sense, the disability charity." With the support of family and friends, and the hope of what GOSH’s pioneering research projects could bring, a more hopeful future is in sight for young people like Pamela.

How you can help

By supporting the summer Pioneer Appeal, you can help to fund potentially life-changing research projects and give young people, like Pamela, the chance of a better future.

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