Jack (13) and Oliver (10) were diagnosed with the inherited retinal condition retinitis pigmentosa. Emily and husband Darren had noticed that Jack was clumsy and often bumped into things and couldn’t see at all in dim light.
There is no family history of the condition and unfortunately it has not been possible to identify the causative gene following genetic testing. This means that it is not possible to test the younger boys and they are having to keeping a look out for early symptoms such as night blindness.
The diagnosis was devastating and has been challenging for Emily and her husband Darren to come to terms with it. They describe the Retina UK website as a valuable resource of information to help them understand the condition and has helped her to see that the boys will be able to do a great many things in their lives, just by adapting how they approach them.
The family hope that the research that Retina UK invests in will lead to a better understanding of inherited retinal conditions and possibly treatments that could benefit their family and others affected.
The family have fundraised for the charity in the past – Emily did a skydive and the family have organised fundraising events, including football matches, auctions and raffles. They are featured in our BBC Lifeline appeal which aired in July 2020.