The family of a child who developed a rare eye condition are set to trek Mount Kilimanjaro in aid of the clinicians who saved his sight.
Freddie Richards, who is now seven, was rushed to the emergency department at Southampton Children’s Hospital five years ago after his grandmother had noticed a shadow in his right eye.
Within three days it had also developed in his left eye and, after assessment by ophthalmologist Jay Self, he was diagnosed withacute onset bilateral cataracts – and was effectively blind at the time.
The condition, which affects around one in 10,000 children, had worsened so quickly he underwent emergency surgery on both eyes to remove and replace his lenses.
“We really were up against it with Freddie – if surgery had been delayed by even a few days then he could have lost his sight,” explained Freddie’s mother Hayley, from Southampton.
“We were told that not only was it highly unusual to develop the condition at such a young age, it was even rarer for it to develop and worsen so suddenly.”
Freddie required two operations on his right eye and one on his left, as well as an intensive course of eye drops but the treatment was a success and he is flourishing at school and only attends hospital every three or four months for follow-up.
Hayley added: “It was an incredibly scary time for our family. Freddie was always an outgoing little boy but the issues with his sight left him withdrawn and despondent.
“He was only a toddler at the time so he couldn’t communicate how he was feeling and what he could or couldn’t see.
“The fast response from Jay and his team was amazing and I couldn’t be any more thankful for what they’ve done for Freddie.”
Freddie was recently part of the 100,000 genomes project, which was launched in 2013 to identify the underlying genetic causes of rare diseases by comparing complete sets of DNA, or genomes, from 100,000 NHS patients and their family members.
Through the study, researchers have discovered a possible genetic diagnosis in Freddie’s case but more research is needed to confirm the cause and to develop strategies to help children like him in the future.
“Freddie case was very severe and rapid and we were very lucky to have been able to diagnose and operate on him so quickly in order to restore his sight,” explained Mr Self, who is an associate professor and consultant eye surgeon at the University Hospital of Southampton.
“It is fantastic to see him now thriving and enjoying his school life and, during the course of his time with us, he has also played a significant part in the national 100,000 Genomes Project.”
Freddie’s uncle Paul and a team of family and friends are now set to trek Kilimanjaro, the highest mountain in Africa, to raise funds for Mr Self’s research programme.
All donations will go to the Gift of Sight, a charity linked to the University of Southampton, which funds world-class research into the prevention and treatment of blindness.
Paul Osborne, Freddie’s uncle said “Due to the outstanding care provided by Jay and his team in Southampton, Freddie has been able to live a happy, healthy and, thankfully, normal life.
“Donations to our trip will go directly to support Jay and his paediatric vision research team and their studies into the causes of blindness in children.”
For more information, visit https://www.justgiving.com/fundraising/paul-osborne-team-kilimanjaro
Posted on Wednesday 13 March 2019