Freddie was six years old when he was diagnosed with CAPS (Cryopyrin-Associated Periodic Syndrome), an extremely rare condition affecting around one in a million people. Now he’s taking part in Bad Hair Day to raise money and help other children at Great Ormond Street Hospital (GOSH).
A long road to diagnosis
Freddie started showing worrying symptoms when he was a young baby. “He used to cry in pain quite often, which doctors put down to colic. He regularly got rashes and temperatures, as well as puffy joints and he struggled to open his eyes upon waking from sleep,” recalls Freddie’s mum, Angela. “Our GP thought he might have the beginning of chicken pox a couple of times, but the rashes went down the next day”.
In January 2009, when Freddie was 11 months old, he became really poorly. His eyes were swollen so much he was unable to open them at all, he had a temperature, his joints were swollen and he was crying in pain. At this point he was admitted to Basildon Hospital, but they weren’t able to find what was wrong. Freddie was in hospital for a week, after which he was referred to GOSH for tests as doctors there couldn’t determine what was wrong.
At GOSH, Freddie was first treated on the hospital’s Rapid Assessment Neurology Unit (RANU), a ward for children with neurological problems. The hospital thought it could be a condition called congenital myasthenia, a group of conditions characterised by muscle weakness. As a result, Freddie was referred to the John Radcliff hospital in Oxford but the diagnosis was soon dispelled and Freddie was referred back to GOSH for more tests,
Finding the answer
“All of this testing and moving around took time,” explains Angela. Freddie was six years old by the time he was referred to the Rheumatology department at GOSH, where Dr Brogan diagnosed Freddie with CAPS (Cryopyrin-Associated Periodic Syndrome), an extremely rare condition affecting around one in a million people. The condition is a group of rare, inherited, auto inflammatory diseases which cause periodic fever.
Freddie now sees Dr Brogan at GOSH regularly, having injections every eight weeks on Penguin ward to treat his condition. Since he started the treatment, his health has improved dramatically. He has more energy and his attendance at school has improved, he has started to play football and his joints and eyes no longer swell on a regular basis.
“We were really relieved to get a diagnosis and Freddie’s life has really changed since,” explains Angela. "His quality of life has really improved because he had begun to get arthritis in his knees and ankles and would struggle to walk. Sometimes we had to carry him because he was in so much pain.
“We used to have to get a taxi from the tube to the hospital because he couldn’t walk the short distance, but now he is playing football and runs around. He is so much better and happier. Being in pain all the time is miserable, especially for a child who doesn’t understand why.
“It’s something he will have to live with for the rest of his life, but at least now we know how to treat it. He had to have counselling because he was sad all the time, but now he’s not in pain he is really happy!”
The family are looking forward to their first holiday this year. “Because he’s been so poorly for so long we could never get travel insurance and we’d always have to be close a hospital,” explains Angela. “This year, at last, we’re hoping to go abroad this year for the very first time!”
Freddie and his family have made friends with other patients and parents on the ward who have the same condition. “They have bonded because the condition is so rare and they come in for treatment at the same time. It’s good to talk about it because it’s so rare.”
This February the family will be doing something silly with their hair to raise money for other children like Freddie. Sign up to Bad Hair Day now, and we’ll pop your free fundraising kit in the post.