An inspiring little girl from Shefford is hoping the community can rally together for Jeans for Genes Day and help support families living with genetic disorders.
Rowen Riddett, aged five, has Fanconi Anaemia (FA), a rare, life-limiting condition causing bone marrow failure in children and a predisposition to gynaecological and head and neck cancers.
But the brave youngster is taking it all in her stride, and hopes the Biggleswade community can support ‘Jeans for Genes Day, which takes place from September 16–20, and invites everyone to wear their jeans to work or school in return for a donation to the charity Genetic Disorders UK.
Sam and husband Toby, remember when they first realised there was a problem with their daughter after she was born.
Sam said: “It was clear she had trouble swallowing. We quickly found out her food pipe wasn’t connected – there was a dead end at the top, and her stomach was connected to her lungs. It was horrendous to discover this, but at three days old she had surgery to connect it and that went well.”
However, the doctors told Sam and Toby that the condition was often connected to genetic problems, so brave Rowen was put under the care of the genetics team at Addenbrookes Hospital.
Nothing was found, but then, at around nine months, Rowen developed ‘café au lait’ marks, similar to birth marks but fainter.
A geneticist felt FA was unlikely, as Rowen didn’t have any of its usual physical markers, which can include problems with the hands and feet, such as abnormal thumbs, absent radii and short stature.
However, the family were sent a leaflet about the 100,000 Genome Project, which was gathering information about genes from lots of families, and said it would report back if anything was picked up.
Eventually, Sam and Toby received a letter to say one of them had a definite FA gene and the other a likely one.
“I was so naïve. I saw the word ‘anaemia’ in the letter and felt relieved,” said Sam. “I thought that was all it was and just meant she needed iron. Then I decided to Google FA and I went into meltdown.”
Two weeks later, tests confirmed Rowen definitely had FA.
Rowen’s platelet count has already begun to drop and she is likely to go into bone marrow failure between the ages of seven and eight, and there is no cure for the cancer-predisposing condition.
“She’s on the register for a transplant match and the list for possible gene therapy trial at Great Ormond Street, and we’ll know how many matches she has when we go for her next appointment,” said Sam.
“If there are lots of matches we can wait but if not, we need to explore other options. People can also drop off the register.”
For now, Rowen knows that “the blood maker in her body doesn’t know what to do”, so she may need someone else’s to teach it.
However, the future holds a lot of worry.
“Even with a transplant there’s a 10 per cent risk it won’t work, or she could even die because of it,” said Sam.
“And when you get past that, she still has a higher risk of different types of cancer so we will have to be very careful. I worry about the teen years, when I have less control over her – being near people who smoke, for example, could be dangerous for her.”
The family would like to thank the fantastic doctors, their audiologist (Rowen also has hearing problems), and the 100,000 Genome Project for all their help. They have also joined the charity Fanconi Hope.
Sign up for your free fundraising pack at: www.jeansforgenesday.org