A mom-of-three has spoken out about her shock after her daughter was diagnosed with an ultra-rare genetic disease that only affects hundreds worldwide.
Florence Violet, aged just six months, was diagnosed with CHAMP1 in spring last year after her mom noticed she wasn’t reaching milestones, such as sitting up and babbling, as quickly as her two older sisters.
The disease is so rare that none of the doctors at St. Luke’s Hospital, Bradford, West Yorks., UK, had even heard of it after the young tot was diagnosed.
Mom Farrah Taylor, 36, said GPs originally put down the developmental delays to the fact Florence, now aged 16 months, had been born a month early.
She said: “I’ve had three children, and I just knew that there was something not quite right. We had a lot of hospital admissions—she was poorly quite a bit.
“Every time I went to the GP or I’d take her to the hospital, I’d get told the same thing: ‘Oh, she was born early.’”
But the persistent mom trusted her instincts and didn’t back down.
After looking up baby Florence’s symptoms online, a hospital doctor agreed to carry out genetic testing, which came back with the diagnosis.
The mom-of-three, who has given up her admin job to take Florence to her appointments, continued: “When we got the initial phone call from her doctor at the time, she rang me and told me.
“I was so upset, and she said, ‘Calm down, we don’t know anything quite yet.’
“When we went to see her, she explained that she’d never heard of it, and none of her colleagues in the hospital had heard of it.
“She said she reached out to people she trained with in university and people she’s worked with in the past, and nobody’s actually heard of it.
“That was the first red flag—being so scared. It’s the unknown that’s scary.”
According to the CHAMP1 UK charity, the disease affects roughly 1 in every 52 million people, with around 170 documented diagnoses worldwide.
The problem comes from a mutation in the CHAMP1 gene, which is important for maintaining DNA and brain development and can cause cognitive problems, physical disabilities, and other issues.
Mom Farrah says tests show neither she nor dad Jonathan Priestley, 36, carry the mutation.
Farrah said: “It was scary when we found out. I think it was more frustrating at first trying to get somebody to actually listen instead of just saying, ‘Oh, it’s because she’s premature.’
“It was more frustrating at first until we got the answers, and then it went from frustration to being very scared and upset.”
Now, 10 months on, the family is counting themselves lucky whenever young Florence reaches a milestone.
Farrah said: “She’s so smiley, she’s so happy. She’s doing so, so well.
“She’s exceeding what we thought she was ever going to do. That’s been quite a blessing because, at one point, we weren’t sure that was ever going to be the case.
“Every milestone she’s reached has been a celebration.
“When we saw her take her first steps, we were in tears. Even though I’ve seen it happen twice before with my two other children, this time around, everything just feels more… I don’t want to say special, but it just feels more important.”
