Grace Wood News, Yorkshire
The mother of a three-year-old girl who is the only person in the UK with a rare genetic condition has spoken about the “rough year” in which she herself was treated for cancer in her 30s.
Gracie Davies, from York, has had to give up her career to care for Juno, who is one of just 18 people in the world living with TRAPPC6B.
The 37-year-old said her daughter was diagnosed earlier this year after suffering from developmental delays and learning difficulties, not long after Ms Davies was told she had thyroid cancer.
“It was quite a scary time. Last year was a rough year. I had the last of my treatment in February, and then I had a six-month follow-up with blood tests.
“I’ve had a few side effects, but otherwise I’m OK.”
She is now a full-time carer for Juno, who has a speech impairment and intellectual disability as a result of the genetic illness.
“Our life now with a three-year old isn’t what we expected it would be,” she said.
“When you think of life with a toddler, you think of the usual ways that would be difficult, but at least the upsides are the things you can go out and do as a family.
“Even if you just go for a walk to, say, a National Trust property or something like that, often the playgrounds are lovely, but there’s nothing that she can use.”
The family discovered Juno’s condition when she got to 10 months old and still could not sit up.
“We found out through whole genome sequence testing, so that’s when they take a blood sample and they look at all of your genetic material.
“They looked at her small size, development delay, learning difficulties, things like that. And then at the same time they took blood from myself and my husband to compare.
“They found through that I had a change and my husband had the change in the same area. So then that’s when they discovered that Juno had inherited both copies.”
The condition is caused by a mutation in the genes. There is only one other known case in Europe, in France, but the families have been unable to make contact.
“We’ve recently signed up to a big database so that if anyone else gets diagnosed, they’ll get our details,” said Ms Davies.
“I made a Facebook group and I’m the only member, but if anyone else does get diagnosed and then they search for it, at least they’ll find me.”
Caring for Juno required Ms Davies to give up her career as a building surveyor, where she specialised in designing home adaptations for families with disabled children.
“I spent most of my career in marketing, but then I had a bit of a change and I decided to go back to uni.
“It’s quite ironic now because we are actually in the process of applying to do that to our own house.”
Juno struggles to walk and needs to be carried up and downstairs and help getting in out of the bath.
She has a walking frame and has received specialist physiotherapy.
Ms Davies, her husband Lance Hodgson and Juno recently appeared on show The Travelling Auctioneers, selling unwanted collectibles and heirlooms, to pay for her treatment.
“I didn’t go back to work and I just assumed I would continue my career, but she can’t do a full day of nursery.
“She just gets too tired. Her condition means she needs quite a lot of sleep, so she’s only doing mornings, which also limits my ability to be able to work office hours.”
As the family are now a one-income household, Ms Davies, who has always worn glasses, was never able to pay for laser eye surgery – a procedure she felt she needed because of Juno.
“One of the things Juno finds hilarious is grabbing at glasses or earrings or a necklace.
“So it was getting to the point that every time I picked her up she was grabbing my glasses and finding it hilarious to throw them on the floor.
“Sometimes they were getting bent out of shape. I was having to go back and get them fixed all the time.”
Ms Davies applied for laser eye surgery with Optical Express’s Thanks a Million campaign, which offers free treatment to NHS workers, emergency responders and unpaid carers.
“When they got broken, I would have to pay for new glasses, which isn’t great when you’re not earning, so it’s made a really big difference.
“That was in May, and it feels like longer ago. I’ve just got so used to it.”
