{"id":109812,"date":"2025-08-31T13:25:17","date_gmt":"2025-08-31T13:25:17","guid":{"rendered":"https:\/\/www.newsbeep.com\/ca\/109812\/"},"modified":"2025-08-31T13:25:17","modified_gmt":"2025-08-31T13:25:17","slug":"york-girl-is-the-only-child-in-the-country-with-genetic-condition","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/ca\/109812\/","title":{"rendered":"York girl is the only child in the country with genetic condition"},"content":{"rendered":"

Grace WoodBBC News, Yorkshire<\/p>\n

\"GracieGracie Davies<\/p>\n

Juno was 10 months old when she was diagnosed with a rare genetic condition<\/p>\n

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.<\/p>\n

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.<\/p>\n

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.<\/p>\n

“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.<\/p>\n

“I’ve had a few side effects, but otherwise I’m OK.”<\/p>\n

\"GracieGracie Davies<\/p>\n

Juno’s condition has required Gracie Davies to give up full-time work<\/p>\n

She is now a full-time carer for Juno, who has a speech impairment and intellectual disability as a result of the genetic illness.<\/p>\n

“Our life now with a three-year old isn’t what we expected it would be,” she said.<\/p>\n

“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.<\/p>\n

“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.”<\/p>\n

The family discovered Juno’s condition when she got to 10 months old and still could not sit up.<\/p>\n

“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.<\/p>\n

“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.<\/p>\n

“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.”<\/p>\n

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.<\/p>\n

“We’ve recently signed up to a big database so that if anyone else gets diagnosed, they’ll get our details,” said Ms Davies.<\/p>\n

“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.”<\/p>\n

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.<\/p>\n

“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.<\/p>\n

“It’s quite ironic now because we are actually in the process of applying to do that to our own house.”<\/p>\n

Juno struggles to walk and needs to be carried up and downstairs and help getting in out of the bath.<\/p>\n

She has a walking frame and has received specialist physiotherapy.<\/p>\n

Ms Davies, her husband Lance Hodgson and Juno recently appeared on BBC show The Travelling Auctioneers, selling unwanted collectibles and heirlooms, to pay for her treatment.<\/p>\n

“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.<\/p>\n

“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.”<\/p>\n

\"GracieGracie Davies<\/p>\n

Gracie Davies, her husband Lance Hodgson and Juno recently appeared on BBC show The Travelling Auctioneers<\/p>\n

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 \u2013 a procedure she felt she needed because of Juno.<\/p>\n

“One of the things Juno finds hilarious is grabbing at glasses or earrings or a necklace.<\/p>\n

“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.<\/p>\n

“Sometimes they were getting bent out of shape. I was having to go back and get them fixed all the time.”<\/p>\n

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.<\/p>\n

“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.<\/p>\n

“That was in May, and it feels like longer ago. I’ve just got so used to it.”<\/p>\n","protected":false},"excerpt":{"rendered":"Grace WoodBBC News, Yorkshire Gracie Davies Juno was 10 months old when she was diagnosed with a rare…\n","protected":false},"author":2,"featured_media":109813,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[25],"tags":[49,48,316,66],"class_list":["post-109812","post","type-post","status-publish","format-standard","has-post-thumbnail","category-genetics","tag-ca","tag-canada","tag-genetics","tag-science"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/posts\/109812","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/comments?post=109812"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/posts\/109812\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/media\/109813"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/media?parent=109812"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/categories?post=109812"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/tags?post=109812"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}