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","protected":false},"excerpt":{"rendered":"The family discovered Juno’s condition when she got to 10 months old and still could not sit up.…\n","protected":false},"author":2,"featured_media":387165,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3846],"tags":[267,70,16,15],"class_list":{"0":"post-387164","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-genetics","9":"tag-science","10":"tag-uk","11":"tag-united-kingdom"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@uk\/115123531558532361","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/387164","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/comments?post=387164"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/387164\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media\/387165"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media?parent=387164"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/categories?post=387164"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/tags?post=387164"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}