{"id":237243,"date":"2025-07-04T11:11:11","date_gmt":"2025-07-04T11:11:11","guid":{"rendered":"https:\/\/www.europesays.com\/uk\/237243\/"},"modified":"2025-07-04T11:11:11","modified_gmt":"2025-07-04T11:11:11","slug":"family-of-one-year-old-with-rare-genetic-disorder-raises-funds-for-wales-air-ambulance","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/uk\/237243\/","title":{"rendered":"Family of one-year-old with rare genetic disorder raises funds for Wales Air Ambulance"},"content":{"rendered":"

Jack Thomas and his family at the base <\/p>\n

The family of a one-year-old boy with a rare and life-limiting genetic disorder has raised nearly \u00a31,000 for Wales Air Ambulance by hosting a community Coffee and Cake event to mark the charity\u2019s 24th anniversary. Jack Thomas, from Wales, is the only known child in the UK with a mutation of the PPFIPP1 gene – a condition so rare it does not have a name. <\/p>\n

The disorder causes drug-resistant seizures, developmental delays, microcephaly, and severe sight impairment, among other health challenges. Jack\u2019s condition is shared by only 15 children worldwide.<\/p>\n

His mother, Amanda, said:\u00a0\u201cJack is so special. He\u2019s overcome so many odds since birth, and we are grateful for every day with him. When you have a child with serious health issues, knowing Wales Air Ambulance is there if needed brings real reassurance.\u201d<\/p>\n

\"\"Jack Thomas<\/p>\n

Jack has been admitted to hospital multiple times and has needed emergency medical support on several occasions. Wales Air Ambulance clinicians have been called to assist on three of those incidents, providing critical care assessment at the scene.<\/p>\n

Amanda and her husband, Nick, organised the fundraiser in March to give back to the service that has supported their family during some of their most worrying moments. The event was a community effort, with friends and family helping bake, serve refreshments, and run the day.<\/p>\n

Amanda added:\u00a0\u201cThe best part was visiting Cardiff Heliport with Jack to hand over the cheque and meet the incredible clinicians who\u2019ve helped us. We are so thankful for all they do.\u201d<\/p>\n

\"\"\u00a0Eliana, Charlie, Oscar with Jack in pram<\/p>\n

Wales Air Ambulance relies on donations to raise the \u00a311.2m needed annually to keep its helicopters flying and rapid response vehicles on the road. Gail Windley, regional fundraising manager, said:\u00a0\u201cJack has melted our hearts. We\u2019re hugely grateful to the Thomas family for their support during such a difficult time. Every pound raised helps us save lives.\u201d<\/p>\n

Location: St Athan Vale of Glamorgan<\/p>\n","protected":false},"excerpt":{"rendered":"Jack Thomas and his family at the base The family of a one-year-old boy with a rare and…\n","protected":false},"author":2,"featured_media":237244,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3846],"tags":[267,59508,12893,70,59509,16,15],"class_list":{"0":"post-237243","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-genetics","9":"tag-glamorgan-gazette","10":"tag-inyourarea-community","11":"tag-science","12":"tag-south-wales-echo","13":"tag-uk","14":"tag-united-kingdom"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@uk\/114794665478387266","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/237243","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=237243"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/237243\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media\/237244"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media?parent=237243"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/categories?post=237243"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/tags?post=237243"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}