{"id":5528,"date":"2025-09-22T20:32:28","date_gmt":"2025-09-22T20:32:28","guid":{"rendered":"http:\/\/curiousdrive.com\/?p=5528"},"modified":"2025-09-24T21:33:50","modified_gmt":"2025-09-24T21:33:50","slug":"baby-1-has-deadly-health-issue-so-rare-it-doesnt-even-have-a-name","status":"publish","type":"post","link":"http:\/\/curiousdrive.com\/index.php\/2025\/09\/22\/baby-1-has-deadly-health-issue-so-rare-it-doesnt-even-have-a-name\/","title":{"rendered":"Baby, 1, has deadly health issue so rare it doesn\u2019t even have a name"},"content":{"rendered":"
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Jack Thomas lives with an ultra-rare condition that has no name or no cure (Picture: Jam Press)<\/figcaption><\/figure>\n

A mother says that her baby has a health<\/a> condition so rare that it doesn’t even have a name. <\/p>\n

Amanda Thomas, 35, from Glamorgan in Wales<\/a>, is the mother to one-year-old Jack, who lives with a condition that has no cure.<\/p>\n

Doctors<\/a> told Amanda her son had a mutation of PPFIBP1, a gene that acts as an instruction map for nerve cells in the brain and nervous system. <\/p>\n

He is one of 16 other known cases worldwide.<\/p>\n

They also warned Jack may only have one year left to live and he could soon be unable to sit, talk or walk.<\/p>\n

The mutation can also cause microcephaly, a condition where a baby is born with a head that is smaller than usual.<\/p>\n

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Amanda Thomas, with her son (Picture: Jam Press)<\/figcaption><\/figure>\n

Jack is now blind and lives with frequent, drug-resistant seizures, which Amanda described as ‘heartbreaking’.<\/p>\n

‘No parent wants to be told that they will outlive their child,’ she said.<\/p>\n

‘Having to plan for that eventuality is heartbreaking. I sometimes think there’s no way I can cope, but I have to, for Jack.<\/p>\n

‘As a family, we’re just enjoying each moment we have with him; taking it day-by-day.’<\/p>\n

Amanda, a former social care worker, noticed her son couldn’t make eye contact.She found his right eye turned outwards and became fixed before he suffered a life-threatening seizure.<\/p>\n

She and her husband, Nicholas, 44, took their son to A&E, but were sent home by doctors initially, after they said all newborns do ‘weird’ things with their eyes.<\/p>\n

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\n\t\t\"A\t<\/div>
Jack in hospital after being diagnosed (Picture: Jam Press)<\/figcaption><\/figure>\n

Amanda recalled blaring alarms and nurses rushing to tend to Jack.<\/p>\n

She said: ‘I could see them resuscitating him; I truly thought he was slipping away from me.’<\/p>\n

The couple agreed to genetic testing, which found they both had a faulty copy of the gene.<\/p>\n

The couple was prompted to take the test after doctors found fluid in Jack’s neck during their 12-week scan.<\/p>\n

The parents were told Jack would only have a 25% chance of survival.<\/p>\n

Amanda added: ‘I felt shocked and numb. I had so many questions, but couldn’t speak.<\/p>\n

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Jack’s mother hopes to raise awareness about his rare condition (Picture: Jam Press)<\/figcaption><\/figure>\n

‘All I wanted to hear was that he was going to be OK – but no one could tell us that.<\/p>\n

‘The hardest part was being told that sufferers usually pass away during childhood.<\/p>\n

‘It’s a grey area; he could have one, five, or 10 years left. No one knows.’<\/p>\n

Although Jack currently undergoes physiotherapy and occupational therapy to help strengthen his core, Amanda has since set up a GoFundMe <\/a>to raise money for his treatment.<\/p>\n

The family have so far raised \u00a31,280 of their \u00a320,000 target, which could help towards a specialist wheelchair, a sensory room for Jack, a bigger car and money towards treats for Jack’s siblings.<\/p>\n

She wrote on her fundraising page that Jack’s three other siblings, who do not have the faulty gene, are ‘incredibly strong but feeling the emotional strain’.<\/p>\n

She also hopes to raise awareness about Jack’s unnamed condition and hopes to find others who have been impacted by the disease.<\/p>\n

By posting on social media<\/a> about Jack, she met a woman from Georgia in the US<\/a>, whose daughter died from the disease, aged two.<\/p>\n

Amanda hopes to enjoy every moment with her family.<\/p>\n

‘We just enjoy him. We celebrate those little milestones that may not mean much to others,’ she said.<\/p>\n

‘We do enjoy days out and have managed a little caravan holiday so far – which was challenging – but we made lovely memories.<\/p>\n

‘The joy he brings us is amazing, and we are so proud of him.<\/p>\n

‘I used to think the house not being tidy and the washing piling up was so important.<\/p>\n

‘Now I’m realising the most important thing is that our son is still with us. And right now, that’s all I could ask for.’<\/p>\n

Get in touch with our news team by emailing us at webnews@metro.co.uk<\/a>.<\/strong><\/strong><\/strong><\/p>\n

For more stories like this, <\/strong>check our news page<\/strong><\/a>.<\/p>\n<\/p>\n


\n\t\t\tComment now<\/title><\/span><br \/>\n\t\t\t<span class=\"share-bar-comments__label\">Comments<\/span><br \/>\n\t\t<\/a><\/section>\n","protected":false},"excerpt":{"rendered":"<p>Jack Thomas lives with an ultra-rare condition that has no name or no cure (Picture: Jam Press) A mother says that her baby has a health condition so rare that it doesn’t even have a name. Amanda Thomas, 35, from Glamorgan in Wales, is the mother to one-year-old Jack, who lives with a condition that […]<\/p>\n","protected":false},"author":1,"featured_media":5530,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[9],"tags":[],"_links":{"self":[{"href":"http:\/\/curiousdrive.com\/index.php\/wp-json\/wp\/v2\/posts\/5528"}],"collection":[{"href":"http:\/\/curiousdrive.com\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"http:\/\/curiousdrive.com\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"http:\/\/curiousdrive.com\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"http:\/\/curiousdrive.com\/index.php\/wp-json\/wp\/v2\/comments?post=5528"}],"version-history":[{"count":3,"href":"http:\/\/curiousdrive.com\/index.php\/wp-json\/wp\/v2\/posts\/5528\/revisions"}],"predecessor-version":[{"id":5535,"href":"http:\/\/curiousdrive.com\/index.php\/wp-json\/wp\/v2\/posts\/5528\/revisions\/5535"}],"wp:featuredmedia":[{"embeddable":true,"href":"http:\/\/curiousdrive.com\/index.php\/wp-json\/wp\/v2\/media\/5530"}],"wp:attachment":[{"href":"http:\/\/curiousdrive.com\/index.php\/wp-json\/wp\/v2\/media?parent=5528"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"http:\/\/curiousdrive.com\/index.php\/wp-json\/wp\/v2\/categories?post=5528"},{"taxonomy":"post_tag","embeddable":true,"href":"http:\/\/curiousdrive.com\/index.php\/wp-json\/wp\/v2\/tags?post=5528"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}