{"id":309301,"date":"2025-10-16T23:45:11","date_gmt":"2025-10-16T23:45:11","guid":{"rendered":"https:\/\/www.europesays.com\/us\/309301\/"},"modified":"2025-10-16T23:45:11","modified_gmt":"2025-10-16T23:45:11","slug":"baby-freddies-completely-out-of-the-blue-cancer-detected-by-genetic-screening","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/us\/309301\/","title":{"rendered":"Baby Freddie\u2019s \u2018completely out of the blue\u2019 cancer detected by genetic screening"},"content":{"rendered":"<p>Your support helps us to tell the story<\/p>\n<p class=\"sc-1uza6dc-0 jEZjIj\">From reproductive rights to climate change to Big Tech, The Independent is on the ground when the story is developing. Whether it&#8217;s investigating the financials of Elon Musk&#8217;s pro-Trump PAC or producing our latest documentary, &#8216;The A Word&#8217;, which shines a light on the American women fighting for reproductive rights, we know how important it is to parse out the facts from the messaging.<\/p>\n<p class=\"sc-1uza6dc-0 jEZjIj\">At such a critical moment in US history, we need reporters on the ground. Your donation allows us to keep sending journalists to speak to both sides of the story.<\/p>\n<p class=\"sc-1uza6dc-0 jEZjIj\">The Independent is trusted by Americans across the entire political spectrum. And unlike many other quality news outlets, we choose not to lock Americans out of our reporting and analysis with paywalls. We believe quality journalism should be available to everyone, paid for by those who can afford it.<\/p>\n<p><strong class=\"sc-1uza6dc-1 gunhQQ\">Your support makes all the difference.<\/strong>Read more<\/p>\n<p>A baby was found to have a rare eye cancer and his sight is expected to be saved thanks to a new screening tool which is being assessed for widespread use.<\/p>\n<p><a href=\"https:\/\/www.independent.co.uk\/topic\/families\" rel=\"nofollow noopener\" target=\"_blank\">Families<\/a> across <a href=\"https:\/\/www.independent.co.uk\/topic\/england\" rel=\"nofollow noopener\" target=\"_blank\">England<\/a> are taking part in a \u201cworld-leading research study\u201d which is screening 100,000 newborn babies in England for dozens of genetic conditions.<\/p>\n<p>One mother, whose son was diagnosed with a rare cancer picked up by the study, described how the results came \u201ccompletely out of the blue\u201d.<\/p>\n<p>Vicky Underhay\u2019s son Freddie was enrolled into the Generation Study which sees newborn babies offered whole genome sequencing using blood samples, usually taken from the umbilical cord shortly after birth.<\/p>\n<p>Just four weeks after he was born at Sheffield Teaching Hospital in April, Freddie was diagnosed with a rare and aggressive form of eye cancer, which was picked up as a result of screening.<\/p>\n<p>Freddie\u2019s father Joey Underhay said that taking part in the study had changed his son\u2019s life \u201cphenomenally\u201d.<\/p>\n<p>The youngster, now six-months-old, was diagnosed with hereditary retinoblastoma, caused by a change in his RB1 gene.<\/p>\n<p>Only around 44 children are diagnosed with retinoblastoma every year in the UK.<\/p>\n<p>Catching the cancer early is crucial to save the sight of affected children.<\/p>\n<p>When there is no known family history of the disease, the cancer often goes undetected until later when the disease has progressed.<\/p>\n<p>\u201cThere were no signs that anything was wrong \u2013 he was a normal little baby, so the results came totally out of the blue,\u201d said Mrs Underhay.<\/p>\n<p>Within four days of finding the genetic abnormality Freddie was seen by experts at Birmingham Children\u2019s Hospital, where a a tumour was found.<\/p>\n<p>Freddie was given a combination of laser treatment and chemotherapy and his doctors are hopeful they can save his vision.<\/p>\n<p>Mrs Underhay, 36, told the PA news agency: \u201cThey said we are incredibly lucky to have caught it this early.<\/p>\n<p>\u201cIt was such an amazingly quick turnaround.\u201d<\/p>\n<p>She said that the couple had spoken to other families of children with the same condition who spent months and months trying to get a diagnosis.<\/p>\n<p>Mr Underhay, 37, said: \u201cOur decision to join the Generation Study has changed Freddie\u2019s life phenomenally.<\/p>\n<p>\u201cWe were told that the first six months is vital in diagnosing and treating the condition.<\/p>\n<p>\u201cThere\u2019s no telling at what point it would have been discovered if we hadn\u2019t taken part and what might have happened.<\/p>\n<p>\u201cThe care that Freddie has received, and us as parents as well, has been second to none. We can\u2019t thank everyone enough for all that they\u2019re doing for Freddie.\u201d<\/p>\n<p>He told PA: \u201cIf we had not taken part in the study there could have been a completely different outcome<\/p>\n<p>\u201cHe was just a normal little baby, you would have not known there was anything wrong with him.\u201d<\/p>\n<p>Mrs Underhay added: \u201cWe\u2019re hopeful that this kind of testing will be readily available to any parent who wants it for their child in the future.\u201d<\/p>\n<p>Dr Joe Abbott, Freddie\u2019s ophthalmologist, said: \u201cThe chances of protecting Freddie\u2019s eyesight have been greatly improved by finding out about his eye tumours earlier, thanks to the family participating in the Generation Study.\u201d<\/p>\n<p>The research project, led by Genomics England in partnership with <a href=\"https:\/\/www.independent.co.uk\/topic\/nhs-england\" rel=\"nofollow noopener\" target=\"_blank\">NHS England<\/a>, is available at 51 hospitals in England.<\/p>\n<p>The study will help identify more than 200 rare conditions which causes a progressive loss of physical and mental skills.<\/p>\n<p>By detecting these rare genetic conditions sooner, experts say hundreds of children could benefit from earlier diagnosis and treatment that could help slow progression of the disease or extend their lives.<\/p>\n<p>At the moment, these conditions can be hard to diagnose, leading to delays in care.<\/p>\n<p>Whole genome sequencing provides a readout of a person\u2019s entire genetic code and looks for changes that relate to specific health conditions.<\/p>\n<p>The Generation Study, which was launched in 2024, screens for these conditions in babies who appear healthy but whose symptoms may not become apparent until later in life.<\/p>\n<p>The findings of the study will help inform the Government\u2019s long-term ambition to offer genomic sequencing to all newborns as part of routine care.<\/p>\n<p>It will generate evidence on whether and how whole genome sequencing should be offered to every baby as part of screening for rare genetic conditions at birth, alongside the existing heel prick test \u2013 which looks for 10 rare but serious conditions.<\/p>\n<p>So far, over 20,000 families have joined the study and more than 60 \u201ccondition suspected\u201d results have been returned by Genomics England to the NHS for confirmatory testing.<\/p>\n<p>Dr Rich Scott, chief executive of Genomics England, said: \u201cWe believe genomics can transform healthcare in this country and be used to get ahead of serious illness.<\/p>\n<p>\u201cIt\u2019s been incredibly moving to see the life-changing impact the Generation Study is having for families like Freddie\u2019s, who have been able to access treatment that makes a world of difference soon after being born.<\/p>\n<p>\u201cEvery year thousands of babies are born in the UK with rare genetic conditions, but they can be hard to diagnose.<\/p>\n<p>\u201cOn average, it takes around five years for a rare condition to be diagnosed, at which point it has often progressed to the point where treatment, if it exists, is far less effective.<\/p>\n<p>\u201cWe\u2019re fortunate the UK is uniquely placed to test and \u2013 if the evidence supports it \u2013 roll out genomic innovations that help us move towards preventing sickness, not just treating it.<\/p>\n<p>\u201cThe Generation Study is an example of just that \u2013 a national-scale research study developing evidence to inform whether every baby should be offered genomic sequencing. It\u2019s an important step towards a future of healthcare that is more preventative, with genomics playing a key role in that throughout someone\u2019s life.\u201d<\/p>\n<p>Professor Dame Sue Hill, chief scientific officer for England, said: \u201cToday\u2019s announcement is a major step forward for the NHS in the use of whole genome sequencing in newborns.<\/p>\n<p>\u201cFreddie\u2019s amazing story highlights the strength of our world leading partnership with Genomics England, showing it is possible to identify rare genetic conditions like these earlier so children can start treatment faster meaning they have the best chance of a cure.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"Your support helps us to tell the story From reproductive rights to climate change to Big Tech, The&hellip;\n","protected":false},"author":3,"featured_media":309302,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[26],"tags":[815,159,67,132,68],"class_list":{"0":"post-309301","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-united-states","11":"tag-unitedstates","12":"tag-us"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@us\/115386510639649022","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/309301","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/comments?post=309301"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/309301\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media\/309302"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media?parent=309301"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/categories?post=309301"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/tags?post=309301"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}