The birth of a first child should be one of life’s most joyous milestones – a blur of first smiles, tiny fingers and proud new parents watching every precious moment unfold.
But for Ben and Natalie Lewis, that dream turned into a nightmare within hours of their son, Noah, entering the world.
Noah, born in 2022, was rushed to intensive care almost immediately – in what would be the start of a relentless and heartbreaking medical battle for his parents that would stretch on for two agonising years.
Now aged three, Noah has spent much of his young life in and out of hospital, as his desperate parents fought for answers while watching him fall further behind other children his age.
As a toddler, he could not crawl, suffered repeated infections, and showed worrying signs of low muscle tone.
Yet when Mr and Mrs Lewis, who struggled to ignore their son’s ailments, raised these issues with physicians, they were told to wait for further investigations and reassured developmental delays can resolve themselves in young children.
It wasn’t until a routine check-up, when Noah was two, that alarm bells were finally raised. A doctor made a shocking discovery: the toddler had a spleen the size of an adult’s.
Just weeks later, in September 2024, came a devastating diagnosis – Noah had Niemann-Pick Disease Type C1, an ultra-rare, life-limiting genetic disorder that progressively destroys the brain, nerves and vital organs.
Noah Lewis (pictured) is living with Niemann-Pick Disease, an ultra-rare, life-limiting genetic disorder that progressively destroys the brain, nerves and vital organs
Speaking to the Daily Mail, Mr Lewis, a building maintenance director, told how he and his wife’s quiet fears grew into something impossible to ignore – and ultimately life-changing.
He said: ‘Noah was born on 6th October 2022 at 37 weeks, weighing just 5lb 4oz.
‘His arrival should have been a time of joy, but within hours he developed jaundice and was taken to the paediatric intensive care unit, where he spent his first days under ultraviolet treatment.
‘Once home, Noah struggled to gain weight and feeding became a constant concern. His development didn’t seem to follow the path of other babies, either. We were in frequent touch with local doctors.
‘At first, we tried to reassure ourselves that everything would be okay. But as the weeks turned into months, a quiet worry began to grow despite being advised that everything was likely normal.
‘By the time Noah reached six to eight months old, the differences became harder to ignore. His movements appeared restricted, his body seemed weak, and he showed signs of low muscle tone.
‘Watching other children in play groups learn to crawl, pull themselves up and explore the world was both hopeful and heartbreaking. But we couldn’t help but feel that something wasn’t right.
‘Noah wasn’t progressing.’
Noah’s parents Ben (left) and Natalie (center) repeatedly raised concerns with local doctors about their son, however, were told to wait until Noah (right) turned two before further investigations would be carried out
Despite repeatedly raising concerns with local doctors, the couple say they were told to wait until Noah turned two before further investigations would be carried out.
But their doubts never went away.
Mr Lewis said: ‘Determined to help our son, we arranged physiotherapy, hoping strength and confidence would come with time. Instead, progress was painfully slow.
‘Noah began to crawl awkwardly, remained physically fragile, and by the age of two his speech was still extremely limited.
‘Then, our fears deepened. Between February and May 2024, Noah suffered repeated flu-like illnesses and chest infections.
‘During this time, he began to collapse while crawling – moments that left us terrified and searching for answers. Gradually, Noah lost the ability to crawl entirely.
‘He has never crawled again.’
The turning point came during what should have been a routine appointment.
Noah (pictured) was rushed to intensive care almost immediately after being born – the start of a relentless and heartbreaking medical battle for his parents that would stretch on for two years
Mr Lewis said: ‘In July 2024, during what was meant to be a routine check-up, a doctor made a discovery that would change everything. Noah had an enlarged spleen.
‘An urgent ultrasound confirmed the shocking reality: his spleen was as large as that of an adult, a sign pointing towards a rare lysosomal storage disorder.
‘We were thrust into a world of genetic testing, hospital appointments and unbearable uncertainty.’
After a series of genetic screenings, the couple’s worst fears were confirmed.
Mr Lewis said: ‘In September 2024, the results came back. Noah had an unknown variant of the NPC1 gene, confirming Niemann-Pick Disease Type C1 – a rare, progressive neurological disorder.
‘We had never even heard of Niemann-Pick Disease.’
Niemann-Pick Disease Type C1 is a rare genetic condition that prevents the body from properly processing cholesterol and fats, leading to devastating damage over time.
For Noah, it has already affected nearly every aspect of his life – physically, neurologically, and cognitively.
It wasn’t until a routine check-up that doctors made a shocking discovery – Noah (pictured) had a spleen the size of an adult’s
Mr Lewis said: ‘Noah is going as well as can be, meeting each new challenge with the same strength and gentle resilience that has always defined him.
‘But since May 2025, following a stay in intensive care for respiratory failure he, has been using a nasal feeding tube for his fluids, food and medications, and although it has been a big change, he has adapted with his usual quiet bravery.
‘He is now waiting to have a Percutaneous Endoscopic Gastrostomy, or PEG, fitted.
‘This is a procedure that places a feeding tube directly into the stomach through the abdominal wall, allowing nutrients, fluids and medicines to be delivered safely and comfortably.
‘It is used for long-term nutritional support when eating or swallowing is difficult, and it will make daily care far easier for him.’
But the challenges facing the family are not just medical.
Many of the specialist therapies, equipment and home adaptations Noah urgently needs are either unavailable or subject to long delays – forcing his parents to launch a major fundraising effort.
With a target of £250,000, they are racing against time to give their son the best possible quality of life.
Noah’s parents have launched a fundraiser to give their son (pictured) the best possible quality of life
Mr Lewis said: ‘Many of the essential resources that Noah needs to remain safe, comfortable and engaged are either not available through the NHS or are subject to very long waiting times.
‘As Noah’s condition is progressive and incurable, it is critical he has timely access to appropriate equipment and therapies to delay deterioration and reduce pain.
‘Noah is entirely dependent on adults for mobility, communication, feeding and emotional regulation. The specialised nature of his needs requires bespoke equipment tailored specifically to him.
‘Fundraising will allow Noah access to the equipment, therapies and safe environments he needs now to ensure that his care remains stable – with specialised equipment costing in excess of thousands of pounds per item.
‘We are now living with a future filled with uncertainty – holding onto hope while facing the daily realities and lengthy hospital admissions of a condition that continues to change our lives.’
And yet, despite the challenges the toddler faces daily, Mr Lewis says Noah remains a source of light for his family.
He said: ‘From the very beginning, Noah has been a bright little soul, the kind of child whose smile arrives before you even realise you are looking for it.
‘Living with NPC1 has never dimmed the joy he brings into every room. He has always been a giggly, happy boy, full of soft chuckles that seem to bubble up from somewhere wonderfully pure.
‘His soft toys are his constant companions, tucked under his arm or gathered around him.
‘His days are still filled with cuddles, his favourite TV shows and the little comforts he loves, and he remains the heart of our family’s world.
‘Even on the tougher days, his gentle spirit and infectious happiness remind everyone around him of the beauty in small, everyday moments.
‘But through our heartbreak, we are determined that Noah’s story will not be silent.
‘We just want people to understand. To know this disorder exists. And to give Noah the love, support and life he deserves.’
