"We knew something wasn’t right — but nothing could prepare us for watching our child slip away"

A family has shared the devastating reality of living with a rare genetic disease after their young son was diagnosed with a life-limiting neurological condition that doctors say has no cure.

Noah was born in October 2022 at just 37 weeks, weighing 5lb 4oz. His parents remember the moment they first held him — a mixture of overwhelming love and quiet relief that he had arrived safely.

But within hours, that relief turned to fear. His tiny body began to show signs of jaundice and he was rushed into the paediatric intensive care unit, spending his very first day of life under ultraviolet lights while doctors worked to stabilise him.

They were told it was not uncommon. That everything would likely be fine. They wanted to believe it. But as weeks turned into months, an unspoken worry settled into daily life.

Noah struggled to gain weight. Feeding became exhausting. His development felt uncertain. Milestones that should have brought celebration instead brought quiet comparison and growing concern.

By the time he was six to eight months old, the differences were impossible to ignore. His movements were weak. His body seemed fragile. Signs of low muscle tone became increasingly apparent.

Watching other children at playgroups learn to crawl, stand and explore the world became an emotional contradiction — filled with hope, but also with a deep and growing heartbreak.

Doctors advised patience. Developmental delays can sometimes resolve with time, they explained. But instinct told his parents this was something more.

Determined to help their son, they began physiotherapy, clinging to the hope that strength would come. Instead, progress was painfully slow. Noah eventually learned to crawl, but awkwardly. He remained physically vulnerable, and by the age of two his speech was still very limited.

Then came the moment that would change everything.

In July 2024, during what was meant to be a routine appointment, doctors discovered Noah’s spleen was dangerously enlarged. An urgent ultrasound confirmed the shocking reality — it was the size of an adult’s. The family were suddenly plunged into a world of genetic testing, hospital corridors and unbearable uncertainty.

In September 2024, the diagnosis arrived. Noah had an unknown variant of the NPC1 gene, confirming Niemann-Pick disease type C — a rare, progressive neurological disorder that prevents the body from processing fats and cholesterol, causing irreversible damage to the brain and nervous system. They had never heard of the condition before.

Like many families facing rare disease, they turned to the internet searching for reassurance. Instead, they found devastation. There is no cure.

Following the diagnosis, Noah’s health began to deteriorate further. Between February and May 2025, he suffered repeated infections that left his body increasingly weak. He began collapsing while trying to crawl — terrifying episodes that left his parents living in constant fear. Gradually, he lost the ability to crawl altogether.

Then, in early May 2025, the family faced their darkest moment yet. Noah suffered respiratory failure and was rushed to the paediatric intensive care unit. For two days, doctors fought to stabilise him while his family kept a constant vigil by his bedside, unsure whether he would survive.

He remained in hospital for a further three weeks. When he finally came home, life had changed forever. Since that time, Noah has never crawled again.

Now his family live with a future defined by uncertainty — navigating hospital appointments, complex care needs and the emotional weight of knowing their child’s condition will continue to progress.

Yet through unimaginable heartbreak, they are determined that Noah’s story will not be one of silence.

They want awareness. They want understanding. They want hope.

To support Noah and his family, please take a look at his fundraising page here: https://www.treeofhope.org.uk/get-involved/childrens-campaigns/tinies/ 

Article written by Noah's Family