A CHARITY has been launched to fund research and raise awareness after a baby died from a rare genetic disease.

Eight-month-old Noah Jordan, from Par, was taken for a check-up after his parents, Ben and Natasha, spotted yellowness in his eyes.

Noah seemed his usual happy, calm self but his parents thought they should get him checked by a doctor.

It was at a weekend and the local GP surgery was closed, so a call to 111 led them to the urgent care centre at Penrice in St Austell. From there, Noah was sent to Treliske Hospital in Truro and within hours it became apparent to the medical team that he was critically ill with acute liver failure.

Noah was transferred by ambulance to Birmingham Children’s Hospital where he was found to have a rare type of paediatric mitochondrial disease, often called Alpers-Huttenlocher Syndrome (AHS), which attacks the liver and brain, causing them to fail.

AHS is an inherited condition in which the body’s mitochondria fail due to a genetic mutation.

Noah continued to deteriorate and he died a month and a day after the yellowness was spotted in his eyes.

His family have now set up the Noah Jordan Foundation to fund research into this and similar conditions, to raise awareness among both professionals and the public, and to provide support for affected families.

Ben Jordan said: “He went from being a happy, healthy eight-month-old boy to being critically ill within 24 hours.

“It was the start of the weekend when my wife Natasha and I spotted yellowness in his eyes, so we called 111 for what we thought was possibly jaundice and were directed to the nearest urgent care centre. They then sent us to the local hospital in Truro where they promptly identified that Noah was critically ill with acute liver failure, but they didn’t know why. As a result, he was blue-lighted to Birmingham Children's Hospital where he was admitted into the specialist liver unit.”

Noah had scans and other tests but it was only when he started having seizures and developed hypoglycaemia that mitochondrial disease was mentioned. Subsequent tests confirmed that it was a rare type of disease.

Ben said: “On March 1 this year, only two weeks after noticing the yellowness in Noah’s eyes, we were told that due to the progressive nature of this disease, that he was going to die and that there were no available treatments or cure.”

By this time, Noah was extremely ill and reliant on a central line into a large vein in his neck to provide medication and a tube into his nose to provide fluids, so the long journey back to his Cornwall home was not possible. Instead, Ben and Natasha found a place to care for Noah at the Alexander Devine Children’s Hospice in Berkshire.

Ben said: “Noah had just one week at this absolutely incredible place and the amazing staff not only made sure Noah was comfortable but provided us with the opportunity to spend the limited time we had left with him making memories, spending time with him in the swimming pool, in music therapy, and with family and close friends.

“Noah died peacefully in our arms just before lunchtime on March 19.”

The target for the Noah Jordan Foundation is to raise £100,000 in its first year, to set up a research fellowship to find out more about Noah’s rare condition, with the aim of searching for better clinical management, possible treatments and eventually a cure.

Professor Robert McFarland, who serves as the charity’s medical adviser, said: “Noah’s condition is caused by a genetic ‘spelling mistake’ in POLG, a gene that encodes a protein essential for making and repairing mitochondrial DNA.

“Babies and young children with AHS have a short life. Noah had a fairly typical experience, the onset of the disease was relentless, attacking the liver and brain, causing liver failure, seizures and neurodegeneration.

“It is dreadful because up to that point there is often nothing to show that there is a major problem.”

Mitochondrial disease, often referred to as “Mito”, affects as many as one in 5,000 children. While the disease is relatively uncommon, POLG research could have a much broader impact in areas including Parkinson’s disease and ageing.

Family and friends have rallied round to provide help setting up the foundation, helping to create the branding, website, videos and other resources ahead of the charity’s launch.

The foundation’s logo, named the Mitosaur, was created by family friend and illustrator Tobias Hall. Inspired by Noah’s older brother Freddie’s love of dinosaurs, the design combines the shape of a dinosaur with the outline of a mitochondria.

The Noah Jordan Foundation slogan is: The extinction of Mito, one stomp at a time.

For more information or to support the Noah Jordan Foundation, visit www.tnjf.org.uk