'It feels like a miracle': Halesowen toddler comes home after more than 600 days in hospital
A child with an extremely rare health condition has finally been reunited with his family at home, after spending nearly all of his life in hospital.
Noah, who is nearly two years old, has spent more than 600 days being cared for at Birmingham Children's Hospital.
His parents, Carly Martin and Reece Darke, were given devastating news when 21-year-old Carly was pregnant with their first child - that Noah had a rare genetic disorder called ATR-X Syndrome.
The condition, discovered only three decades ago, is the most profound case that has ever been documented in the UK.
Despite an agonising uphill battle, Noah is now at home in Halesowen with his family, and his mum and dad have both been inspired by the teams looking after him to become nurses.
Reece, aged 22, said: “We were overjoyed to find out we were pregnant with our first son Noah. For our first two scans, everything seemed fine, but on our third scan, we were told he had club foot in his left foot.”
Carly added: “It wasn’t a huge cause for concern, but on a follow-up scan, they found he had club foot in his other foot too. The doctors said it was very unusual, so he underwent testing.”
After various tests, Noah was eventually diagnosed with ATR-X Syndrome at the Queen Elizabeth Hospital.
Reece said: “It was difficult to hear. ATR-X was only recently discovered and there is not much research about it. We joined many ATR-X syndrome groups, but we soon found out that Noah had the most profound case that doctors in the UK have ever seen.”
After Noah was born at Birmingham City Hospital, he was incubated immediately. However, Noah’s condition deteriorated. He was quickly transferred to the Children’s Hospital to treatment.
Reece said: “From that day onwards, Noah has been in and out of intensive care, and has been in hospital most of his life.”
Noah’s complex condition means that he has faced many complications and serious health issues. He has been treated by multiple teams across the Children’s Hospital to help manage his illness.
Reece said: “He has been seen by what feels like every team in the hospital. He has become something of a hospital celebrity, everyone knows him, because so many people have helped care for him.”
Noah has a cleft palate and a chronic lung condition, which means he is at high risk of aspiration onto the lungs. He also has numerous problems with his heart and is on regular medication.
He has several other conditions, such as Dystonia, a neurological movement disorder, and gastroesophageal reflux disease, which means he has to be fed through a gastrostomy tube that goes straight into his belly.
He also has cerebral atrophy, which is the loss of neurons in the brain, which cause symptoms like dementia in children. He was also treated for meningitis at an early age.
His conditions have meant that Noah has had several respiratory arrests and a cardiac arrest, but thanks to Carly and Reece undergoing life support training, and the treatment of paramedics, nurses and doctors, he has made a recovery.
Carly explained: “It’s been a tough uphill battle and there have been times where we have had to make very difficult decisions.”
Reece added: “It’s very difficult at times, but Noah is our world and we have learnt so much in caring for him. It’s actually inspired me and Carly to train to become nurses.
"We would love to help other families who have gone through similar journeys.”
After five procedures, including a tracheostomy, Noah showed signs of improvement and was well enough to be discharged.
Reece said: “Noah is finally back home with us and it feels like a miracle. He will soon be two years old and in that time he has only been at home two months.
"But thanks to all the support of the doctors and teams at the Children’s Hospital, he is laughing and smiling and back home with us. We are over the moon.”
Carly added: “We just want to thank everyone in the hospital who has treated Noah, and that’s many people. Thank you especially to the nurses on Ward 7 they are all brilliant, and to our dietician Taylor-Ann, who has listened to us and given us so much support."
Reece said: “And we want to say thank you to the Neurology team and to the doctors and nurses on PICU. Mark Kempsell-Smith especially has been a huge support.”
Mark Kempsell-Smith, advanced nurse practitioner, who has been by the side of the family throughout, said: “It is amazing news that Noah is home. He has a complex diagnosis and due to his bravery, the support of a loving family and all of the healthcare professionals involved in his care, he is now home.
“Everyone in our Paediatric Intensive Care Unit (PICU) is so proud of the progress Noah has made. The bravery, care and support provided by his family has to be recognised and everyone on the PICU wishes them all the best for future.”
ATR-X syndrome was first described in the 1990s by Professor Richard Gibbons, a professor of clinical genetics, and Professor Douglas Higgs, Emeritus professor of haematology at the University of Oxford.
Prof. Gibbons said: “ATR-X syndrome is caused by a mutation that affects the X Chromosome in boys. Through years of testing and the help of many families, we identified the underlying gene, ATRX, that is affected in ATR-X syndrome.
“Thanks to this, we can now test to see who else in the family may carry the same mutation. We can even offer prenatal diagnosis, so that during pregnancy, we can identify if a baby carries the ATRX mutation.”
This prenatal diagnosis meant that Carly and Reece were told Noah’s condition before he was born, and treatment could start straight away.
Prof. Gibbons added: “The next steps in research for ATR-X syndrome is in the development of new effective treatments for the condition, to support families worldwide who are affected.”
