Siblings with different rare diseases now thriving thanks to expert care from medics
Parents Jade and Scott Page are living a rare reality – two of their four children have been diagnosed with entirely different rare diseases.
After noticing unusual movements in their daughter Ava-Rose, she was diagnosed with Opsoclonus Myoclonus Syndrome (OMS), a very rare autoimmune disorder, also known as Dancing Eye Syndrome, affecting as few as one in 10 million people per year.
And when Ava-Rose’s little brother Frankie was born – he was diagnosed with hypoplastic left heart syndrome, a severe heart defect which affects one in 5,000 children in the UK and Ireland.
Reflecting on their journey, full-time Mum Jade, from Solihull, said: “Our story is quite extraordinary - its thought that Frankie and Ava-Rose’s conditions aren’t genetic, we are a very unique family!”
Both children receive care from specialist teams at Birmingham Children’s Hospital (BCH).
Looking back on Ava-Rose’s diagnosis, Jade, added: “Ava-Rose was always a happy, curious child but one day, it was like her whole personality had changed.
“She stopped walking with me round the house and I knew as her mum something wasn’t right. Then I noticed she was starting to twitch in her sleep.”
Jade took her to their local A&E, where she underwent scans and tests and she was told by doctors Ava-Rose had a tumour on her spine.
The youngster was rushed to see experts at BCH, where she was further diagnosed with OMS at one years old, thought to be triggered by her tumour.
Dr Murugan Velayutham, Consultant Paediatric Neurologist at BCH, explained: “OMS is a rare neurological disorder of unknown cause which appears to be the result of an autoimmune process involving the nervous system. It is an extremely rare condition. It affects only two to three per cent of children with neuroblastoma.”
OMS can cause unsteadiness, jerky movements and rapid involuntary eye movements.
Jade explained: “Ava-Rose underwent surgery to have the tumour removed. Her tumour was monitored for three years following this surgery, after which scans revealed the tumour had completely gone away – it was a miracle. We can’t thank the surgeons enough.”
Following care and treatment from the Oncology and Neurology teams at BCH, Ava-Rose, now aged six, is thriving.
She shared: “She’s improved so much and we’re so proud, she’s even joined a gymnastics club. She’s come such a long way.”
Jade continued: “Once we were in a better place with Ava-Rose, we decided to have more children and another miracle has happened - we were gifted with triplets.
“They were closely monitored at Birmingham Women’s Hospital and during scans we found out that one of the babies, Frankie, had something wrong with his heart.”
After the triplets were born under C-section, Frankie was admitted to the Neonatal Unit before being referred to the specialist Cardiology Unit at the Children’s Hospital.
Jade explained: “The Consultant sat us down and said, ‘I’m really sorry to tell you, but your child has a condition called hypoplastic left heart syndrome.’”
It’s a life-threatening heart defect, which meant half of Frankie’s heart had not developed properly. He also has pulmonary stenosis and a hole in the heart.
She shared: “It was very difficult to take in. We had already gone through so much with Ava-Rose and I had just given birth to triplets, so it was all very overwhelming.
“Luckily, we had a brilliant support system who helped us with the kids while me and my husband Scott spent time in hospital with Frankie. We also got to stay in Ronald McDonald House so we could be close to him.”
Frankie was admitted to the Paediatric Intensive Care Unit (PICU) at BCH and intubated before he underwent his first major surgery as a baby in 2022.
Jade explained: “We knew the risks of the procedure, but it was the best chance for him.
“However, our worst nightmare happened when Frankie went under cardiac arrest during recovery. The PICU team kept us updated throughout and eventually told us that the team managed to bring him round.
“It’s hard to explain how we felt when we heard those words. We were completely overwhelmed with relief – his life was saved by the teams. Thank you will never be enough.”
Following another 60 days on PICU, Frankie moved to ward 11. He then had another open-heart surgery in 2023. He was in hospital for the first 11 months of life.
Jade shared: “He is being closely monitored by the team to assess what the next steps are but we are hopeful for the future.
“We are celebrating Frankie and his brother’s third birthday on Saturday – he is doing so well he is such a happy boy who loves visiting the hospital. The staff here are like his best friends and it’s become a second home for us.”
Reflecting on their journey, Jade added: “We are deeply grateful to the teams at Birmingham Children’s Hospital for caring for our children – they saved their life and we’ll forever be thankful.”
Dr Anna Seale, Consultant Paediatric Cardiologist, said: "Frankie has been on an incredible journey. It has been a pleasure to see him grow, develop and enjoy his life with his parents, brothers and sister."
Photo: Frankie (bottom right) with his brother Finnlie (top) and Archie (left)