Brave Inaaya thriving thanks to ‘world first treatment’ and support from our Children’s Hospital for rare condition
A brave seven-year-old from Birmingham with a life-threatening rare, and at one-time fatal, genetic condition is now thriving after a ‘world first’ new enzyme treatment received at our Children’s Hospital.
Inaaya Shabbir from Sheldon has Wolman’s Disease, a condition that unless treated rapidly, causes multi-organ damage, leading to death in early infancy.
It occurs in around one in 350,000 births and is a type of lysosomal acid lipase deficiency, which causes a build-up of fat in cells in the liver, heart, blood vessels and digestive system.
Symptoms in babies include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhoea, developmental delay, anaemia and malabsorption.
However, due to Sebelipase alfa, a recombinant enzyme replacement therapy, which works by replacing the deficient enzyme, Inaaya has gone well beyond the years predicted for her when she was diagnosed.
No child with this condition had previously survived beyond six months of age before this new treatment was developed. Now, children can be expected to have normal development and their life expectancy is likely to be comparable to that of the general population.
A commercial deal struck by NHS England in November has recommended Sebelipase alfa for use on the NHS in final draft guidance by the National Institute for Health and Care Excellence (NICE).
Inaaya’s mum, Amber Khan, said: “When Inaaya was diagnosed it felt like my whole world was breaking down.
“When I had her, I’d already had a son who was healthy and there were less than two years between them, so I didn’t know what was going wrong, but after a week I noticed her belly was big, but her arms and legs were small.
“When we were on the hospital ward, a kind member of staff spoke to me and I told her about Inaaya’s three aunties on her father’s side who all passed away from the same disease. She said she would check the notes and see what that was, which is how they found out.
“She came back and told me she had Wolman’s and to not look at it online. I did and told my mum, all it talked about was death. I was scared. The team took Inaaya for a blood transfusion and I was told I’d get a call from a consultant at the Children’s Hospital.
“Dr Santra called and talked me through the treatment. I could either take her to try the treatment or take her home and let nature take its course. She started treatment after a few days.”
Little did Amber know but she was in the right place.
Birmingham Children’s Hospital was one of the centres pioneering the treatment, alongside the Royal Manchester Children’s Hospital, and one of the few in the world that had seen multiple patients with this rare condition.
Dr Suresh Vijay, Consultant of Clinical Paediatric Inherited Metabolic Disorders at Birmingham Women’s and Children’s NHS Foundation Trust, led the study. He said: “Until around 2014 there was no treatment at all for Wolman’s and all affected babies would show symptoms in their first few weeks to months of life. Sadly, none would survive longer than three or four months old.
“Now we have children who are living around Inaaya’s age and older, so it has been a huge development.
“The enzyme these children lack helps break down fat, which is what causes the liver and spleen to enlarge. They get it replaced through a drip for around two to four hours once a week, so they go on to have a good quality of life.
“We only tend to see one new diagnosis per year. Our centre in Birmingham, and the one in Manchester, are the most experienced working on this condition and are the few clinics in the world to look after more than one patient.
“We’re so pleased that this treatment is now available on the NHS and we’re excited to see the progress that patients, like Inaaya, will make.”
Amber continued: “I was nervous to come to the Children’s Hospital. You don’t know what may happen next. The oldest child in the world with this condition is only 13, but Inaaya is doing well on it - she literally lives a normal life.
“She is so amazing, nothing can phase her. She is so selfless, she can’t eat chocolate and sweets, but she would happily give sweets out to everyone in her class, even knowing she can’t have them. I’m so lucky to have her.
“The Children’s Hospital is the best hospital in the world for me, there’s nothing they won’t do for you. If she didn’t have this drug, I don’t know what would happen.
“I’m so happy she is as well as she is.”