In a story that speaks to the miraculous advancements in medicine and the power of hope, a seven-year-old girl from the UK has become the first known patient to receive a groundbreaking treatment for a rare and fatal condition—Wolman’s Disease. The treatment, now available through the National Health Service (NHS), has transformed what was once a death sentence into a story of survival and courage.
Inaaya Shabbir, a bright and resilient young girl, is believed to be the first person in the world to receive Sebelipase alfa (Kanuma®), a newly approved enzyme replacement therapy for Wolman’s Disease. Before this treatment, the life expectancy for children born with the condition was tragically short—just six months, according to BirminghamLive.
Wolman’s Disease is a rare form of lysosomal acid lipase deficiency that severely affects the liver, spleen, and digestive system. Without the necessary enzyme to break down fats, infants with this disease experience poor weight gain and enlarged organs, leading to rapid deterioration. It affects approximately 1 in 350,000 births.
Inaaya’s mother, Amber, shared her heartbreak upon learning of the diagnosis: “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 was 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.”
Amber recalled the moment they first suspected a genetic condition. A nurse gently listened to her family’s history and made the connection: “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.” (according to BirminghamLive)
But God had another plan.
Thanks to a commercial deal struck by NHS England in November of last year, Sebelipase alfa became accessible to patients on the NHS for the first time. The therapy, combined with a specialized low-fat diet, works by replacing the missing enzyme in the body and is delivered through weekly intravenous infusions—often administered in the comfort of the patient’s home.
Dr. Suresh Vijay, Consultant of Clinical Paediatric Inherited Metabolic Disorders at Birmingham Women’s and Children’s NHS Foundation Trust, led the pioneering study. “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,” Dr. Vijay told BirminghamLive.
He added: “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.”
The treatment represents a powerful reminder that scientific progress can be a profound act of mercy. As Catholics, we recognize that every life is sacred, no matter how rare or fragile. Inaaya’s story is not just a medical milestone—it is a celebration of life, hope, and God’s providence working through human hands.
Hospitals in Birmingham and Manchester are now among the few in the world experienced in treating this condition, offering families a lifeline they never imagined possible. Dr. Vijay expressed his hope for the future: “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.” (according to BirminghamLive)
Inaaya’s journey is a testament to the sanctity of life and the importance of continued research and compassionate care for even the rarest conditions. In moments like these, we are reminded of Psalm 139:14—“I praise you, for I am fearfully and wonderfully made.”
May her story inspire us to support medical advancements that uphold the dignity of every human life and to pray for the children still awaiting their own miracle.
