Babies born with fatal genetic Wolman disease to receive life-saving NHS treatment for first time

Babies with Wolman disease don't typically make it to their first birthday if they don't receive treatment. Credit: PA

Babies and toddlers with a rare and fatal genetic condition, Wolman disease, will be able to receive life-saving treatment on the NHS for the first time.

Sebelipase alfa (Kanuma) is an enzyme replacement therapy and it will be the first treatment available on the NHS for the disease, which affects children under the age of two.

Wolman disease is fast-progressing and life-threatening, and occurs in around one in every 350,000 births.

It causes a build-up of fat cells in the liver, heart, blood vessels and digestive system, which in babies can cause an enlarged liver and spleen, struggles with weight gain, vomiting and anaemia.

Jabran Nawaz, whose son was diagnosed with Wolman disease at three months old, said his child would not be alive today if it was not for the treatment.

"Thanks to the treatment, Hashir turned eight last month and is able to live a normal life.

"This medicine has made a huge difference to our lives, and we are incredibly grateful to the clinicians and the hospital for Hashir’s treatment,” he said in an NHS statement.

Hashir started sebelipase alfa treatment as part of a trial, and then continued the therapy via a compassionate access scheme.

Clinical expert Professor Simon Jones said he was pleased that the NHS has reached this outcome.

"This is an incredibly effective drug and quite literally, is life-saving," he said in a MPS Society statement.

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There were previously no treatment options for Wolman disease available on the NHS, and care was typically limited to managing symptoms.

Without treatment, infants with Wolman disease do not usually live to the age of one.

The enzyme replacement therapy works by replacing an enzyme the body is missing, alongside a low-fat diet.

Patients are given weekly intravenous infusions which can be done at home, and some people may also have a blood and stem cell transplant.