A baby has become one of the first to be given a potentially life-saving drug on the NHS for a devastating spinal condition.
The parents of three-month-old Riley Cadle-Birch were told he had a severe form of spinal muscular atrophy, which causes progressive muscle weakness, loss of movement and difficulty breathing.
Babies suffer progressive muscle weakness, loss of movement, difficulty breathing and without a new drug - dubbed the most expensive in the world - have a life expectancy of just two years.
The Mirror reported last month how five-month-old Arthur Morgan became the first in England to get the pioneering gene therapy Zolgensma that has a list price £1.8million per dose.
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Riley underwent the same treatment at Bristol Royal Hospital for Children on June 30.
Mum Jade Cadle-Billingham said: “We’ve been on a really rocky road with Riley, with him being so ill at times we weren’t sure if he would make it.
“When we started to suspect he may have SMA, I began researching the condition and came across Zolgensma, which at the time had only been announced as approved by the NHS, but we didn’t yet know where it would be available or if Riley would be able to have it.
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“We want to do anything we can to raise awareness of this life-changing treatment, and to give hope to other SMA families going through the same thing.
“Having this treatment is like giving him his future.”
The one-hour intravenous infusion works by providing a functional copy of the gene known as SMN1, which the body needs to make a protein that is essential for the normal functioning of nerves which control muscle movements.
Patients with SMA have a defective copy of this gene.
Zolgensma passes into the nerve cells and provides instructions to the body to produce the protein to restore nerve function.
About 40 babies are born each year with the more severe Type 1 form of SMA that would benefit from the drug.
University Hospitals Bristol and Weston NHS Foundation Trust (UHBW), which includes Bristol Royal Hospital for Children, is one of only four centres across the country administering the gene therapy.
The others are Manchester University NHS Foundation Trust, Sheffield Children’s NHS Foundation Trust and Evelina London Children’s Hospital.
Riley, from Gloucester, underwent the gene therapy infusion last week after responding well to another form of treatment for SMA called Spinraza.
Mum Jade first noticed something was wrong with Riley’s hand and a midwife also spotted some issues with his breathing.
He was taken to hospital for a series of tests to check his reflexes and was later diagnosed with SMA Type 1 before needing life support.
Dr Kayal Vijayakumar, consultant paediatric neurologist at Bristol Royal Hospital for Children, said: “I feel very privileged as part of this team to be in a position where we can now offer families this ground-breaking treatment.”
