Sebastian was the sixth child in England to receive a gene therapy for SMA.
Sebastian was a healthy baby, but when he was three months old his weight started to drop. The health visitor wasn’t concerned, but his Mum, Dharmisha, couldn’t shake the feeling that something wasn’t right.
“The health visitor told me to increase the amount of fat I was eating to help my breast milk, but my instinct told me that wasn’t the issue.”
The initial doctor they saw wasn’t worried about Sebastian’s weight and was about to send them home, when Dharmisha asked him about his head and neck strength.
“At that point, the doctor started to check him out in more detail, and I could see the alarm bells starting to ring.”
The doctor referred them to a neonatologist, but it was a bank holiday weekend so they had to go home and wait.
“I couldn’t sleep. I knew it was something terrible.”
After a series of appointments, doctors told Sebastian’s parents that they thought he had Spinal Muscular Atrophy and ordered a genetic test to be sure.
Spinal Muscular Atrophy (SMA) is a severe and progressive neuromuscular disorder which is caused by genetic mutations or deletions to the SMN1 gene. Symptoms are often seen in children from an early age when they appear to be ‘floppy’ with muscle weakness. They can have difficulty sitting up and crawling and often find breathing or swallowing a challenge.
The genetic test confirmed the diagnosis. Sebastian had SMA Type 1 which is the most severe form of the condition.
“I was hysterical. I thought my son was dying even though he looked healthy.”
The doctors suggested that they consider a gene therapy. It’s a one-off treatment that delivers a working copy of the SMN1 gene into the patient, which enables the body to replace the faulty gene. It cannot reverse any damage that may already be done, but it can prevent further deterioration.
Sebastian was the sixth child in England to receive a gene therapy for SMA.
“He’s done remarkably well. He has physiotherapy twice a week and they think he might even be able to walk at some point.”
Now aged 5 years old, Sebastian is in mainstream school and is a big brother to Alex who was born 14 months ago.