A New Malden couple whose toddler son might not live to see his second birthday because of a rare genetic condition are petitioning to make available a drug that could save the lives of future sufferers.

Surrey Comet:

Vinnie was diagnosed with SMA at just nine weeks old

Kelly Harrison and Luke James’ son Vinnie was diagnosed with type one spinal muscular atrophy (SMA) aged just nine weeks.

Vinnie has the most serious form of the disease which causes his muscles to stop working and eventually he will be unable to swallow or breathe on his own. He was predicted not to live past his first birthday.

Ms Harrison, 33, managed to get her son into a trial for Nusinersen (IONIS-SMNRx) – a new drug, as yet unproven, that is designed to alter the gene causing SMA and increase production of muscle-building protein.

This means SMA sufferers can build working muscle.

Some patients in the trial have taken unaided steps during the testing phases, a feat unthinkable for most with SMA type 1.

Ms Harrison wants to bring Nusinersen, which is in its third round of trials, to the public’s attention in the hope that it will mean it becomes available to all SMA sufferers.

She said: “The drug has had amazing results bringing back motor function with no side effects.

“Vinnie had already started to show the signs of SMA when he got on the trial and, we don’t know, he might be on the placebo.

“For him, this is about giving him a longer life and a better quality of life. If this drug was available that might be open to him.

“Vinnie is on ventilators and has a feeding tube. Looking after him is a 24-hour job but he is a very happy baby.”

Doctor Basil Darras, director of clinical neurology at the Boston Children’s Hospital and Harvard Medical School, told a drugs conference last year:

“Children with SMA are bright and engaging, but due to progressive muscle weakness, grow weaker over time.

“Because of the inevitable gradual decline that patients with SMA exhibit, I am encouraged with the consistency of the muscle function scores in these children.

“Not only do these children experience increases in muscle function scores but it appears that these increases can be sustained for a significant time.”

Both Ms Harrison and Mr James, who also have a healthy six-year-old daughter, did not know they were carriers of the SMA gene until their son was diagnosed.

They have thrown their support behind a petition to Parliament to make Nusinersen available to terminally ill children.

It needs 10,000 signatures to gain a response and currently has just under 4,400 supporters.

Ms Harrison added: “We really want to reach the people who have children with the (less serious) type two SMA who might be a bit more relaxed. This drug can really transform lives.”

The trials, run by manufacturer Ionis Pharmaceuticals, started almost two years ago.

After the first set of results were published Doctor Richard Finkel, division of neurology, department of paediatrics at Nemours Children’s Hospital, said: “[They] form an encouraging profile of a potential new therapy for patients with SMA.”

Lynne Parshall, Ionis chief operating officer at Ionis Pharmaceuticals, said: “We are committed to advancing Nusinersen toward the market as rapidly as possible.”

The petition can be viewed HERE