A Birchington mother has launched a petition to get treatment approved for her daughter’s fight against a debilitating disease.

Helena Russell has just had her first birthday but has been diagnosed with type 1 spinal muscular atrophy (SMA), a genetic condition which affects the nerves that control muscle movement, the motor neurons.

Helena’s mother, Charlotte, has since started a campaign to get compassionate use of the drug Nusinersen for all children battling SMA worldwide.

She said: “This treatment has proven safe and effective in over four years of clinical trials, and we are asking the European Medicines Agency and the FDA to put an end to unethical placebo use within current trials which would allow for compassionate use.

“Nusinersen increases the amount of SMN protein, which is lacking in people with SMA.

“The protein is produced by the back up copy of the unfunctioning smn 1 genes, called smn 2 genes.

“These genes are almost an exact copy of the smn1 genes, but, due to lacking one tiny part of the smn1 genes, they only produce about 10% of the functional protein. This drug alters that so more functional protein can be made from it.

“Despite my repeated attempts to raise my concern about Helena’s symptoms with health care professionals her SMA wasn’t diagnosed in time to enter the clinical trials for this drug.

“If she’d been diagnosed a month sooner, she may have been eligible for trial treatment in London.

“There are not any opportunities for trial treatment between the ages of seven months and two years.”

Charlotte first noticed signs of Helena’s condition shortly after the birth, noticing that she would not put any pressure on her front legs at six weeks old but was told by friends not to worry as children grow up differently.

“If she’d been diagnosed a month sooner, she may have been eligible for trial treatment in London..." Charlotte Russell

By the time her daughter reached six months Charlotte took her to the doctor, concerned that she could only move her ankles and not bear any weight on her legs.

She was sent away with concentration exercises for the muscles and it was only after several trips back to the hospital that she was sent to a specialist children’s hospital at St Thomas’s in London, two months later, for neurological assessment.

It was here that Helena received the diagnosis of SMA.

The petition has more than 500 signatures but needs more than 10,000 before it will receive a response from Parliament.

Visit her website for more information.