Sophia Hart of Loughton, who has Type 1 SMA, given lifelong promise from Biogen and Great Ormond Street Hospital she will be treated with drug Nusinersen

Sophia Hart, of Sedley Rise, Loughton, was diagnosed with Type 1 Spinal Muscular Atrophy (SMA) just before her first birthday, but NHS red-tape meant she was denied crucial treatment.

But Great Ormond Street Hospital (GSOH) has teamed up with pharmaceutical company Biogen to offer Nusinersen, the only drug which could help, for free to all children with the disease.

Sophia’s dad, Gennadiy, says it is the only thing that could keep his daughter alive.

Sophia sitting up and holding a cup - something doctors thought she'd never be able to do

READ MORE: Is it cheaper to bury our children than it is to treat them?

The 37-year-old said: “We were called to a meeting with other parents of children with the disease at GSOH and it was very tense, we had no idea what they’d say.

“When they told us the news there wasn’t a single dry eye. It was a relief and a very emotional meeting.

“The whole room breathed a sigh of relief. Parents had just been told their children would get a shot at life. Everyone was crying.”

Gennadiy added: “We’re in disbelief. My wife is in a state of shock and says she won’t believe this is real until Sophia gets the next dose. It’s been such a tough year, she doesn’t dare hope.”

Nusinersen cannot be funded on the NHS until the National Institute for Health and Clinical Excellence (NICE) release a report.
Until then, it is available for compassionate use to all Type 1 children under the Expanded Access Programme. 

Unable to wait, last February, Gennadiy and his wife, Sophia’s mum Victoria, took her to Paris for the first course of the treatment as part of an access programme.

Since then, she has shown “magnificent” progress and is learning to sit up and roll over on her tummy by herself for the first time.

But there was uncertainty whether she would be able to travel back to France, leaving little Sophia’s life in the balance.

The condition causes muscle weakness, a weak cry, difficulty in breathing, swallowing and sucking.

Mr Ilyashenko added: “She’s gaining new motor skills and doing things like rolling over which we always thought would be out of the question.

“She can sit in front of her books, feed herself and hold her own bottle. It’s so heartwarming to see that so now we’re focussing on the next step – getting her the treatment she needs.”

An NHS England spokesperson previously said: “NICE is carefully considering Nusinersen (Spinraza), and the drug company involved has been asked to share results on how well its product works as soon as possible."

The Guardian has requested further comment from the NHS.