Family of girl with crippling disease urge NHS to fund potentially life saving drug

Elsie Novell aged 3
Elsie Novell aged 3

The family of a Sutton girl diagnosed with a crippling disease is campaigning to get a potentially life saving drug available for her in the UK.

Elsie Novell, 4, has spinal muscular atrophy (SMA) type two, which means she is unable to stand or walk and, as the disease is progressive, most of her muscles will eventually waste due to a lack of use.

The chatty four year old has just started pre school but was unable to celebrate her recent birthday with her schoolmates because she developed breathing difficulties.

Her mum Charlotte says the family is hoping that a new drug from America which could treat Elsie’s condition will soon become available on the NHS for her.

Nusinersen, the only disease modifying treatment for SMA is currently only available for children with type one of the disease on the NHS.

The UK has just rolled out its expanded access programme for the drug for type one.

Charlotte said: “Type one is a more severe form where life expectancy is about two years from birth.

“New born babies diagnosed with SMA type one are put on the drug straight away. Elsie has already grown and it won’t immediately make her better, but there is a good chance it will stop the condition giving her life a limit and eliminate the respiratory issues she has.”

The family has written to MP Gloria De Piero and Health minister Jeremy Hunt for Nusinersen to be approved for Elsie’s condition.

The drug is administered via a lumber puncture into the spinal cord and can stop the condition progressing.

Charlotte said: “When Elsie was diagnosed they said there was no hope, but just last Christmas the drug was approved in America. It is a cost thing - if the NHS don’t approve it it won’t be any use to us.

“But while there is hope we can keep her strong.

“Elsie was four on Saturday , but we had to cancel her birthday party because she was unwell.

“As soon as Autumn comes it gets into her chest and she can hardly breathe.

“She has started pre-school at Mapplewells and she is doing really well . she spends three hours in the afternoon and she can use her powered chair to get around.

“Academically she is flying.

“She invited 25 children to her birthday party and it took me ages to call them all to say it was cancelled. She’s not a wallflower she’s a very chatty little girl.

“She has lots of machines at home and we are very lucky in Nottinghamshire to have a rapid response team, which operates mainly out of the Queen’s Medical Centre who can come and help her to keep her out of hospital.

“They are in direct contact with the specialists.”

The family has raised more than £50,000 towards a house extension and aids for Elsie and are still fundraising to pay for hydrotherapy and sessions at Riding for the Disabled at Papplewell.

Charlotte said: “She has been doing that for a year and she loves it. It is very important to keep her mobile.”

Specialists at great Ormond Street Hospital have helped Elsie to walk using a frame .

Charlotte said: “We have no idea what she will eventually be able to do. The spectrum of her condition is so diverse but the bigger she becomes the more difficult it will be for her unfortunately.”