THE father of a two-year-old Hillingdon girl with a devastating muscle-wasting condition is delighted at the news that people with spinal muscular atrophy (SMA) could gain access to vital treatment earlier than expected.

A proposed interim scheme with pharmaceutical company Biogen is now under consideration by the NHS.

However, charities are warning that, unless Spinraza is quickly made available, some patients could risk losing the ability to crawl, move, breathe and swallow.

Muscular Dystrophy UK and other SMA charities are urging NICE, the drug-licensing agency, the NHS and Biogen to implement the scheme as quickly as possible. 

Raul Guerra, 34, whose daughter, Sophie, 2, has SMA Type 2, said: “When Sophie was diagnosed, our world began to fall apart.  All the hopes and dreams we had for our little girl began to fade away.

“When we heard that NICE was starting a review for Spinraza, our spirits were immediately lifted.

“We know it’s not a cure, but it could give Sophie the chance to do the simple things that other children take for granted, like dressing up and playing on her bed. This would be the biggest blessing for my daughter.”

Treatment is only freely available to children showing symptoms of SMA before six months of age. Sophie is not eligible to receive it.

She was diagnosed in February last year and  her parents, Raul and Tammy, 30, felt hopelessly destroyed.

Spinal Muscular Atrophy is a rare, inherited neuromuscular condition that affects the lower motor neurons in the spinal cord.

It leads to the gradual loss of the ability to walk, crawl, move, breath and swallow.  It is a condition that requires complex medical support.

Raul and Tammy, noticed something was odd when Sophie suddenly stopped jumping on her bouncing play frame and refused to stand on her feet.

She would also sit hunched, which she never did before, and wouldn’t stretch her arms up to ask for Tammy to pick her up.

As the symptoms have progressed, Sophie has lost the fine motor skills she was just beginning to learn and develop. 

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She never learned to walk or crawl, but could shuffle and roll on the floor. Sophie was previously able to stretch her body, reach out and grab objects and stand on her feet.  Now, she has lost the ability to do all of these things.

As her muscles have weakened, she now has limited head control and her upper body strength has diminished so she cannot even manage to push herself on a wheelchair.

Sophie’s condition has taken a heavy toll on the family, particularly her mother, who has become Sophie’s full-time carer.

While Spinraza is not a cure, Sophie’s parents believe it would help to maintain or even improve, Sophie’s muscle strength.

They want Sophie to be able to do what other children take for granted, such as being able to splash around in the bath, dress up and move independently on her bed.

Raul and Tammy cling to the hope that, one day, a treatment will emerge that could help give Sophie a better quality of life.

Around 1,300 children and adults are living with SMA in the UK. Each year, more than 40 babies are born with the most severe Type 1. Without access to the drug, life expectancy is rarely longer than two years.

Some children, however, who have received Spinraza, have seen their muscle strength improve and have already lived long enough to crawl and even walk.

Robert Meadowcroft, chief executive of Muscular Dystrophy UK, said: “While we wait for the interim scheme to be implemented, the clock ticks away for those affected by this devastating, life-limiting condition who desperately need access to this treatment.

“An interim scheme, which looks at making Spinraza available in the short term, is welcome. We must, however, address the problems with the current system for approving rare-disease drugs.

“A longer-term solution needs to be found. We need a more appropriate assessment route for drugs like Spinraza, which fall between NICE’s appraisal routes for new treatments.”

Spinraza proved so effective in a clinical trial for children with SMA Type 1, the most severe form of the condition, that the trial was stopped early so that all children affected by it could potentially access the treatment.

Treatment is now being delivered to some, but not all via a special compassionate access scheme, with the drug being provided free by Biogen and NHS England funding the costs of administering the treatment.

These children will continue to receive Spinraza for as long as treatment proves beneficial.