An adorable little girl with a devastating muscle-wasting condition could have a new lease life - if the only treatment that could help her becomes available on the NHS.
Toddler Sophie Guerra was diagnosed with spinal muscular atrophy (SMA) Type 2 at the age of one, back in February 2017.
Heartbreakingly, it means that her strength and mobility has diminished so much, she can't lift her arms, stand, or push herself in a wheelchair.
And the one treatment that could help currently isn't available on the NHS.
Sophie’s dad, Raul Guerra, 34, from West Drayton, said: "When Sophie was diagnosed with SMA Type 2, our world began to fall apart.
Health news
"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."
As the symptoms of SMA have progressed, Sophie – now aged two – has lost the fine motor skills she was just beginning to learn and develop.
She never learned to walk or crawl, but could shuffle and roll on the floor. Sophie was also able to stretch her body, reach out and grab objects and stand on her feet. Now, Sophie has lost the ability to do all of these things.
Sophie’s condition has taken a heavy toll on the family, particularly her mother, Tammy, who has become Sophie’s full-time carer.
Tammy, who formerly worked as an engineer, said: "It started with a slight tremble in her hand when she was born.
"She was growing normally and reaching her milestones. At six months she started push herself backwards to start crawling. She was sitting independently at seven months and nine months, standing with support.
"Then when she turned 11 months, she didn't want to stand, she just wanted to be sitting. But the GP was just telling me they are not concerned until 18 months, they said 'maybe she's late, some kids are'.
'No one in our families could understand why this was happening to our daughter'
But the mum-of-one grew more concerned and kept taking Sophie to the GP and a paediatrician until they took comprehensive blood tests - and she was given the diagnosis in February 2017.
"It was really hard. It was unbelievable, to be honest, I didn't want to believe it", said Tammy.
"Mostly because no one from our family has something like this. It was a really tough time. Our family is far so we felt by ourself. No one in our families could understand why this was happening to our daughter.
"We still don't - but we try to do the best we can. It was devastating, like we were in a nightmare."
The National Institute for Health and Care Excellence (NICE) is currently assessing the treatment Spinraza for delivery on the NHS.
Muscular Dystrophy UK has joined forces with SMA Support UK, The SMA Trust and TreatSMA2 to call for the interim scheme to be implemented as quickly as possible.
They are also calling for the fundamental problems with NICE’s assessment structures, which hold up the approval of drugs for rare diseases like SMA, to be reformed.
Tammy added: "If she doesn't have the treatment at she'll scoliosis (spine deformation) Right now, we get so concerned if Sophie gets sick, because for it can be really bad - it can be fatal. She doesn't have the strength for her body to fight. With the time passing, she's getting weaker and weaker.
"We've seen kids with SMA1 getting much better with this drug but those with SMA2 and 3, they are getting worse.
"Everyone needs an opportunity. I know it's crazy expensive but we would love for Sophie to have a more independent life. Just to enjoy being at playgroups, or happy around other kids.
"It's hard to see how Sophie is deteriorating and we would like her to have an independent life. We can have this drug. Everyone has the right to hope. She's just a child, she's two years, who wouldn't try to do the best for their kids?"
