‘Treatment will give our girl the chance to do simple things’
PARENTS WANT MEDICINE FOR DAUGHTER TO BE MADE AVAILABLE ON THE NHS
A GIRL with a devastating musclewasting 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.
It means her strength and mobility has diminished so much she cannot lift her arms, stand, or push herself in a wheelchair, but the one treatment that could help currently is not 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.
“All the hopes and dreams we had for our little girl began to fade away.
When we heard that The National Institute for Health and Care Excellence (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 and Tammy, her mother, 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’. Tammy grew more concerned and kept taking Sophie to the GP and a paediatrician until they took comprehensive blood tests. 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.
“No one in our family 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.”
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: “Right now, we get so concerned if Sophie gets sick, because 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.
“Everyone needs an opportunity. I know it’s expensive, but we would love for Sophie to have a more independent life – just to enjoy being at playgroups, or being happy around other kids.
“It’s hard to see Sophie 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 old. Who wouldn’t try to do the best for their kids?”
No one in our family could understand why this was happening to our daughter