Within moments, I’d gone from planning my future with my newborn to planning his funeral.
My son, Edward, was seven weeks old and I knew his limp limbs and inability to hold his head up wasn’t natural. So, sat in a hospital waiting room, I Googled it.
Spinal Muscular Atrophy (SMA) was the first thing that came up, along with the statistic that 95% of babies with the condition die before the age of two.
My world came crashing down around me. I tried to rationalise that it could be something else, but every single symptom – like floppy limbs and breathing problems – matched my son’s. My mind raced as intrusive thoughts popped into my head; ‘We’ll give him the best life possible until he dies’; ‘What is he going to wear and what toys are we going to bury him with?’; ‘How am I going to live without him?’.
When Edward – now nine weeks old – was born, he seemed perfectly healthy. After a relatively traumatic birth, where I was in labour alone in a dark room because of Covid-19, Edward passed every test.
He was a bonny little lad, weighing eight pounds and 15 ounces. He was wriggling around and was an active baby, up until he was four weeks old.
Towards the end of September, he had stopped moving his arms and legs as much. It wasn’t really noticeable but it caught my eye and I made a mental note to bring it up with the health visitor when she came round.
By the time she did, two weeks later, he had no head resistance at all. He was increasingly floppy and he was belly breathing all the time.
The health visitor took a look at him and told me that he was just taking a bit longer to hit the usual baby milestones. There was nothing wrong, he was just a bit lazy.
It put my mind at ease and we went on with our lives until the following Sunday when my partner, John, took Edward out in the car to get the weekly shop. When he put Edward in his seat, he started crying and soon fell silent – which was normal for a car journey as he would usually fall asleep.
A few minutes later John looked at Edward in the mirror and saw that he had turned white and blue. He pulled him out of the car and started to resuscitate him, and as he was doing so some phlegm came up. Edward was rushed to hospital after choking on it.
From the hospital he went into resuscitation, before being blue-lit to Addenbrooke’s Hospital, which was better placed to cope with his needs, and he was put into a medically induced coma for three days. I was distraught and desperate to see my little boy awake again.
The doctors thought he had bronchitis and put him on antibiotics, telling us everything would be fine, which eased our nerves slightly, before the tests came back. When they did, they were negative.
When I would see him, he was extremely floppy – more so than before. It was like he was made of dough. Not knowing what was wrong or how I could help was one of the worst feelings in the world.
When neurology came round the next day, there was no response to any of the reflex tests they gave him. That’s when I put his symptoms into my phone.
I couldn’t breathe. In that moment I thought I was going to lose my baby. The next day I spoke to the doctor, who told me that she suspected it was SMA.
I was too scared to ask her if what I had read on the internet was the truth, and she told me and John to just go off and spend time with our baby to process the news and that we’d speak about SMA in more depth the next day.
I took that to mean he was dying and my world imploded on itself. Edward, John and I were put in a room and all I could do was hold my baby and sob uncontrollably. I was mourning him, even though he was still in my arms. John had to remind me that he wasn’t dead yet.
The neurologist met with us the next day and she calmed me down. The stats I had read had been the case – but everything changed in 2017.
She told us the SMA1 – which is what Edward is suspected to have – is a genetic condition that makes muscles weaker. It’s a degenerative disease and babies with it can’t produce enough of a certain protein for motor neurones to work normally. The babies who died from it did so because they were no longer able to breathe properly.
There are now two treatments that can help manage the condition, with one of them available on the NHS. Spinraza is administered through injection at different intervals throughout a person with SMA’s life, to help provide them with this missing protein.
Once Edward is formally diagnosed – as the tests take a long time – he will be able to access this and his chances of survival are massively improved. He may be able to sit independently, and although there is a chance of him needing a wheelchair or assistance aids, he can have a normal life.
We’re so fortunate in that Edward will be diagnosed far earlier than most babies with SMA, whose parents usually find out around six or seven months. In some ways we’re really lucky that he nearly died, because there is less time for him to regress before he starts treatment.
There is another treatment, however, which is supposed to be available on the NHS within the next two years. When I heard about it, I knew that I wanted it for my son.
Zolgensma is a one-time gene therapy that includes a copy of the gene Edward is missing and replaces it, restoring his nerve function.
Neither of the treatments will mend the damage already done, but they will go some way to protect him from more in the future.
I think any parent could also understand why we would want him to go through a one-time treatment, rather than injections for the rest of his life.
But when I looked into Zolgensma, I learned that all UK clinical trials are full, and if we wanted to travel abroad and get it, it would cost John and I £1.2million – money we just don’t have.
I was relieved to hear there was another option for treatment, but was angry to discover how much it costs, given that it could help ensure Edward isn’t severely disabled for the rest of his life. Still, we don’t want to wait any longer for it than we have to.
We are lucky in that John and I both have big supportive families who are helping us fundraise to meet that target. We’ve also teamed up with Tree of Hope, a charity that helps raise funds for children’s specialist medical equipment. So far we’ve raised over £100,000, but there is still a long way to go.
The worst case scenario is that we have to wait for a year and a half for Zolgensma to become available. Once we have a diagnosis we can get Spinraza to keep the illness at bay, but I don’t know what he’ll look like in a year and a half. I’m impatient for Zolgensma.
His doctors are 99.9% sure that his condition is SMA, but we can’t know for certain until we have the results back. I think if they came back as negative, that would be even worse. I can’t go back to not knowing what’s wrong.
While we’re worried that fundraising efforts may drop off, John and I are trying to look for the positives.
We have seen what babies who are diagnosed later look like, and we are so grateful that we now know, before things are a lot worse and can’t be reversed. We’ve heard success stories from parents whose babies’ lives have been saved by these treatments and we’re hopeful.
And in the end, we have the happiest, bonniest baby you’ve ever met. He’s been a dream since the moment he was born, and as his parents, we’re determined to do the best we can for him.
Once we have treatment for him, I can go back to planning our bright future together.
What is Spinal Muscular Atrophy (SMA)?
SMA is a rare genetic condition that causes progressive weakness in the muscles and the loss of motor neurons. If untreated, it is the most common genetic cause of death in babies.
What are the symptoms of SMA? Possible symptoms include floppy limbs, tremors, problems with movement, poor head control, progressive weakening of the arms or legs, breathing or swallowing difficulties.
What are the different types of SMA? There are four different types, relating to the age of the patient. Type 1 is the most severe, and affects babies younger than 6 months old.
What causes SMA? A mutation in the SMN1 gene, which is responsible for SMN, a protein that motor neurons need to survive. Usually, the mutation is inherited from both parents.
How common is SMA in the UK? An estimated 1 in 40 people carries the SMA gene. Approximately 100 children are born with SMA every year in the UK.
Is there a cure for SMA? What are the treatments? There is currently no cure for SMA, but treatments that can help include feeing tubes, braces and surgery. There are also various medications and gene therapies available.
For more information, please visit the SMA UK charity: smauk.org.uk
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