Kasey’s son, Chester, was diagnosed with spinal muscular atrophy type one when he was almost six months old. Despite noticing issues months earlier, it took Kasey 23 appointments with nine different doctors to get answers. Now Chester is one, Kasey reflects on all the challenges they have faced in his first year of life, and how their future could have been completely different if newborn screening was in place for SMA.
It took 23 appointments to diagnose my son with SMA type one
My beautiful boy was diagnosed with SMA type one on 27 January this year. That day will be engraved into my mind forever — the day my worst fears as a mother came true, and the day I found out the system had failed my son. Chester had his first birthday in August, but his life is so different to his older sister’s at that age. Chester needs a ventilator to breath when he’s asleep or unwell. He has to be fed through an NG tube because he can’t eat orally. He can’t sit unaided or hold his own head up. The future is so uncertain for Chester, but if SMA was included in the newborn screening heel prick test, he could have received treatment from birth, and he’d have a very different life.
I knew it wasn’t colic or constipation
We’d been fighting for answers for so long. Chester was only a few months old when I started noticing that something wasn’t quite right. He didn’t feed like a typical baby. He’d cough, splutter, choke… He always seemed like he was struggling for breath. His bowels weren’t right. He cried endlessly, clearly in distress, and nothing seemed to help. I raised every concern I could think of with medical professionals. But time and time again, I was told it was colic, or constipation, or that I was just an anxious mum.
Some people did insinuate that I was being paranoid, and had I been a first-time mum, I may have believed them. But I have an older daughter, so I knew what healthy newborns are like. I knew I had to keep pushing until I found out what was wrong with my little boy.
We had 23 appointments. Nine different healthcare professionals. None of them picked it up. Instead, we were trialled on dairy-free milks, or a different feeding routine, or something else. Always sent home feeling more confused. He kept losing weight. He wasn’t meeting milestones.
Finding the problem too late
It wasn’t until we were referred to Heartlands Hospital in Birmingham that someone finally listened and agreed that something wasn’t right. Chester was diagnosed with SMA type one, but by this point he was severely ill. They admitted Chester and the doctor told me that if I’d waited just a few more weeks, he might not have been here at all.
I had no idea how to cope with this information. I felt relieved that we finally had answers and come up with a way to help my boy. But so incredibly guilty that he’d been suffering for this long. Could I have done more? Could I have pushed harder to be heard?
Our world would be so different if newborn screening had been in place
Chester started Risdiplam in February, and we’re grateful for every day with him. But it shouldn’t have been like this. He’s now one year old, but he can’t crawl, can’t walk, can’t even sit up unaided. He has very limited movement and almost no muscle mass. He’s on a ventilator when he sleeps and has an NG tube because he can’t feed orally. And yet, despite everything, he’s full of personality. He plays, he smiles, he chats away in his own little way. He brings us so much joy.
What breaks my heart the most is knowing this could have been prevented. If Chester had been screened at birth for SMA — just a simple heel prick test — our lives would be entirely different.
Spinal muscular atrophy is a progressive condition. Although there are treatments now, they can only slow the progression, not reverse it. The earlier the treatment, the better the outcome. For Chester, so much of the damage was already done when he was diagnosed. If he’d started receiving treatment from birth, he might not need a ventilator. He might be able to eat orally. He might have had the typical life of a one-year-old.
Since Chester’s diagnosis, I’ve been involved in several public campaigns to include SMA in newborn screening in the UK. I’ve been sharing our story not for sympathy, but to raise awareness of why this is so important. In the hope that no other parent will have to go through months of being dismissed. The hope that no other baby will have to fight as hard as Chester has just to live.
I love my children more than anything in the world. Chester is brave, resilient, and absolutely full of light. But his story could have been different. And that’s why I will keep speaking up — for him, and for every baby who deserves a better start.
