As with any parent, the day Rose was born was one of the best in our lives. She was perfect at birth, or so we thought. That wave of relief washed over me as a new mom to hear the words “She’s perfect, you have a new baby girl”. The weeks to follow were normal, as with any new baby, Rose did what she was supposed to be doing, it wouldn’t be expected that she would be moving much anyway at this stage so as far as we were concerned, all was normal.
At around 3-4 months old, I began to notice particular things which at the time were suggested to me as being “normal” as “all babies develop differently”. I noticed at this stage that Rose had very poor head control, during tummy time she never made an effort to lift her head, could not bear any weight on her legs and there was no attempt to roll. She was a very placid and happy baby so I just put it down to her being a lazy baby and didn’t think much of it. It’s a busy time having a new baby especially with Thomas working away as a tour bus driver, and I also have another little girl at home, Kate, who was 3 at the time. Once the medical professionals were happy, I was happy. This changed soon after though.
Shortly after 4 months, Rose stopped kicking and moving her legs and so was failing to meet any of her milestones that she should have been meeting for this stage of her life. Her head still needed the same support that a newborn would need and she didn’t have much strength in her hands to enable her to hold her bottle. It was like she had gone backwards in her development, where initially, she had been able to kick and move her legs, this was beginning to stop now. At 5 months old, Rose started to have recurring chest infections and was also gagging on her food as we moved into her solid food stage, once again I put this down to her not liking the taste of her food and getting used to these new textures in her mouth.
This carried on for a few more weeks but by the time Rose was 7 months old, we knew with all certainty that there was something wrong. Karen paused in her conversation and took a moment….every parent knows not to google symptoms but I think we all do it, when I googled the symptoms of poor head control, poor trunk control, not rolling, chest infections, not bearing weight on legs, SMA kept coming up but I really wanted google to be wrong. One very unique symptom that I noticed was her hand tremor, Rose had a distinct hand tremor. I googled the symptoms again trying to self diagnose and still, the one that kept coming up was SMA, Spinal Muscular Atrophy and I suppose I kind of thought Dr google could be wrong. I mean, google CAN of course be wrong, it wasn’t a medical diagnosis, but Rose had a distinct hand tremor as well as all of the other symptoms. Now, at Rose’s 4 month developmental check-up, she got the all clear, I think I was clinging on to this examination report but I knew in my gut that something wasn’t right, and that developmental check-up had happened about 3 months ago at this stage.
When Rose was about 7.5 months, she got a very bad chest infection and was hospitalised with it, it was at this point that I mentioned it to the paediatric team in KUH and that I was concerned about her muscle tone. They immediately started to investigate. Once they realised what her ‘floppy’ symptoms were, their main focus immediately turned to her poor muscle tone and they themselves also noticed signs of spinal muscular atrophy, the hand tremor, the hypotonia, no reflexes in the knees or the elbows and she had also now developed a slight tremor or fasciculation in her tongue.