My daughter, Lily Rose McConnell, was diagnosed with SMA Type 1 on Thursday 25 August, 2016 when she was 9 months old. However, it took over 2 months to get a diagnosis which was incredibly frustrating.
Before I begin, I want to make it very clear that nobody is at fault or to blame for this. It was a combination of errors, judgement, and a ‘she’ll be right’ attitude because let’s face it – SMA affects 1 in 10,000 babies. Why on earth would it happen to mine?
Lily was born on 12 November, 2015 and was my first child with my husband, Aaron. We both had a daughter each from previous relationships, but Lily was our first together. Not once did we ever contemplate genetic testing or thought anything would affect our baby, because we had perfectly healthy children already.
Lily was developing like a normal baby, and at 4 months of age could hold her head up during tummy time and lift her chest from the floor. We past our Maternal Child & Health 4-month check with flying colours, and weren’t expected back for another 4 months. From here, this is when Lily’s movement began to deteriorate.
When Lily was 5 months old, I went back to work. I have worked hard to get where I am in my career and I enjoy my job. But, this meant Lily would go to childcare when I was working, and I became very time poor. By the time I got home from work, I would feed Lily and she would be in bed exhausted from the big day playing with her friends.
Lily was 7 months old when I noticed that she had no interest in rolling. She also wouldn’t lift her head during tummy time anymore, and the ladies who cared for her at child care noticed the same. Some babies develop slower than others, and some are just lazy. I was told this repeatedly. So, when I did have some time, I would work with Lily to try and get her moving – placing toys next to her to extend her reach, attempting tummy time and trying to show her how to roll by doing it for her. Nothing seemed to work.
Whilst all of this was going on, Lily was also sick. She seemed to have a cold that just wouldn’t go away. GP visits to two different doctors told me it was either a chest infection or croup. Antibiotics didn’t work, and she barely slept. We were beside ourselves, both working and being up all night with a baby that just couldn’t sleep, was irritable and was becoming floppier by the day.
We were then referred onto a pediatrician. He did express concern about her lack of movement and wanted to see if physiotherapy would help. I believe he was suggesting hypertonia, and wanted to ensure that if she didn’t improve with physio, we could work on the next theory. He also ordered Lily to have a blood test done for a condition called ‘SMA.’ However, it took 3 weeks to get a physio appointment in the public system, and by the time we did, the physio had told us that she needed a diagnosis to work with. She knew something serious was up, but not being qualified to suggest otherwise, referred us back to the pediatrician.
Whilst we were waiting for a physio appointment, our pediatrician also went on a 3-week holiday. We knew of this, and had booked in to see him upon his return. The blood test that the pathology had conducted was wrongly tested for ASMA instead of SMA, so nothing was flagged from this test.
When the pediatrician did return, he began to be quite concerned. Realising that the wrong test had been completed, and that Lily seemed to have deteriorate even more, we were referred straight onto the Royal Children’s Hospital in Melbourne the next day. I was petrified.
It took 7 hours of waiting to see the neurological team at the hospital, but they literally took a 10 minute examination and I could tell they knew it was SMA. They didn’t say this though and obviously needed blood work to confirm, but from Lily being so weak I think it was clear. We were sent home and told the results would be a week away and to bring our family in when they were ready. In other words, to receive a death sentence.
We were due to get the results on a Friday. However, the Thursday afternoon beforehand Lily’s chest infection became so bad that she was struggling to breathe. We called an ambulance immediately and was rushed into the hospital. It was there later that afternoon where we were taken into a small room that’s part of Emergency by the Head of Neurology, Prof. Monique Ryan and told that Lily had SMA, she had the most severe case of SMA, and that she would die from this condition. In fact, the current infection that she had could mean that we could lose her at any given time in the very near future. Hands down, the worst day of my entire life.
We spent 3 and a half weeks in PICU, as each day Lily began to slowly recover from her infection. We were then moved out to a ward for a week, and finally sent home. Lily was still dying, but we were granted more time with her because she still had some strength. Since Lily was diagnosed so late they told us that although she was Type 1, she was strong.
We read up on treatments that were currently being trialed overseas. Some Australian babies were receiving the treatment, but were part of a EAP that we were ineligible for, purely based on timing. We could travel overseas, but without being US citizens we would struggle to get any assistance. Plus, the costs were outrageous, we didn’t even know if it would work and we didn’t want to put Lily through all of the travel.
Looking back on everything that has happened, Lily would have most likely been a perfect candidate for the Nusinersen treatment (Spinraza). If she was diagnosed earlier, and being as strong as she is, I believe we would have seen a completely different child to what we do now. But, for so many reasons that I will never understand, it just hasn’t happened for us.
Lily is now 15 months old, but is very weak. Her chest has all but deteriorated, she is working hard to breathe and has had a nasogastric tube inserted 4 weeks ago due to weakness with her swallowing. But, she’s a happy baby and although we know our time is limited, she has truly been an inspiration and a blessing. We’ve had Christmas, a beach holiday and many family trips with her, making wonderful memories.
We cannot thank the people that have supported us on our journey. Monique and her team at the Children’s are incredible, the Palliative Care team have been so amazing and all of the nurses in PICU and Cockatoo who have cared for Lily will never know how thankful I truly am. For now, we enjoy the time that we have with Lily, we raise awareness about SMA to help prevent the same outcome happening to others, and we must try and accept that this is our cruel, cruel fate.