Theo is our first son. We think he is a gift from god because we tried for many years (even with the help of IVF) to have our own child, but he was conceived naturally. My pregnancy was perfect. We did every possible test and scans to make sure our baby was healthy and not carrying any genetic disease. Together with the genetic tests we have done from IVF, we thought we were very certain to have a healthy boy full of energy because he was born in the Chinese monkey year. He was kicking and rotating actively through to the end of my pregnancy. He was so eager to come to see this world and couldn’t wait for his full term. He was born naturally on 21/4/2016 – 4 weeks early than expected. Other than a bit of congenital jaundice, his APGAR score was marked 9/9 at birth.
During his first 3 months he had a few blocked tear duct, skin and allergy issues, otherwise he was just like a normal healthy baby. He wasn’t very keen on tummy time but he could turn himself around in his cot by kicking his legs at 4 months old. He finally managed to roll at 5-6 months old. At his 6 months check-up, I mentioned that he couldn’t bear his weight which is something he should be doing at his age. The community nurse also found that his upper leg creases were not matching and he had a flat head, so she suggested to do an ultrasound to exclude the possibility of hip dysplasia and said he needed more tummy time. We did the ultrasound and brought him to see the paediatrician with the image. He said he was fine and I should not worry, he was not bearing his weight just because ‘he is not ready’. He also has a big head which was above 90th percentile and that’s why he doesn’t like tummy time as it’s hard for him to lift his big head.
The paediatrician’s rationale was a bit of relief to hear, although I couldn’t stop my worry when I saw what other babies of his age could do in his gymbaroo class. His crawling was almost like dragging himself with arms and legs. He can never do the ‘lion’ pose like the others. We always had to hold him when he was sitting to make sure he didn’t fall. He can only sit safely in high chair with support. At 9 months when we were in Hong Kong visiting his grandma, even his grandma (who always told me not to worry too much as kids grow in different pace) started to worry about Theo not crawling and bearing his weight. As always, he was still a very happy contented baby making everyone in my family overjoyed during our visit.
When we got back from Hong Kong, he was due to start childcare in ready for myself to return to work. His teacher discovered Theo was not sitting unassisted and had a flat head. I was blamed for not giving him enough tummy time – but how much is sufficient I wonder? We took him to the paediatrician again, and an x-ray was ordered to check his hips at my request. Once again, I was assured that there was nothing wrong with Theo and ‘he is just not ready’ in a very quick and rough medical review. In childcare, I saw other babies his age crawling everywhere and he was always very relax sitting in his special cushion chair watching the others. I was very worried then and started to look up all possible reasons for his delayed motor skills – it’s the first time I read about ‘floppy baby’ but I still couldn’t relate it to my son. I finally made the decision to take him to see a new paediatrician. She examined Theo in detail and arranged for us to see an orthopaedic doctor at the Children’s Hospital Westmead. Once they eliminated any possible hip issue, she quickly referred us to see a neurologist and organised a genetic blood test.
We saw the neurologist in early March and received confirmation of SMA diagnosis on the 5th of April 2017. The neurologist arranged for us to see Dr Michelle Farrar at the Sydney Children’s Hospital the following day. He knew Dr Farrar could assess Theo and possibly enrol him into the expanded access program for the only available drug called Nusinersen for SMA Type I babies. While it was daunting for us to know our son had a terminal disease and he may not reach his second birthday, we were very grateful to know there was a drug which could possibly save his precious life.
We saw Dr Farrar the following day. Theo was reviewed in detail and thankfully he qualified to enrol in the EAP of Nusinersen. We cannot thank Dr Farrar and her team enough for putting us at ease with the treatment plan. They are the best team we can ask for. They offered to start the treatment as soon as the drug was available to us. Theo started his first dose on the 19th of April 2017. In the meantime, we got to meet the allied healthcare team who are all very professional and caring. We always feel safe and welcomed each visit, resolving any concerns we may have. Theo is very much spoilt by the medical professionals and, except during his needle time, he is very happy and relaxed there.
Although the changes are still very subtle, after three doses of the drug, we can tell Theo is building up his strength again. He is less floppy and becomes more energetic during the day. He can now sit more steadily and sometimes plays with both hands which is something he could never do before without falling. He has started combat crawling again and can stand assisted. Seeing him playing confidently on his own is the best moments we can have. We hope that he will continue to thrive with the help of the drug.
Our lives changed tremendously since we got Theo’s SMA diagnosis. While we feel miserable at times, we are grateful for the drug and it gives us hopes to live on. We hope the drug can be passed by the TGA and put on the PBS so that all SMA patients in Australia can have access.
Meanwhile, we hope there will be more awareness and knowledge of the disease and the drug especially for the clinicians. If only Theo got his diagnosis as early as 6 months old during his paediatrician review, he would surely get much better benefits from the drug. All the paediatric clinicians should have the knowledge to identify a possible SMA baby, and know that the treatment should be started as soon as possible because motor neurons die due to insufficient SMN protein – time is critical. SMA should also be put on prenatal or at least the newborn screening test. Although SMA is a rare disease, it is not that rare as 1 in 35 people carries the faulty gene. Before we got Theo’s diagnosis, we had never heard of the disease – how come? People should know about it because it is the highest genetic disease leading to infant death. People ought to know about it! The drug should be made accessible and affordable to all SMA patients in Australia just like any other common diseases because all lives are equal.