I’m writing in support of the lives of parents like I, whose children suffer from a fatal disease, Spinal Muscular Atrophy.
Our son, Adem, was diagnosed with SMA type 2 when he was 14months old. SMA is a deadly and debilitating disease and the leading genetic killer of kids under two. When we got the diagnosis I was told that my son would have difficulties eating, swallowing, standing and that he would not walk. I was also told that Adem will be confined to a wheelchair for life, gradually losing all muscle control.
However, currently there are experimental treatment trials in the US and I’ve seen so many positive results. Families have messaged me saying how great the results are and I’ve seen videos comparing what the children taking part in the trials could do before taking the drug and what they can achieve now.
On the 26th of November 2012, my husband and I were blessed, welcoming Adem to the world. Labour was very quick and we didn’t make it to the hospital, my husband delivered Adem at home. We were not fussed what sex the baby was going to be as long as it was healthy. I was excited to have another boy, a mate for his older brother to hang out and kick a ball with.
I remember when I did get to the hospital they weighed Adem and checked him all over. I asked if everything was ok, they said yes but did mention his hip might need an x-ray which was all clear.
Around six months of age, I would put Adem on his bottom but he just flopped down. He never liked tummy time and would cry and he never really held his head up. I did mention these concerns to my GP but she wasn’t worried.
When he was nine months I put him in a friend’s walker and he took a few steps, I felt relieved and thought there was nothing to worry about at this stage. His legs were floppy so I introduced vitamin D thinking that would help.
I just thought I had been blessed with a really relaxed baby with a smile all the time. He never cried or winged.
Adem turned one in November 2013, his little cheeky personality come out and he did say a couple of words; Dada, Mama. We got him a walker but he never did anything apart from sit in it, he never took steps. At this stage my husband said there was something not right, so I made an appointment to see my GP. In the meantime I spoke to friends and family about our concerns with Adem’s development and they thought we were over-reacting .I explained to the GP my concerns and that I wanted to see a paediatrician so she gave me a referral.
We saw the paediatrician in January 2014. He examined Adem and said yes there is a concern, and booked us in to see a neurologist the next day. He checked Adem all over and wanted blood works done, the whole time Adem was happy and full of smiles.
February 13th we got a phone call asking us to go the next morning for the results. We got up that morning trying very hard to stay positive. When we got to the hospital we had to sit and wait, there were so many kids with feeding tubes and wheel chairs. I thought poor babies they are stuck in wheel chairs when they should be running around being kids.
Our name got called and we went to the room. The neurologist gave us the news that Adem has SMA. I was what, no!! But I was also confused. I didn’t know what SMA was, I had never heard of it. Neither side of the family had ever been affected. We were referred to different specialists including; physio, OT, Respiratory, Dietician and a Genetic Counsellor. My husband asked “will my son walk” and they said it a quiet polite tone “no”, my husband took that badly and he walked out. I didn’t know what to say, they handed me an envelope and said “its ok, we will talk again soon.” As I got up they noticed I was pregnant and asked if I wanted to test the baby in case it was affected too, I said yes.
Adem got a bad cough the next winter. One night he was sweating a lot and vomiting, I thought I was going to lose him that night. The next day we took him to hospital and they x-rayed Adem, he had a collapsed lung with pneumonia. Which is common in children with SMA and life threatening. With intense physio and a cough assist machine loaned from SMA Australia, he pulled through. We now keep away from anyone that’s coming down with anything.
3 years on and our routine is the same every day. It is very exhausting and tiring between cough assist machine use, physio, stander, massage and feeds. Our lives work around Adem and we don’t do much as we focus on him. He is now at kinder which he loves.
Adem is aware that he can’t walk but says to me, “when I get bigger I will walk” or “mummy ask the doctors to give me a needle to help me walk and play soccer”.
I just hope to see Adem on Spinraza, it’s a life changing treatment ….It’s been 3 years that our family has struggled with spinal muscular atrophy and we just want something to make our son’s life better even if it slows progression and makes him a bit stronger to lift he’s hands to give me a hug.