My name is Maria and in August 2015 I gave birth to two beautiful twins: a boy and a girl….
With little sleep and busy days, also having two older kids aged twelve and eight, I thought that surely life couldn’t be any harder for me. Wow, was I wrong!
As the twins grew, I could see Mila (the twin girl) getting stronger and Louis not so much. My husband and I joked about it, thinking boys are slower to develop… also it is important to say that the maternal health nurse thought he was just fine. But when he was about one month old, I knew that something was not right and that it wasn’t normal.
I went to a medical centre on a Saturday and just said to the doctor, “I think my son is floppy”. I was very lucky that this older doctor didn’t send me home saying, “he is just fine, he is just a new born”. He actually said “the doctors at the hospital will probably think I am a old crazy doctor but further tests should be done”.
And that’s how it all begun…. we spent three days in hospital doing tests. Again, we were very lucky that the paediatrician also took our worries seriously.
Two weeks after we went back to see the paediatrician. She didn’t have the results yet but I will always remember her writing the symptoms down and the different possibilities of diagnosis. One of them was SMA but she told me she was hoping it wasn’t that because when she was a medical student they taught her it was the worst disease. A few days later I received a phone call and was sent to see a neurologist at the Melbourne Royal Children’s Hospital.
We received the death penalty when they told us Louis had SMA Type 1. He was a very severe case and there was no cure. Pretty much we were told to love him and that he probably wouldn’t reach six months old. They told us that we could be part of a trial at the Hospital but we would have to wait for more blood tests to see if Louis was a possible candidate or not.
A week after, we went to see the neurologist again and she told us he could be part of the trial (Isis- now called Spinraza) but at this time there was also a placebo. One out of three would receive the placebo. We were devastated (thinking Louis would probably receive the placebo) and looked at all the other options around the world. We found gene transfer therapy… we sent emails and made phone calls.
We needed to be in America as soon as possible and we made the impossible happen; in one week we managed to get the birth certificates for the twins, passports and an American Visa. We flew overseas not knowing anything. The doctors there did some screening to check if he was eligible and on the 14th of October 2015, Louis received by intravenous the missing gene.
We stayed in America for one year, with either my husband or myself travelling back to Australia as the other children were still here. It was the hardest year of our life. Now, we are back in Australia with Louis.
He is now one and half years old and doing very well. I am so grateful we made the sacrifice to go to America and have the gene transfer therapy done. This trial gave my son a second chance at life. There is still a long road to go but I can see the light at the end of the tunnel.
Also now that Spinraza is available and been accepted by the FDA (in America) there is even more hope for Louis as he hopefully will be able to receive this drug and make him even stronger.