There are many people in this world who would love to give back to their communities through their profession, whether that’s being a police officer, a teacher, or having a role within a charity to name a few.
Working at OCG Careers in a part-time capacity, I’ve been lucky enough to continue my chosen career, while being a part of an incredible cause that is close to my heart; a cause that affects me personally.
It may come as a surprise to many to learn that I suffer from spinal muscular atrophy (SMA), a devastating, and for some, terminal neuromuscular disease. SMA causes my body to lack the protein it needs for muscle growth and strength.
Within the past three years, countries like the USA (through bodies like the FDA) have approved the first-ever treatment for SMA, called Spinraza, a treatment that literally has the potential to be a life-saver and in adults like me, it can stop deterioration.
Submissions to the Pharmaceutical Management Agency (Pharmac) for funding have been deferred so lobbying continues with increased urgency, to ensure that New Zealanders can have access to this vital medicine.
Background to spinal muscular atrophy (SMA)
Google SMA and you’ll find some scary stuff. It’s a condition with varying severity, caused by a mutation in the SMN1 gene. Basically, the entire gene is missing.
Motor neurons are the essential nerve cells in the spinal cord that send out messages to muscles throughout the body. Because my body doesn’t make the protein it needs for the motor neurons to survive, it stops being able to communicate with the muscles, causing them to atrophy and stop working and, in the most severe cases, it impacts the breathing muscles.
I don’t want to scare people; I’m doing incredibly well and am still active at the gym, get involved in day-to-day activities and I generally don’t let it stop me doing anything, but I’m a rarity. One of the things that confuses people when I’m advocating for SMA is that when they see me, they don’t really see the full impact of the disease, and may be lulled into thinking it’s not as serious as I’d have them believe. Most people with my type of SMA (and at my age) would be in a wheelchair and I am not even close to that! Researchers are currently analyzing my DNA for genetic markers to try and work out why I am protected from the typical course of the disease.
Friends I’ve made through this journey have suffered heartache that is indescribable, from losing children to this disease to seeing loved ones lose all ability to communicate. The mental health issues alone that go with dealing with loved ones battling this disease are immense.
The more I’ve become involved with this cause, the more I realise that I need to be transparent and open up more. I was diagnosed seven years ago, and although the condition has a minimal impact on my life today, there are so many people fighting for their lives.
I know I am one of the lucky ones so I have chosen to be a voice to enable those more severely impacted to spend more of their precious time with those who need it most. They shouldn’t be having to campaign for something they should have access to although they still do. Our community is well worth fighting for and despite treatment being available, it is extremely costly.
Unfortunately, the reality is that there are so many people that will die if they don’t get treatment. Every day, could be another motor neuron lost, which is potentially another motor function gone - we cannot wait for this treatment. Young babies with SMA cannot fight a common cold and their bodies let them down.
I have met so many families impacted by it and having been to the Cure SMA Conference in America recently, I have seen for myself what a strong community can achieve and ultimately, what treatment means – it’s life-changing for both adults and children.