HI,
My name is Alyssa Kotsopoulos and I Suffer from a disease called Spinal Muscular Atrophy Type 1 (SMA1). A progressive genetic disease that attacks the motor neurones of the spine leading to severe muscle wastage and a premature death. When I was diagnosed the doctor told my Mum and Dad to take me home and love me while they could as there was nothing the RCH could do. Nothing Australia could
do. No treatments, cure no hope. They said I wouldn't make it to my 2nd birthday. My Mum and Dad, after two weeks of crying, scoured the internet looking for answers and hope. They found a study being conducted at Stanford University in America, using a drug called Hydroxyurea. The researcher hoped this drug could slow or even stop the progression of the disease. After speaking with the head reasearcher, Dr Wang, they did all they could and with the help of the community raised enough money to get me to America. Unfortunately shortly after arriving in California i contracted a severe respiratory tract infection and was admitted to PICU at Stanford Hospital. I had contracted Respiratory Syncytial Virus and was placed on life support as the mucus was thick and because of my underlying muscle weakness, was too weak to cough it out from my lungs. I couldn't breathe and nearly died. I spent 3 weeks in PICU. The doctors and Nursing staff were fantastic. They used a machine on me called a Cough-Assist.This machine blew air into my lungs and then quickly sucked it out, simulating a cough. It saved my life. This machine wasn't available as a treatment in Australia as it's safety and efficay hadn't been tested and proven in an Australian Clinical study. Unfortunately because i had been admitted to PICU it meant i was ineligible to partake in the Drug Trial. This was a devastating blow for my parents who had flown me half-way across the globe to save my life. We were told we couldn't stay in America any more as the hospital costs were piling up, but my parents were stubborn and stood their ground. They refused to return to Australia unless doctors in Melbourne were willing to administer the same drug as it was being used in the trial. After some intense negotiating, everyone came to an agreement my Doctors at the RCH agreed to administer the drug. We were flown back to Melbourne. I remained intubated to protect my airway for the flight back home. We landed at Tullamarine and I was rushed straight to the RCH and my parents met me there shortly after. I remained intubated for a further two weeks as doctors were pressuring my Mum and Dad to give me a Tracheostomy and refusing us the use of the Cough-Assist. The doctors doubted I could be extubated and my only chance of survival was a tracheostomy. Which meant having a permanent hole and breathing tube placed in my throat, meaning I'd be able to breathe via a machine, but would never talk. My parents refused to give me a trach and kept pushing for the Cough-Assist. They were facing so much resistance from the Specialists. They were being told "it's not safe' there have been no trials. Whilst there was agreement on the trial drug, there was a stand-off on the cough-assist. The Doctor's eventually let us trial a Cough-Assist in the hospital, but the Head of Respiratory, now Chief of Medicine Prof. Collin Robertson wanted to see it it's efficacy. My Mum and Dad agreed for me to undergo a procedure called a Bronchoscopy. This was a procedure conducted under anaesthetic in theatre, where a camera is placed into the airways. It was risky because it meant going under anaesthetic. My parents knew i'd be fine and had to prove how well this machine worked at clearing the airways of children with muscle weakness. The procedure was preformed and everyone was amazed. Prof Robertson walked up to Mum and Dad after the procedure and said 'Wow, i am amazed"
He then approved it's use as a viable treatment in SMA. We Donated $9,500 to the RCH to purchase the first Cough-Assist in Australia. I am now 10 years old and have changed, not only the way SMA is now treated, but also other neuromuscular conditions such as Muscular Dystrophy. This machine now helps hundreds of patients in Australia and certain charities now have cough-assist programs. It makes me happy that i've helped make a change and allow parents more precious time with loved ones. Please follow my journey, help spread awareness and help cure this disease.
