Back in 2018, life felt like it couldn’t get any busier. With twin two-year-olds (Simon and Isabel) and a four year old (Spencer), two full-time working parents (Becs and Trev), and a dog (Gator), our days were a blur of magical chaos. In the midst of it all, we began to notice that Isabel was gradually catching up to Simon in height and that the shape of Simon’s chest and knees looked noticeably different from his siblings. We didn’t think too much of it, but knew that it would ease our minds to book in to see our family doctor, just to be sure it wasn’t anything to be concerned about.
One appointment led to another and before we knew it, Simon was diagnosed with MPS 4A (Morquio syndrome) on February 28th, 2019 and instantaneously, life got exponentially more complicated. We googled Morquio syndrome and tried to wrap our heads around how progressive and complex the disease is. It took a few months for us to get our bearings and chart a path forward, reaching out to other families, charities and researchers. With only about 80 patients in Canada and a live birth rate of about 1 in 300,000, it didn’t take long for us to realize the unique challenges facing patients with rare diseases.
When we learned that there was a life-sustaining enzyme replacement therapy available for Morquio, we knew we wanted Simon on it right away. That’s when we met our first major hurdle – our home province, British Columbia, had never approved funding for the drug – so we were paving new ground. It took 6 very long months to navigate the mysterious and bureaucratic process involved in getting approval through BC’s EDRD (expensive drugs for rare diseases) patient review process (evaluated on a case-by-case basis). Waiting for this approval was agonizing – knowing that the disease was progressing in Simon while a life sustaining drug was available.
When approval finally came through, we then traveled once a week to BC Children’s Hospital in Vancouver so that Simon could receive ERT – an intravenous infusion that takes about 7 hours from start to finish. We did this for 6 months for a total of 27 weekly overnight trips. Simon endured a wide range of severe allergic reactions before the medical team was confident that he could safely transition to receiving the infusions at home, delivered by a trained nurse. With 52 infusions per year, by the time he’s 10 years-old Simon will have endured over 350 days hooked up to an IV pole.
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Getting used to the infusions was our first major life adjustment, with many more to come. Despite ERT, Simon’s disease continues to progress and we’re constantly adapting to what that means. We still travel to Vancouver several times a year for routine monitoring that allows his specialist to monitor the progression of the disease in his bones, eyes, ears and heart.
We often get asked, is ERT working? And while it’s a completely reasonable question to ask, the answer is really complicated. The efficacy, or effectiveness, of the drug is really hard to measure. The medical team uses a combination of annual tests (e.g. the 6-minute walk test) and various measures of Simon’s quality of life to determine that ERT is indeed slowing the progression of the disease to some degree and helping him maintain healthy energy levels.
So suffice it to say, we are dedicated to working as hard as we can to find a cure that will dramatically ease the burden of MPS on Simon. This may turn out to be gene therapy (seen as the ultimate ‘cure’) or it may be something completely different that we don’t yet see on the horizon. All we can do is put one foot in front of the next and continue to pave the way for Simon and our family to thrive and hope for a bright future.
CureMPS is fuelled by Simon’s delightful and hilarious personality. If you’ve ever met him, you’ll know exactly what we mean.
He is wise beyond his years and brings incredible wit and determination to everything he does. He loves swimming, riding his bike, watching sports and playing goalie in our neighbourhood street hockey games. He and his twin sister, Isabel, are a dynamic duo and have a special bond that’s pretty incredible. There is also a magic between Simon and his big brother, Spencer – they are all quite a crew!
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