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When it comes time to bring a new life into the world, there is so much excitement, anticipation and a little bit of nerves sprinkled amongst all the other emotions. For our family, although this was still an exciting time, what we didn't realize was just how much our life would change, along with the way we view the world around us.

When Mason joined us on the evening of his due date, he needed a little extra help to start breathing on his own and after an overnight stay in the NICU, we were so excited to finally snuggle the newest member of our family. He had the softest cry, almost like a kitten, and was swaddled so tightly that we didn't immediately notice his low muscle tone or weak movements (hypotonia). It wasn't until the pediatrician came in to conduct the standard routine of newborn tests that it was determined Mason was missing his Moro (startle) and Stepping reflexes. At this time, we also started to leave his arms out of the swaddle to see if he would start moving them more, which fortunately, he did, but still nowhere near the typical movement expected of a healthy newborn.

From this moment, the waves of uncertainty began rolling in. We had a fairly uneventful pregnancy with

no indication of any major concerns, or reasons to conduct CVS or Amniocentesis. We had no family history of any genetic concerns or reasons to believe we would be delivering anything but a healthy baby. Fortunately, the pediatrician who walked into our room hours after Mason's birth understood our drive for answers as to what was causing our son's low muscle tone and weakness, and so the tests began.

Hypotonia in itself can be a bit of a tricky symptom as it is not something that typically occurs on its own and rather, is a symptom of something else. The first thought was that these symptoms could be a result of a traumatic birth as Mason's heart rate was dropping and there could have been a lack of oxygen at some point during his delivery. Thus, a 'wide net' was cast and the first attempts at diagnostic testing included an ultrasound of his head, awaiting the results of the newborn screening panel and additional blood work. With all of these tests clear, we were discharged and booked a follow up pediatrician visit at one week of age where additional testing would be discussed.

Although we didn't realize it at the time, it was at this appointment that the most critical event happened. The Neurology Team at the Jim Pattison Children's Hospital in Saskatoon were consulted and recommended a series of genetic testing to be run. This was the first time on paper (Mason's lab requisition), where we saw the words Spinal Muscular Atrophy(SMA) connected to our family. At 12 days old, Mason experienced his first MRI (which the results came back normal) as well as had his blood drawn for what ultimately would lead to a diagnosis that was once a death sentence - SMA was long known as the leading genetic killer of infants under two years of age.

Just a day shy of one month of age and more than a couple weeks after the blood was drawn, we finally received a call back from the pediatrician asking us to meet later that day. It was at that appointment when we were handed a piece of paper telling us that Mason had zero copies of the SMN1 gene (this gene is what provides instructions for the production of survival motor neuron protein which is essential for the proper functioning of the motor system - the majority of the population has 1 or 2 copies) and only two copies of the backup, SMN2 gene. This means Mason has SMA Type 1 (the most severe, but also most common form out of the typical 4 types of the disease). Less than 24 hours after we were advised of the diagnosis, we received a call from Mason's assigned Pediatric Neurologist from JPCH and had an appointment booked in Saskatoon for the next business day.

The first few days post diagnosis

extremely challenging, in particular, the immediate 24 hours. Spinal Muscular Atrophy is a rare genetic disease affecting approximately 1 in 10 000. As such, our pediatrician did not have much information for us, but assured us we would receive more at JPCH. Thus, we took to the internet, which was a terrifying yet hopeful place. It was here that I realized I had, by pure chance, heard of SMA before through Jessica Janzen sharing the story of their late son Lewiston, who lost their battle to Type 1 SMA after almost six months of life in 2016. Since this time, Jessica and her family have rallied around so many other SMA families through the creation of the Love for Lewiston Foundation as they endeavour to create awareness and bring joyful experiences to those living with the disease. We also learned that SMA is a genetic neuro-degenerative disease that affects the motor nerve cells resulting in deteriorating physical strength / muscle weakness and it can appear at any time. Mason was symptomatic at birth.

The other reason I had heard of SMA prior to diagnosis was due to researching Mason's symptoms. At this time, I discovered that the province of Saskatchewan does not screen for this disease at birth, however other provinces (including one we had recently relocated from) in the country do. This made the diagnosis that much more challenging knowing that our son was subjected to additional testing and blood draws that would not have been necessary should he simply have been born in another province where his diagnosis would have been nearly immediate and treatment would come more promptly. This fact has also brought more purpose to our journey as since this time, we are beyond grateful to have learned of the hard work currently going on behind the scenes in Saskatchewan to introduce SMA (and a few other conditions) into the newborn screening panel. In order to support this project Mason and his family members have had voluntary blood draws taken in order to help support this work in hopes that the journey of future SMA families will be filled with much less uncertainty and more timely diagnosis and treatment.

As previously mentioned, SMA was once known as the leading genetic killer of children under two years of age. This was prior to treatment being available. Presently, there are three approved SMA treatments in Canada which have all happened only in the last few years. The most impactful for our family (and many others worldwide), Zolgensma, was given the green light in December 2020. To date, Mason has received two of these three treatments. The first, Spinraza, is delivered via spinal (intrathecal) injection and after a series of four loading doses, would be required every four months for life. Mason received two Spinraza injections before he received the gene therapy treatment, Zolgensma. What is known as the worlds most expensive drug with a $2.9 million price tag, is delivered via IV over a one hour period. In Canada, there are very specific criteria to be able to qualify for this drug including age and weight limitations. Additionally, the treatment is delivered via the AAV9 vector, thus Mason had to have blood drawn and flown to Rotterdam to ensure he did not have antibodies developed which would disqualify him from the treatment.

Just over three weeks after we received the blood work results that he qualified for treatment, we were back to JPCH for the big day. After all the emails, phone calls and effort that went into securing this treatment (which in the grand scheme of things was much quicker than so many SMA families have experienced while awaiting the treatment to be approved in Canada), infusion day was the most relaxed and anti-climactic of them all. Preparations began the day before with two IV sites inserted and the first dose of steroids administered. On treatment day, we all sat in a windowless room and felt a huge breath of relief once it was confirmed the flow of the multi-million dollar treatment began trickling into Mason's veins. Over the next hour, we had a Music Therapist serenade our little warrior and all shed some happy tears of relief. Although this treatment is still so new that the longitudinal data is only about six year old, we knew this was the best option available for Mason to live a longer and more fulfilled life.

Today, we are 4.5 months post infusion and our little guy continues to surprise us. Although the first month post treatment was incredibly stressful with blood tests each week and gloves being required to change diapers and extra precautions taken with any bodily fluid, the tests and appointments have slowly began to spread out. Although we still have regular blood tests, most of our appointments now look a little different as our focus is now on weekly physical and occupational therapy, along with aqua-therapy. Without treatment, not only would Type 1 SMA children not be expected to see their second birthday, they also tend to have extreme difficulty with eating/ swallowing, breathing and would never be able to sit up on their own let alone stand or walk. Presently, Mason has never required feeding or ventilation support (though uses BiPAP at night to help give his body a break from working so hard to breath), and is currently working hard on his neck strength. Since treatment, he is also able to lift his limbs against gravity which was not possible at birth.

Although Mason has made a great deal of progress, we still don't know exactly what the future will hold. What we can say with certainty is how grateful we are to be able to connect with other Medical families through organizations like Little Wonders and the Love for Lewiston Foundation who have made sure we know we are not alone on our journey. The kindness we have felt through these organizations and others such as Muscular Dystrophy Canada and the Canadian Organization for Rare Disorder's who are working hard each and every day to advocate for patients and families, including ones like ours who never knew all those Firefighter Boots Drives (for example) we have supported over the years organized by Muscular Dystrophy Canada would have such a direct and positive impact on our lives, is like nothing else.

Although this journey has been completely unexpected, Mason has reminded us just how precious each and every day is and there is no milestone too small to celebrate.

Connect with Lindsay on Instagram @mybrothermason

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