31 Days of SMA: Katie McIntosh

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by Kevin Schaefer |

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Day 26 of 31 Days SMA Topic: Every Day is a Gift This is @katiemcintosh85’s story: My daughter, Reena, was diagnosed with SMA type 1 at five months. We were concerned about low muscle tone and decreasing movement and took her to a paediatrician, expecting that she needed physiotherapy. It was terrifying to learn that she actually had a progressive muscle wasting disease. We were told that with treatment, she might be able to hold her head up and sit, but that she may never walk. Based on what we heard and read, we feared that she might not celebrate her first birthday. Fast forward to today and Reena is a delightful, social 18 month-old. She received her first dose of Spinraza the day after her diagnosis, and she’s grown stronger little by little. We were ecstatic just to see her hold her head up for short periods of time with support. At diagnosis, she had been able to wiggle her hands and feet but couldn’t lift them against gravity, so we were excited when she started to reach for objects and turn the pages of books. Reena was dosed with Zolgensma on June 10, 2020 at 17 months, shortly after her 6th dose of Spinraza. Zolgensma doesn’t yet have regulatory approval in Australia, but we were extremely grateful to receive government funding through a special access scheme. Reena can now sit unassisted for a few minutes at a time – something we were scared to even hope for just over a year ago! Her trunk control has greatly improved. She loves to kick her legs in the bath, and she’s working hard on rolling. We were always going to love Reena, but we cherish her even more fiercely after facing the possibility of losing her. We are so thankful that treatment is available here, but she would not be any less valuable if she had never met any motor milestones. I’d be lying if I said there aren’t ongoing challenges, but we thank God for every day that we have with Reena, and take great joy in being her parents. We now join those advocating for newborn screening and early treatment to help give the next generation of SMA children the best chance at healthy lives. #SMAAwarenessMonth #SMAAwareness #31daysofsma2020

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