Stephanie and Sam noticed early on that their daughter Stella wasn’t reaching her expected milestones. However, when the concerned parents sought medical advice, no one could tell them what was wrong.
Stella was sleepier than other babies and had a difficult time moving. She was 14 months before she could even sit up on her own. Without a formal diagnosis, though, Stephanie and Sam were left in the dark – not knowing what was affecting their daughter’s development or how they could help. “I felt like I did something wrong, and I went through a really hard time,” Stephanie shared.
Stella’s family spent three long, stressful years hoping and searching for answers. Finally, in March of 2019, Stella was diagnosed with PURA Syndrome; an extremely rare genetic disorder discovered in 2014, just two years before Stella was born. To date, there are only 300 known cases worldwide.
PURA Syndrome occurs when one of a person’s two copies of the PURA gene does not function normally. It is the result of an ‘out of the blue’ irregularity during pregnancy and is not considered hereditary.
PURA Syndrome can have a wide range of symptoms. For Stella, the condition has caused severe hypotonia, which is a state of low muscle tone. This means that Stella must work extra hard to get her muscles moving and seemingly small tasks, like eating or standing up, can take an enormous amount of energy.
Getting through a regular day can be exhausting for Stella, but that never stops her from lighting up at the sound of her big brother Mason’s voice: “She loves her brother. He can say anything and she laughs so hard,” Stephanie remarks. Stella has undoubtedly enjoyed the extra time at home with Mason, who normally attends kindergarten, over these last few months. However, the COVID-19 pandemic has also resulted in several new challenges for Stella and her family.
Prior to the pandemic, Stella attended physical therapy multiple times a week. She is working on developing her strength and balance, but she still requires equipment to move on her own. Without equipment “she can’t get around the house,” Stephanie explains. “When I need to do housework I feel guilty because she needs me to help her move and play.” On top of this, not having regular access to physical therapy has caused a regression in Stella’s development – making her need for mobility and accessibility equipment even more urgent.
Earlier this year, Easter Seals Ontario helped Stella’s family purchase a car seat that supports her spine and reduces her risk of developing scoliosis. With this piece of equipment, Stella can now enjoy the freedom of riding safely in the car with her family. “Financially [the support from Easter Seals] has been great,” Stephanie says. “Equipment for kids with special needs is extremely expensive.”
Unfortunately, COVID-19 has only introduced even more barriers for Stella, and children like her, in accessing the essential accessibility and mobility equipment they need. Without equipment, “she doesn’t have freedom,” Stephanie explains, and “equipment is essential because [kids with disabilities] need their freedom.” It is only through to the generosity of donors that we can continue to break down barriers and provide freedom to children like Stella. Thank you for your support.
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