Mary was 4 months old when her parents, Ryan and Kate Nelson, suspected something wasn’t quite right with their daughter; she wasn’t bearing weight on her legs nor was she lifting her head like their friends’ babies. Mary’s pediatrician referred them to a neurologist who presumed Mary had a stroke in utero, so he ordered […]
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At 7 months old, Sarah Zmaczynski’s parents, Jill and John, noticed their daughter couldn’t bear weight on her legs. Sarah’s pediatrician responded with the “kids develop at different rates” speech. As John has a family history of late walkers, the Zmaczynski’s thought maybe their worries were unfounded. Although one in 50 people carry the genetic
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In 2014, Doug McCullough gave a TEDx talk at a Johnson & Johnson event in New Jersey that focused on disability inclusion in the workplace. His speech, A Billion People in the Shadows, represents the 1 Billion people worldwide who are affected by a disability. Cure SMA recently spoke with Doug about his TEDx talk
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The 2018 Cure SMA Concert for a Cure raised $210,000 on April 21, 2018. After combining many years of fundraising and hard work, the 18th Annual Concert for a Cure reached a very exciting milestone of $2 Million. “We are still in awe of the dedication, support and commitment that our families have received. Our
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In this Community Spotlight, Victoria Colone delves into the complexities of early diagnosis and treatment as a mom navigating the world of healthcare for her child with SMA. Victoria Colone was 22 weeks pregnant when she learned through an amniocentesis test that her son, Jaxon, had SMA Type I. Despite her OB/GYN and genetic counselor
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The 2018 SMA Standards of Care recommendations were published in Neuromuscular Disorders in February 2018 and March 2018 and are available online through Open Access for families and healthcare providers. These documents are updates of the Standard of Care document issued in 2007. The 2018 recommendations emphasize that “a multidisciplinary approach is the key element
Updated 2018 SMA Standards of Care Statements Available Online Read More »
Last night, Governor Bruce Rauner of Illinois signed SB 456, adding spinal muscular atrophy (SMA) to the state’s newborn screening panel. The bill adds Illinois to a number of states who have already adopted permanent SMA screening, including Missouri, Utah, Minnesota and Indiana. The legislation was sponsored by Senators Julie Morrison, Michael Connelly and Thomas
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The guest blog post below was written by Heather Tomko, sharing her experience in the Ms. Wheelchair USA 2018 pageant. She is the reigning Ms. Wheelchair USA in addition to being a public health researcher and masters student. Heather is a lifelong Pittsburgh resident and lives with SMA Type II. Being in a pageant is
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The SMA Researcher Meeting is the largest research meeting in the world specifically focused on SMA and seeks to create open communication of early, unpublished data to accelerate the pace of research. The meeting also furthers research by building collaborations—including cross-disciplinary dialogue, partnerships, integration of new researchers and drug companies, and educational opportunities for junior
2018 SMA Researcher Meeting Summary: SMA Therapy Development Read More »
At 10 years old, Brynne Willis knew something was wrong; it was time for the Presidential Fitness Test required by public schools and she kept falling behind her peers. “I kept falling every time I tried to run and was the last to complete the one-mile run,” said Brynne. Worried about the cause of her
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