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Steven Spohn, who has spinal muscular atrophy (SMA), has reached his goal of raising $1 million for his fledgling initiative for disabled gamers, “SpawnTogether.” The funding, which came through donations, will go toward gaming equipment and consultation for The AbleGamers Charity, a nonprofit organization that seeks to make…
The National Alliance for Caregiving, in partnership with Global Genes, has issued a free guidebook, available online, that offers resources and support for caregivers of children with rare diseases. “The Circle of Care Guidebook for Caregivers of Children With Rare and/or Serious Illnesses” was designed…
For nearly 3 years, I’ve been working with Michael as his primary clinician for physical therapy. Within the past month, I decided to move to a different physical therapy location in Ft. Worth Texas. A few weeks before the change was made, Michael and I discussed his physical therapy needs…
Difficulties with biting and fatigue while chewing are common among patients with type 2 and type 3 spinal muscular atrophy (SMA) who are unable to walk unassisted, a Dutch study reports. The findings highlight the need for interventions to help maintain muscle strength in the jaw of these patients…
People with spinal muscular atrophy (SMA) are living longer, attending college, pursuing a variety of careers, and traveling more, thanks to a combination of new disease-modifying therapies, better quality care, and improved rights for those with disabilities. It also means they now are encountering unique sets of challenges in…
Despite being mostly unaware of spinal muscular atrophy (SMA), most Japanese parents support newborn screening for the disease, according to data from a small survey-based study. The most cited reasons behind this support included the importance of early diagnosis and the fact that treatments are available. These findings add…
Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending the event in person in San Diego. “Here you’ll have the opportunity to connect and engage with others…
Sensory nerves — those responsible for transmitting sensory information — are progressively damaged in children with spinal muscular atrophy (SMA) type 1 as these patients age, according to a small study in Italy. Importantly, major functional deficits in the sensory nerves of both the arms and the legs were…
Participate in a paintball war. Meet Snoop Dogg. Be the first disabled person to go to space. These are just a few of the 40-plus items on Zarek DeMarco Elizondo’s bucket list. With his older brother, Zachary Markel Elizondo, by his side, Zarek, who has spinal muscular atrophy (SMA)…
Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for Rare Disorders (NORD) Summit, brings the rare disease community together to network and discuss developments in treatments and research…
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