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An emotional video about a boy with Sanfilippo syndrome and his parents’ fight to save him has raised about $244,000 toward a first-ever clinical trial that could give the youngster and others a chance at life. The two-and-a-half-minute “Save Connor” video, which has “gone viral,” raised $100,000 in…
A photo of a bespectacled young boy, his red baseball cap slightly askew as he enjoys time outside, will be featured on the front cover of an upcoming calendar in the “Same But Different” contest to raise awareness about rare disorders. “A Lovely Day Out in Kew Gardens,”…
A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…
On Nov. 16, World Sanfilippo Awareness Day, supporters will bring global attention to the rare neurodegenerative disorder, hopefully sparking conversations globally about the community and its needs. From sharing images on social media and using a special Facebook photo frame, to displaying the official Awareness Day logo and participating…
Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions…
An accurate and early diagnosis of Sanfilippo syndrome type C can be difficult, as this subtype is quite rare, but important to prevent life-threatening complications and improve life quality, a case report highlighted. The report, “A Rare case of Sanfilippo syndrome type ‘C’,” and published in the Indian…
A new initiative led by the Cure Sanfilippo Foundation is seeking to provide more insight on the impact of remote learning on children with Sanfilippo syndrome and other developmental disorders. The advocacy effort is being spearheaded by the organization’s chief science officer and co-founder, Cara O’Neill. The goal…
Sanfilippo syndrome patients and caregivers are being asked to help speed the development of potential disease treatments by joining AllStripes, and contributing their de-identified medical records to research efforts. The San Francisco-based company, previously known as RDMD, uses its rare disease research platform to aggregate and analyze such information,…
Problems with one or more senses are common in people with Sanfilippo syndrome and other mucopolysaccharidoses (MPSs), but there is very little research into how these impairments affect daily living or life quality, a new paper indicates. Collecting data using questionnaires or forms filled in by patients that…
Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…
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