Mary Chapman, features writer —

The genetic disorder Sanfilippo syndrome, also known as mucopolysaccharidosis type III, is so rare that most physicians are unfamiliar with it. So, it is not surprising that it may have taken years for your child to receive an accurate diagnosis. Learning the cause of your child’s symptoms often puts you on a…

Sanfilippo syndrome is a neurodegenerative disorder that affects about 1 in 70,000 births. Raising awareness of this rare genetic disease could mean that more patients would benefit from earlier diagnosis and treatment. Here are some facts about Sanfilippo syndrome, and efforts to make it more widely…

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…

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…

Eating and drinking can be problematic in Sanfilippo syndrome, a rare neurodegenerative disorder characterized by intellectual and behavioral disabilities. Finding out your child may need a feeding tube can be overwhelming, particularly when other medical issues are present. Here’s some information that may help. What is Sanfilippo syndrome? Sanfilippo syndrome…

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,…

The Canadian Glycomics Network (GlycoNet) has granted $3.9 million in funding for research projects aimed at mitigating the healthcare burden in Canada and contributing to a better understanding of diseases, including Sanfilippo syndrome. The recipients — multidisciplinary research institutions and their industry partners — will use the funding…

Because of Sanfilippo syndrome‘s progressive behavioral and intellectual disabilities, it’s likely your child will need aids and adaptations to help with everyday life. The following information may be useful as you consider those options. About Sanfilippo syndrome Sanfilippo syndrome typically progresses in three stages, beginning with developmental…

The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…