Mary Chapman, features writer —

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

The Cure Sanfilippo Foundation will be among those presenting posters at the WORLDSymposium 2021 conference on lysosomal storage disorders such as Sanfilippo syndrome, held virtually Feb. 8–12. “This is the conference where most of the scientists and researchers in the field of lysosomal storage diseases come together to…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…

There may come a time when you will need to consider palliative care for your child with Sanfilippo syndrome, and for your family. Here’s some information that may help in making that decision. About Sanfilippo syndrome Sanfilippo syndrome is a neurodegenerative disorder. Mutations in genes that provide instructions necessary for…

Sanfilippo syndrome is a neurodegenerative disorder that affects about one in 70,000 births. Because it’s rare, many physicians are unfamiliar with it and its treatment. This could pose a problem, especially in an emergency. If your child has Sanfilippo syndrome, working with his or her primary care physician to develop…

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…

Clinical trials are an essential step in treatment development, yet the many people they could potentially help are either unfamiliar with the studies or unsure about what they entail. To help remedy that, the Sanfilippo Children’s Foundation has developed fact sheets about clinical trials. The family resource…

If your child has been diagnosed with Sanfilippo syndrome, you may be feeling mixed emotions, from shock to concern to the relief that certainty can bring. The disorder is so rare that this diagnosis may have taken years. In any case, you may be thinking, “Now What?” Here is some…

To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…