Author Archives: Mary Chapman

Rare Disease Day at NIH, Set for March 1, Growing Year by Year

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

Cure Sanfilippo Foundation Heralds New Awareness Day in Ohio

For nearly two years, an Ohio couple shared the heartbreaking story of their young son’s diagnosis with Sanfilippo syndrome, seeking to raise awareness about the rare genetic disease they had never heard of until it affected their own child. Then some friends got involved, one thing led to another,…

Pandemic Won’t Stop Rare Disease Day on Feb. 28

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…

Cure Sanfilippo Foundation Presenting at WORLDSymposium 2021

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…

NORD’s 6th ‘State Report Card’ Notes Progress, Raises Concerns

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…

NORD’s Caregiver Respite Program Continues Through Pandemic

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…

Palliative Care for Sanfilippo Syndrome

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…

Developing a Treatment Plan for Sanfilippo Syndrome

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…