The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…
News
Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…
Taysha Gene Therapies and Invitae have announced a partnership to support Invitae’s Detect Lysosomal Storage Diseases (Detect LSDs) and Behind the Seizure programs by offering free genetic testing to patients. The Detect LSDs program aims to enable the rapid diagnosis of lysosomal storage diseases such as…
One of the children participating in the Phase 2/3 trial of LYS-SAF302, Lysogene’s gene therapy candidate for Sanfilippo syndrome type A, has died. The exact cause of death is currently unknown, and there is no clear evidence yet to indicate it might be related to treatment, according…
The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases. “The RareLaunch program is…
Hearing loss is the most common auditory complaint among young patients with different forms of mucopolysaccharidosis (MPS), including Sanfilippo syndrome, a small study suggests. According to investigators, these findings highlight the importance of routine tests to monitor hearing quality in these patients, and assess when hearing rehabilitation should be…
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…
Recent Posts
- Screen time is a lifeline for our daughter with Sanfilippo syndrome
- Physical therapy eases pain, improves life for Sanfilippo kids: Study
- Being a Sanfilippo parent means facing impossible decisions
- UX111 gene therapy shows long-term benefit in Sanfilippo type A: Trial data
- Our respite caregiver provides much-needed help
- Study says U.S. Sanfilippo societal cost will top $2B over 20 years
- Bone marrow transplant helps hand-eye coordination in Sanfilippo child
- The support system that allows my special needs child to thrive
- Enzyme therapy directly into the brain tested for Sanfilippo type D
- I’m finally seeing a therapist, 3 years after my daughter’s diagnosis