UltraAdvocates: Leading change for rare disease communities

Uniting for healthcare improvements and reform.

Matt Harutunian

Vice President, Patient Advocacy

Leading change for rare disease communities

In the U.S., over 10,000 rare and ultrarare diseases cumulatively affect 25-30 million Americans, which is more than twice the number of people living with cancer1. For some people living with or caring for a child living with one of these conditions, building community with others, raising awareness, and advocating for changes to the healthcare system can be key to reinforcing their sense of hope and resilience.

At Ultragenyx, as we advance innovative medicines for rare and ultrarare diseases, without approved treatments, we’ve had the honor of meeting many of these extraordinary individuals.

This Rare Disease Day, we introduced the UltraAdvocates, a group of community advocates who are impacted by rare and ultrarare diseases that we’ve brought together to champion change for rare and ultrarare communities through direct advocacy and community engagement.

Meet our first group of UltraAdvocates

When Amber, now 40, was born with Osteogenesis Imperfecta (OI), also known as brittle bone disease —a group of genetic disorders that cause bones to be fragile and easily broken2—doctors said she might not survive. Amber defied the odds and went on to be one of the first children to participate in the National Institutes of Health’s pioneering OI medical research program, which studied the rare bone disease. She later welcomed a daughter, Emma, who was also born with OI. The two draw strength from one another through their shared experiences, the time they carve out for each other, their strong bond, and their connection to the broader OI community.

“In-person communities feel like home, worth a trillion, million, gazillion dollars—like gold or heaven,” Amber Gray said. “You’re not judged or looked at funny, no weird stares or questions about your abilities. It’s just normal, effortless interaction, and it’s amazing to have four or five days of that.”

Photo: Amber and Emma Gray

Photo: Weinberg Family

Ashley Weinberg, whose son Conner lives with Angelman syndrome, a lifelong neurodevelopment disorder,3 was eager to join the group, noting that since Conner’s diagnosis, she has found a passion for advocating for the community in big ways.

“It’s a passion and my outlet. It helps me cope with my own issues by staying busy and focusing on helping others. I’d rather guide people towards the light at the end of the tunnel than see them lost in darkness without direction. Everyone needs a healthy outlet, and this is mine,”
Ashley Weinberg shared.

Meri Gussin’s son, Jamie, lives with glycogen storage disease (GSD) type Ia, an ultrarare genetic disorder that affects how the body stores and uses glycogen, impacting the liver, kidneys and other organs.4 Gussin, seeing opportunities for advocacy on the horizon, was thrilled to join and participate in the UltraAdvocates program.

“I think this is the best time for GSD, with pharmaceutical companies pursuing treatments. I do believe a meaningful treatment will emerge that significantly impacts quality of life,” Meri Gussin said. “I feel we have real reasons to be hopeful right now.”

Photo: Jamie and his father, Grant

Photo: Sadie and her mother, Ashley

Ashley Haywood, whose daughter lives with Sanfilippo syndrome type A or MPSIIIA, an ultrarare disease that impacts the brain and spinal cord,5 echoed Gussin’s enthusiasm for kicking off the UltraAdvocates. Haywood, who has reached more than 260,000 followers on social media, is excited to continue leveraging her skills for good.

“We initially thought we would just reach family and friends, but it’s amazing what social media can do for awareness,” Haywood said. “It’s kind of crazy, but in a good way.”

The advocates gathered for their first meeting last month, where they discussed how they can engage together to create change, including supporting advances that could improve patient access to innovative therapies in the diseases that impact those in the group directly. In the coming months, they aim to foster community-centered decision-making across the healthcare ecosystem including in areas such as regulation, commercialization, payer coverage, and reimbursement.

By creating awareness and advocating for change, the UltraAdvocates hope to transform the landscape for those living with rare and ultrarare diseases. Stay engaged by exploring the Ultragenyx website to learn more about our advocacy work, and be sure to look for our advocate spotlights and future events on social media.

References:

Rare disease day: Frequently asked questions. (n.d.). https://rarediseases.org/wp-content/uploads/2019/01/RDD-FAQ-2019.pdf
Osteogenesis imperfecta. Nation Institutes of Health: MedlinePlus Website. https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta/. Accessed February 5, 2025.
Angelman Syndrome. MedlinePlus website. https://medlineplus.gov/genetics/condition/angelman-syndrome/. Published October 29, 2019. Accessed February 5, 2025.
“Glycogen Storage Disease Type 1A | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program.” Rarediseases.info.nih.gov, rarediseases.info.nih.gov/diseases/7864/glycogen-storage-disease-type-1a. Accessed February 5, 2025.
Pearse Y, Iacovino M. A Cure for Sanfilippo Syndrome? A Summary of Current Therapeutic Approaches and their Promise. Med Res Arch. 2020 Feb 1;8(2):10.18103/mra.v8i2.2045. doi: 10.18103/mra.v8i2.2045. Epub 2020 Feb 21. PMID: 32733997; PMCID: PMC7391468.