As we develop programs and resources to empower our diverse community, we ask participants to select the response that best reflects their race and or ethnicity:
Asian or Asian American
What rare disease(s) do you represent?
Native American Myopathy (STAC3 Disorder)
How many years have you been involved with rare diseases?
1-5 years
Biography
Magnolia’s cultural background as a Taiwanese Indigenous, passion to connect with patients, and research experience have impelled her to raise awareness for Native American Myopathy (NAM) and bring equity in health research to marginalized communities.A student at UPenn, Magnolia is a dedicated advocate for NAM, a debilitating rare disease that disproportionately affects members of the Lumbee Tribe in North Carolina. Seeking to uncover the lived experiences of NAM patients and families, she conducted a quality-of-life study with Dr. Cynthia Powell, a NAM research pioneer. Magnolia discovered that quality-of-life declined sharply during the transition from adolescence to adulthood, affecting all four domains of physical, emotional, social, and school/work functioning. She also found that NAM routinely impacted a significant portion of patients—approximately a quarter frequently missed school or were sick in bed, and half required caregiver assistance.
Connecting with patients and families during their visits, Magnolia realized that rarity didn’t simply apply to the prevalence of the disease, but to the attention it receives and the diagnostic treatments being developed. Eager to enhance their visibility, she took her advocacy a step further and established STAC3.com, a website that not only aims to increase awareness of the genetic condition, but also to spur research and develop a cure for the vastly underserved but highly-needed patient population.
As a clinical research coordinator at CHOP Human Genetics, Magnolia spearheads a Moderna-sponsored study in propionic acidemia. Recognizing that rare disease is a global issue, Magnolia expanded CHOP’s global outreach by recruiting patients from Mandarin-speaking countries.
She looks forward to sharing her experiences with the LRLS Forum, while raising critical questions necessary to instigate investigative efforts toward improving current treatments and their accessibility to under-resourced communities.
I am within 400 miles of driving distance from Los Angeles, CA. I plan to be in CA at the time of the Forum.
Presentation Information
Proposed Presentation Title
Shining a Light on Native American Myopathy (NAM): Advocating for Healthcare Equity and Accessibility for the Rare Disease Community
Presentation Summary
I will share how I built an advocacy organization from scratch to raise awareness of NAM, expand genetic screening, and bring equity in health research to marginalized communities. By serving as a team player and advocate for NAM awareness, my narrative exemplifies the power of stakeholder collaboration in collectively searching for solutions and tackling rare disease.Due to rarity and healthcare disparities, genetic conditions that are disproportionately prevalent among Indigenous groups have not yet attracted public attention or research developments. I created STAC3.org in Fall 2021 to raise awareness of NAM, the genetic disorder affecting limb development among Lumbee Tribe members in North Carolina. Through this platform, I’ve engaged with NAM patients and families who have reached out for additional resources on their condition.
To gather different perspectives, I recruited an advisory panel, including Dr. Cynthia Powell of University of North Carolina School of Medicine who pioneered the clinical characterization of NAM, and Dr. Kurt Beam of University of Colorado, who characterized STAC3 mutation as the genetic basis of NAM. I’ve also conducted a study with Dr. Powell to examine quality-of-life and healthcare access of patients with NAM, and evaluated their perspectives towards genetic screening, counseling, and caregiver burden.
I was inspired by the NORD Light Up For Rare event and sought to raise awareness on my campus and local community. I worked with Dr. Daniel Rader and Stephanie Asher to program Penn Pavilion with NORD colors, and was among the first “light-up” organizations! I also proposed the event to the Mayor of Livingston, NJ, and we worked together to organize the first-ever “light-up” in town. I was enthralled by the overwhelming inquiries and coverage STAC3.org has received (Rarediseases.org, Penn Today, HUPdate, TAPinto newsletters). I plan to continue raising awareness of NAM by working with lobbyist groups to gain recognition and benefits for rare disease patients through legislation. I am also collaborating with fellow students who have personal interests or experiences in the orphan disease community; we established the NORD Students for Rare chapter at UPenn, and will continue to educate and encourage our peers to become involved with rare disease advocacy.
Have you spoken previously for NORD?
No
Have you previously spoken at any rare disease events or are you planning to speak at any upcoming events within the next year?
Yes
If yes, please list the name and dates of your speaking engagements .
Global Genes RARE Health Equity Summit, November 2022
Please provide up to 3 examples of previous presentation experience, include links to videos if applicable.
1. Participated in panel discussion of the Global Genes RARE Health Equity Summit in Atlanta, GA to raise awareness of Native American Myopathy, address underrepresentation in rare disease research, and drive promise towards practicing health equity.https://www.youtube.com/watch?v=fgccqbee42A&ab_channel=GlobalGenes-AlliesinRareDisease
2. Selected for oral presentation at 68th Annual Meeting of the Society for Reproductive Investigation (SRI) in Boston with highest-scoring abstract in Placenta category. Presented research on the Regulation of NLRP3 inflammasome activity in placental Hofbauer cells to SRI Executive Board and field experts.
3. Presented at Livingston Town Hall Meeting on January 24, 2022, and successfully lobbied Livingston Town Council to declare February 28 as Rare Disease Day and light up Town Hall in NORD (National Organization for Rare Disorders) colors to promote awareness of STAC3 in hometown community.
https://youtu.be/UPHIlfxQ-4U
Target Audience:
Given that my proposed presentation encompasses the topics of genetic disorders, healthcare accessibility, and socioeconomic disparities, I seek to reach and inspire patients, families, and caregivers of the rare disease community; academic faculty and investigators in basic and translational research; scientists and developers of therapeutics for orphan diseases; as well as grassroots movements, lobbyist groups, and pertinent government agencies.
Learning Outcomes:
1. Anyone can advocate in the fight against rare disease—individual work counts. Through collaboration, we can collectively search for solutions, take action, and bring effective change.2. To best advocate for the rare disease community, we must understand the humans behind the disease. Concurrently, academia should encourage research and collaboration to devise therapeutic strategies and better current treatments for orphan disease.
3. Everyone should have equal access to quality of life. Every effort should be made to bring equity to marginalized groups for the betterment of society.
Consent
As a potential speaker for the Living Rare Living Stronger Patient and Family Forum I agree:
– To participate in a panel prep meeting with all speakers in the session between 3 and 4 weeks prior to the conference. (60-minute time blocks will be arranged via calendar invite).
– To use the NORD branded slide deck for any presentation decks that need to be created.
– To register in advance for the conference no later than April 30th. (A complimentary registration code will be provided).
– To respond within 72 business hours to all emails.
– To notify NORD as soon as possible if my participation in the conference becomes no longer possible so that an appropriate replacement can be identified.
As a potential speaker for the Living Rare Living Stronger Patient and Family Forum I agree: