Foundation honors PI community supporters at 2024 conference

The Immune Deficiency Foundation (IDF) has hundreds of volunteers and thousands of constituents. While all play a vital role in the mission of strengthening the primary immunodeficiency (PI) community, some make outstanding contributions. IDF recognized those special individuals at last month's 2024 PI Conference in Chicago.

“As an organization, it's important to acknowledge the accomplishments of these dedicated individuals who have excelled in their efforts to share their expertise, time, and resources. We all benefit from their compassion and commitment to our community, and these awards represent our deep appreciation for all they’ve done. It’s our simple way of saying thank you,” said IDF President and CEO Jorey Berry. “We truly would not be who we are today without their help.”

The six award recipients earned accolades for their scientific and healthcare achievements, leadership roles, strides in advocacy and awareness, and fundraising efforts.

Immunologist Dr. Donald Kohn earned the Boyle Scientific Award which pays tribute to a member of the medical community who has contributed extensively toward improving the diagnosis and care of patients with PI. Kohn is a distinguished professor at the University of California, Los Angeles (UCLA), and director of the UCLA David Geffen School of Medicine Human Gene and Cell Therapy Program.

Kohn has devoted his career to developing gene therapy for PI, including for adenosine deaminase severe combined immunodeficiency (ADA-SCID) and leukocyte adhesion deficiency-I (LAD-1). Kohn’s LAD-1 work is the basis of Rocket Pharmaceutical’s gene therapy product, awaiting review by the Food and Drug Administration (FDA). More recently, he’s focused on gene editing for a PI that has been difficult to address with traditional gene therapy—X-linked agammaglobulinemia (XLA).

In his XLA work, Kohn is developing gene editing as a more precise approach to correct gene variants. His lab’s research has shown that the treatment works in human cell lines and non-XLA stem cells without significant side effects. The work has garnered grant support from several research funding organizations, including $4.8 million from the California Institute of Regenerative Medicine (CIRM), and Kohn earned the IDF Michael Blaese Research Grant Award in 2023.

Jennifer Wright, RN, was presented with the Art of Nursing Award, an award that honors a member of the immunologic nursing community who has made exceptional contributions to clinical practice, lay and professional education, and research. Wright is the clinic coordinator of the Ataxia-telangiectasia Center at Johns Hopkins Hospital in Baltimore, Maryland.

In her role as clinic coordinator, Wright works with a multi-disciplinary team to provide healthcare services for those diagnosed with ataxia-telangiectasia (A-T), a rare PI. At the center, patients see sub-specialists for care related to immunology, pulmonology, neurology, speech and swallow therapy, and other health needs. Wright schedules patient visits, arranges their travel and housing, meets their language, dietary, and religious needs, and ensures that they get appointments with the providers.

The inaugural Mary Rath Emerging Leader Award went to 18-year-old Taylor Swinehart. Named after Mary Rath, mother of former IDF Board member Brian Rath, the award honors Mary Rath’s legacy of service and passion for IDF’s youth and young adult programs and recognizes a teen or young adult for their efforts and commitment to serving the PI community through leadership.

An Indiana resident and 2024 high school graduate, Swinehart, diagnosed with PI, will attend Saint Francis University’s nursing program in the fall and intends to build a career as a pediatric nurse practitioner. Involved with IDF since 2019, she’s organized fundraising Walks for PI in her community and hosted a fundraiser each year for her birthday. Most recently, she became a member of IDF’s Youth Advisory Committee, where she contributes her ideas and insights to youth programming and events.

Volunteer Sandy Parkington earned the PI Community Hero Award for her dedication as a Get Connected Group (GCG) co-leader in both Southern California and North Carolina, where she resides. Through virtual meetings, GCG groups offer individuals diagnosed with PI and their family members the opportunity to connect, share experiences, and receive support in their local communities. Parkington is highly engaged during IDF’s webinars, provides thoughtful feedback on surveys, contributes regularly to IDF social media posts, and shares her PI diagnosis story in IDF’s first “Undiagnosed” podcast episode.

“Sandy is so approachable, has such a gentle manner, and is always available to step up and spread awareness about IDF and PI in the community,” said Berry.

For his extraordinary efforts in fundraising for IDF and building a global understanding of both PI and IDF, Connor Colquhoun received the IDF Impact Award. An influential Twitch streamer, YouTuber, voice actor, and podcaster, Colquhoun, known online as CDawgVA, has raised almost $2.2 million for IDF over the last two years by hosting three cycle-a-thons across Japan, where he lives, and a charity auction in Los Angeles. Funds raised by Colquhoun directly benefitted the PI community by providing travel scholarships to over 400 of those attending the 2024 PI Conference, representing half of all attendees.

During his most recent 14-day cycle-a-thon, Colquhoun streamed daily, receiving 10 million views, and took the time to explain PI and IDF’s mission. He ended his ride at Tokyo Tower where a crowd of fans greeted him in person and a banner with the IDF logo arched across the finish line. With that ride, he raised over $1 million for IDF, more than the other two rides combined. 

Close friend and fellow Twitch streamer Ironmouse, who is diagnosed with common variable immune deficiency (CVID), inspired Colquhoun to fundraise for IDF. He acknowledged her role in enlightening him about PI and getting him involved with IDF.

“I find that often it’s the people that we really care about who… force us to learn about stuff we’ve been ignorant about or that we’ve allowed to be ignorant about because we haven’t had to deal or be exposed to any of the ideas. And I took every opportunity I could to give back and help people with CVID or PI,” said Colquhoun in a pre-recorded speech shared during the conference. “I’ve always wanted to use my platform in a way that would help people and enable them to have better lives. And I’m so, so happy that I chose the IDF.”

Rounding out the honorees is Ironmouse herself, who earned the Plasma Hero Award for using her talent, creativity, and initiative to spotlight the importance of plasma donations. In addition to being a singer, Ironmouse is a virtual YouTuber, or VTuber, who streams on YouTube and Twitch using an animated avatar. During her stream, Ironmouse explains to her more than one million followers how PI impacts individuals and families, describes immunoglobulin (Ig) replacement therapy, and encourages those who follow her to donate plasma for use in vital treatment.

“Both Connor and Ironmouse have impacted IDF and the PI community beyond what we could have ever imagined. Their reach is global and touches people of all ages, but especially the younger generation, who now know about our organization, PI, and the importance of plasma donation. We could never have accomplished spreading awareness on such a scale without their help. And the funds being raised have allowed us to serve our mission in ways we never thought possible," said Berry.