The following was shared by CHI Development Director Pam Weber-Leaf:
CHI had a chance to raise hyperinsulinism (HI) awareness and connect with our peers in the rare disease space all over the Northeast corridor of the United States last month as part of international Rare Disease Day (RDD) 2026 observances.
On Feb. 20, I had the privilege of staffing a table for the organization at a celebration cosponsored by the Yale National Organization for Rare Diseases (NORD) Center of Excellence and the university’s School of Medicine Genetics Department. After welcome remarks by center Co-Director and genetics Professor Yong-hui Jiang about innovations in genetic testing, I was pleased to hear NORD’s Darby Gavin speak about the importance of collaboration between rare disease organizations to track data that drives broad-based policy change related to diagnosis and treatment access. Darby is Associate Director of Community Engagement for NORD, and it was great to meet her in person after exchanging emails; her enthusiasm is infectious. It was also great to be back at my undergraduate alma mater; the event was held at the school’s Peabody Museum, which reopened recently after a fantastic renovation I’d never seen. Thunderstorms that evening clearly hadn’t deterred families from making the trek to New Haven from all over the area, and when the kids weren’t doing organized activities, they had a blast running around among the life-sized dinosaur models in the adjacent exhibition hall. Animals of another stripe – and not the prehistoric kind — were also plentiful: stuffed zebras, the official mascot of rare diseases, were showing their stripes on every table. I found it truly gratifying to speak to people who were drawn in by CHI’s banner and ventured to my table, about HI and how the organization has reshaped the HI landscape. I chatted with representatives from other rare groups, including Kasha and Mike Morris from the Tango2 Research Foundation, from the same Chan Zuckerberg Initiative Rare As One cohort that funded CHI’s Collaborative Research Network (CRN). A large handful of people from biotechs that manufacture drugs for participating organizations, staff from Connecticut disability agencies and students and faculty from Yale Med stopped by as well. Thanks for the opportunity, NORD!
For our HI community, CHI hosted our own RDD celebration on Feb. 19. At this virtual meeting, some of our most active participants and Ambassadors for our HI Global Registry (HIGR) shared stories and updates, enjoying the camaraderie of this coming together across the miles and time zones. Attendees also heard presentations by CHI about HIGR’s critical role in providing lived-experience clinical data to drive research direction; our new Continued Glucose Monitoring (CGM) Access Program; the organization’s fundraising efforts; and our letter-writing campaign to hospitals encouraging newborn glucose screening. Regarding screening, CRN Lead Researcher Diva D. De León-Crutchlow summarized the clinical perspective. (Dr. De León-Crutchlow is Director of the Congenital Hyperinsulinism Center at Children’s Hospital of Philadelphia.)
The following week, I had the chance to be a part of New Jersey Rare Disease Day, held at the Make-A-Wish castle in CHI’s home state. It was wonderful to see Darby again and meet NJ Rare Volunteer Ambassador Particia Guerds, who had spent significant time planning the event, including a spirited “Family Feud” game. This time, I was an observer, and was able to visit exhibits for other rare disease organizations. In the presentation portion of the evening, I heard about medical breakthroughs, access to healthcare and other challenges some of the families experienced, as well as inspiring stories of triumph over adversity. A high point was taking a volunteer-led tour of the castle, an enormous structure painted a soothing blue-gray that opened 15 years ago on donated land. The building even has a space set aside for teens who can hang out a distance apart from their parents. Truly a singular experience!
That same day – Friday, Feb. 27th — CHI Associate Board Co-Chairs Amy Patterson and Hannah Raskin-Gross celebrated RDD at Johns Hopkins University Hospital! Amy is a genetics counselor at Johns Hopkins and led the event, which featured a full day of speakers and an advocacy fair for patient advocacy groups. Hannah held down the CHI table, educating medical students, Johns Hopkins hospital staff, and the public about HI and CHI’s work to support people with the condition and their families. Our organization is so proud to be a part each year in late February of this international observance, which affords us a platform for our mission to raise awareness, provide support, and advance research regarding this complex disease. And it’s no accident that we chose RDD as the day to kick off our most recent CRN Convening, in Madrid Feb. 27th through March 1. At this conference, CHI staff and other CRN members (researcher scientists, clinicians, and family members/advocates for people with HI) addressed the priority agenda for HI research next steps, and had a very successful series of discussions and workshops on topics including quality of life, clinical improvements and much more. Next up, RDD 2027!
