We are so grateful for your continued interest in the work of Congenital Hyperinsulinism International. 2024 has been a year of tremendous growth for CHI; we welcomed two new staff members – Kristen Rohli, PhD as our Research Manager and Pamela Weber-Leaf as our Senior Development Consultant – and continued to expand our programs promoting research, support and education, and awareness, the key pillars of CHI’s work. Join us as we reflect on this pivotal year.
Research
The Million Dollar Bike Ride
In June, nineteen members of “Team CHIbra” gathered in Philadelphia to support hyperinsulinism (HI) research at the Million Dollar Bike Ride (MDBR) for the eleventh consecutive year. The event was a huge success and will result in funding two HI research grants for a combined total of over $140,000 that will begin early next year. You can read more about the event at our blog post and view previous MDBR research grants here.
Celebrating the HI Global Registry’s 6th year!
The HI Global Registry (HIGR) – the only international, patient-powered global registry for people with hyperinsulinism – has had quite an exciting 6th year! Participants and their caregivers can now complete surveys in 8 languages (English, Spanish, French, Italian, Portuguese, Korean, German, and Dutch), aiding in our mission to understand more about hyperinsulinism globally. Additionally, HIGR expanded HI research by implementing Continuous Glucose Monitor (CGM) integration with the platform, unlocking an important and often missing component of HI research.
In the six years since launching, HIGR has grown to become a valued source of scientific information within the HI research community. Physicians and researchers acknowledge the importance of the individual and family experience with HI and are keen to learn more from the HI community. In 2024, we received 17 different requests for HIGR data! These included:
- Data to support new recommendations for hypoglycemia screening in newborns
- Data to explore new research ideas and to start new research projects
- Data to support grant applications for HI research funding
- Data to support advocacy and awareness at international family conferences
HIGR data that was published this year may have an impact on future newborn screening guidelines. The data was used to demonstrate the limitations in current screening guidelines to correctly identify newborns with HI: “These data from the Hyperinsulinism Global Registry show that current clinical practices are not effective in screening for CHI,” Kasier et al., Journal of Clinical Medicine (2024).
Individuals who have been affected by HI and their caregivers may participate in HIGR, which is an important resource for current and future research studies that may lead to improved care for people with HI. You can learn more at www.higlobalregistry.org
Exciting Development for the LightCure Grant!
In January 2024 the 11-member research consortium LightCure began its work, and CHI is a partner in this cutting-edge multi-year project. The consortium scientists are developing a targeted photodynamic therapy that one day could be a promising treatment for congenital hyperinsulinism (HI). The focus of CHI’s work is the creation and management of the patient advisory board for the project, strengthening patient engagement in research through the HI Global Registry, informing the patient community of the research initiative and upcoming research trials, and raising awareness of HI and its myriad challenges.
This research and awareness initiative is made possible by a 72-month-long grant of just over €8.2M from the European Union research arm Horizon.
Updates from the Collaborative Research Network (CRN)
Throughout the year, the CHI CRN have been meeting in workgroups virtually to discuss and make progress on key items as identified in the prioritized research agenda. In February, CHI’s Collaborative Research Network (CRN) wrote a letter to the American Academy of Pediatrics (AAP), urging them to adopt stronger hypoglycemia guidelines to ensure successful screening and treatment of hypoglycemia to prevent brain damage. This letter was submitted at a particularly timely moment when the AAP was in the process of updating and finalizing the US national guidelines for detecting neonatal hypoglycemia. The CRN wrote that they “strongly believe that the current guidelines do not adequately identify and manage all affected individuals.”
Just last month, the CRN released three documents as our Advocacy Statements. The need for these statements arises from discussions with hundreds of parents, young people, doctors, nurses and other professionals from around the world. The statements include a multi-page overview of the action needed upon a HI diagnosis, a single-page version of this overview, and a List of Essential Medical Care, Medication, Supplies and Services for people with congenital hyperinsulinism (HI).
The Chan-Zuckerburg Initiative (CZI) Rare As One (RAO) Impact Report
In 2020, CHI was selected to be one of the inaugural awardees through a competitive grant program of RAO. This “$13.5 million funding to 30 patient-led organizations was aimed at supporting and lifting up the work that patient communities are doing to accelerate research and drive progress in the fight against rare diseases.”
Earlier this month, the CZI Rare As One Impact Report was published. The impact report summarizes the progress made by the grant recipients on the scientific collaborations formed to better diagnose, treat, and eventually cure rare diseases, all fueled by the passion of the patient communities affected by this disease. Read the impact report to learn how inclusion in the RAO network has fueled tremendous progress in the HI world through the creation of the CHI CRN.
Article on Congenital HI Birth Prevalence
In June, “The Birth Prevalence of Congenital Hyperinsulinism: A Narrative Review of the Epidemiology of a Rare Disease” was published. This manuscript includes authors from our CHI Collaborative Research Network, Centers of Excellence, and CHI staff members. An evidence-based estimate of HI birth prevalence is essential to improve diagnosis and patient management, to drive clinical research and the development of new treatments, and to inform public policy.
Support and Education
Rare Disease Day 2024
CHI celebrated Rare Disease Day with members of the HI community over Zoom. In honor of this special day, we had a wonderful discussion and asked community members to share their stories, challenges and hopes. This event was part of our “Dare to Dream” initiative that inspires the action of doctors, researchers, and advocates to work towards a better life for those with hyperinsulinism.
Eight Centers of Excellence Announced!
In July, we announced eight 2024 Center of Excellence (COE) designations. Our COE program recognizes expert centers around the world that provide the highest level of multi-disciplinary care to congenital hyperinsulinism patients and their families. To view the list of our 2024 COEs and read more, including our press release and the history of the program, visit the COE page.
Family Conferences
CHI hosted a joint Family Conference with the CHI COE Cook Children’s in Fort Worth, TX. Doctors, researchers, and HI families gathered from all over the world to share their expert knowledge and learn from each other. The conference was jam-packed with presentations highlighting the expertise of Cook Children’s clinical staff, as well as guest clinical and biotech speakers. HI family members shared the lived experience of HI through HI-Stories. The weekend ended with a performance of our educational HI song “Down and Up” by HI kids and family members and a fun trip to the Fort Worth Zoo.
Our final Congenital Hyperinsulinism Family Conference of 2024 was held in Liverpool, UK as a collaboration between CHI and the Children’s Hyperinsulinism Charity UK (CHC). The conference was a huge success, bringing together HI families and experts in the field to share knowledge, ask questions, and learn from each other. Doctors from all eight CHI COEs were in attendance, and each highlighted the unique facilities within their Centers as well as the level of expertise of their staff. For the first time, a small part of the conference was available to watch via live stream, connecting us to viewers in Bosnia and Herzegovina, Portugal, Pakistan, Jamaica, The Netherlands, and more.
Another Successful Sugar Soirée!
The 2024 Sugar Soirée was a heartfelt celebration of the hyperinsulinism community and a reflection on another successful and impactful year. In total, we raised nearly $200,000, which will help us continue to advance research, provide essential support to patients and families, and raise awareness of congenital hyperinsulinism.
Visit our Sugar Soirée page to view photos and videos from the evening and read about our wonderful host, Cheri Preston.
The Open HI Genes Project: Providing Genetic Testing
Throughout the year, The Open Hyperinsulinism Genes Project – a partnership between the University of Exeter and CHI – has continued to provide people from all over the world with a medical diagnosis of HI with targeted genetic testing. Since 2018, we have now provided genetic testing free of charge to 967 individuals from 63 countries! Understanding an individual’s genetics is a crucial component to providing adequate care for HI; this allows local doctors to personalize care, and for these families to be equipped with knowledge to inform their family planning.
Awareness
Spreading Awareness in 25 Languages
CHI continued to expand our awareness materials by releasing our “What is Congenital Hyperinsulinism” posters in Romanian thanks to a wonderful HI mom and volunteer, Antoanela Androne. These posters can be used to raise awareness of HI and the signs and symptoms of hypoglycemia. We encourage you to print and share these with hospitals, physicians, friends, family, schools, or daycare. They are available for download as a two-page option, now in 25 languages!
HI-Stories
Our 2024 HI-Stories continued to highlight the personal journeys of our hyperinsulinism community. Jonah Shusterman, a teenager from the USA with hyperinsulinism (HI), sat down with CHI CEO Julie Raskin to share his story growing up with HI. Jonah told us all about his challenges navigating adolescence with hyperinsulinism and shared his joys and triumphs – including grilling and scuba diving!
In Daphne’s HI-Story, mother Faithelen spoke with CHI Communications Associate, Lily Barnett, and shared with us the family’s long and difficult journey from Cebu City, Philippines, to Philadelphia, PA, to receive treatment at the Children’s Hospital of Philadelphia (CHOP). Faithelen described the initial challenges in understanding Daphne’s HI and Beckwith-Wiedemann Syndrome diagnoses, as well as the ways in which the HI community came together virtually to help through CHI’s Family Support Forum on Facebook.
Representing CHI Far and Wide
CHI staff continued to represent the work we do throughout the year at various conferences and meetings. In February, Julie Raskin joined CRN members Senthil Senniappan and Klaus Mohnike at the ESPE Connect webinar: New Perspectives in Congenital Hyperinsulinism.
In this webinar, Julie highlighted the parent and family perspectives of HI and offered insightful answers to questions on medical access challenges. As part of ESPE’s webinar series, this event reached a new record for number of registrations!
In May, CHI Chief Research Officer Tai Pasquini, PhD attended the World Orphan Drug Congress to present a poster on the work of the CRN. This was an excellent opportunity to bring attention to the need for HI research by highlighting the CRN; the World Orphan Drug Congress is an important meeting bringing together rare disease advocacy organizations, biotechs, and pharmaceutical industry members to discuss the creation of rare disease drugs that often face funding challenges.
In July, Tai Pasquini traveled to Washington DC, where she attended the Pediatric Inclusion Roundtable: Effective Inclusion of Children Early in Clinical Trials. Prominent leaders from the FDA, NIH, industry, and patient advocacy shared their visions for how clinical trials should evolve to appropriately include younger participants and innovative approaches to decrease barriers to rare disease drug development in the neonatal and adolescent period. You can read more about the impact of access to clinical trials in our recent blog post about the meeting.
In October, Julie also represented CHI at the National Organization for Rare Disorders (NORD) Breakthrough Summit in Washington DC, focusing on “Equitable Access to Innovation.” This proved to be an excellent opportunity for Julie to share a scientific poster on our partnership with the University of Exeter – The Open Hyperinsulinism Genes Project described above.
You can read more about the experience on our blog!
Can personal stories drive change in newborn screening practices?
Julie Raskin was invited by the Story Collider, a podcast with a mission to reveal the vibrant role that science plays in all of our lives through the art of personal storytelling, to share her son’s birth story – one of the most personal and consequential stories of her life. Listen to Julie’s inspiring story on the Story Collider page or wherever you listen to your podcasts. You can also visit our blog post to read about Julie’s experience on the podcast.
Sharing the HI Sibling Experience
Meet Eugene and Danielle, two siblings with a bond as strong as steel and hearts full of courage. “Rare But Just Right- My Sweet Sibling and I,” a children’s book by genetic counselor Chloe Koeppen exploring the HI sibling experience – is now available for purchase!
You can learn more about this book and find a link to purchase at the HI Kids Corner! 25% of the proceeds will go to CHI. This book was made with insights from the CHI CRN patient advocates.
Stay tuned for our upcoming events!
While we celebrate this year’s achievements, our mission continues into 2025. Our 3rd CRN convening will be held in Lisbon, Portugal in February, bringing together experts involved in various aspects of HI care and research to discuss, prioritize, and plan future projects. Rare Disease Day will be on February 28th, an opportunity for our wonderful HI community to connect virtually. Our first Family Conference of 2025 will be held in Copenhagen, Denmark on May 8-10 – registration details will be coming soon!
Thank you for your continued support.
We are dedicated to improving the lives of those with hyperinsulinism (HI) and continue to advocate for better care, treatments, and quality of life.
All of our programs, conferences, and research are made possible thanks to your generous support. Your financial contributions play a vital role in driving breakthroughs to develop new treatments for HI, launching initiatives to improve care, and raising awareness for early diagnosis. If you’d like to help us continue making a difference, please visit our donation page to support the Sweetest Cause. Together, we are building a brighter future for all those affected by HI.
Wishing you a very happy new year!
