Dear Friends,
We are incredibly grateful for another year of the global congenital hyperinsulinism (HI) community staying strong together to improve the lives of people living with the condition.
Whether you originally connected with us many years ago or just yesterday, we appreciate all you do to support the work of Congenital Hyperinsulinism International (CHI). You help us continue to work on advancing research for better treatments and cures, raising awareness of HI to prevent brain damage and death, and being there for HI families every step of the way.
2023 has been a very busy and productive year.
We hope you enjoy our Year In Review!
RARE DISEASE DAY
Rare Disease Day (RDD) was February 28 this year – a day dedicated to raising awareness of rare diseases and the people who live with them, while working to improve access to treatment. To raise awareness, we encouraged our CHI community to answer the question: What do you Dare to Dream? Check out some of their answers highlighted in our #RareAndDareToDream campaign.
The CHI staff celebrated our HI community with a virtual Rare Disease Day gathering via Zoom on February 28. We had attendees from 13 countries join us to share the dreams, triumphs, and challenges of having or caring for someone with HI. We also received a lot of fantastic photos of community members wearing our Rare Disease Day t-shirts with pride!
CHI FAMILY CONFERENCE – PHILADELPHIA, PA, USA
Our first 2023 Congenital Hyperinsulinism Family Conference took place in Philadelphia, PA, April 14-16. 227 people attended from eight countries. Thank you to our partners, the Children’s Hospital of Philadelphia Hyperinsulinism Center team, for working with us to make the weekend possible. You can view photos from the conference here.
Over two days, we learned about many important HI-related topics from leading HI experts from the CHOP HI Center of Excellence as well as other leading experts from around the world. Children and adults living with HI and HI caregivers were also featured among the speakers. The children had their own program of fun and entertainment. You can see the full list of topics, speakers and sponsors here. Many of the presentations are available here.
MILLION DOLLAR BIKE RIDE
Team CHIbra participated in the Million Dollar Bike Ride (MDBR) for the 10th year in June. It was fantastic to gather in Philadelphia, PA, with our supporters and team members to ride for hyperinsulinism research once again. The supporters of this ride fund a competitive pilot grant for pre-clinical or clinical HI research. Mark your calendars to join us for the 11th MDBR on June 8, 2024 – details coming soon. Remember, if you cannot join us in person in Philly, you can ride virtually from anywhere!
Our 2022 Grant Winner, Professor Sarah Flanagan, PhD, University of Exeter Medical School, was announced earlier in the year. Her research topic: Implementing detection of low-level mosaic variants from blood samples in hyperinsulinism to improve diagnosis . We will be announcing the 2023 Grant recipient in early 2024 – you can see all of the past MDBR grant recipients here.
CHI FAMILY MEETING DAYS – BRISBANE, AUSTRALIA
For the first time, we were able to host an event in Australia! The 2023 Congenital Hyperinsulinism Family Meeting Day took place in Brisbane August 4-6 with 76 registrants from all around Australia. Thank you to Dr. Louise Conwell of Queensland Children’s Hospital and CHI Board of Trustees member Erin Greaves for planning the event with us, and to Rezolute for sponsoring the event.
The HI families were ecstatic to be able to share and support each other. The children had a great time playing while parents and adults with HI learned about aspects of the condition from the expert medical staff at Queensland Children’s Hospital. HI families also learned about global advocacy initiatives and had an opportunity to have important discussions and to learn about clinical research. Presentations covered topics like surgery, diagnosis, clinical research, and more. You can see photos, read more about the event and the presentations here.
INTERNATIONAL GUIDELINES FOR THE DIAGNOSIS AND TREATMENT OF HYPERINSULINISM
The first international hyperinsulinism guidelines have been published and are now available to the public! These guidelines are a collaboration of work by HI experts around the world, including many who are a part of the CHI Collaborative Research Network (CRN) and Tai Pasquini, CHI’s Chief Research Officer. Patient and caregiver representatives of the CHI CRN provided the patient perspective. These guidelines are available free of charge and can be downloaded and shared with your care team. You can find the full guidelines here.
The new recommendations include:
- Diagnosis
- Medical Management
- Surgical Management
- Discharge Planning
- Longterm Management of Patients with Hyperinsulinism
- And more!
EUROPEAN SOCIETY OF PEDIATRIC ENDOCRINOLOGISTS (ESPE)
In September, CHI staff attended ESPE’s 61st annual meeting in The Hague, The Netherlands. Our booth highlighted different projects and partnerships, from the HI Global Registry (HIGR) to our Open Hyperinsulinism Genes Project with the University of Exeter. We greatly valued the opportunity to connect with researchers, physicians, geneticists, and other HI experts from around the world.
Our poster, Developing a Collaborative Research Network to Accelerate the Understanding and Treatment of the Rare Disease Congenital Hyperinsulinism was presented during the conference.
CHI FAMILY CONFERENCE, THE HAGUE, THE NETHERLANDS
We were thrilled to host our 31st international Congenital Hyperinsulinism Family Conference in The Hague just after ESPE from September 22-24. The conference featured world-renowned physicians, researchers, specialists, parents, patient advocacy leaders, patient speakers and 128 attendees from 19 countries. We partnered with local HI Families from the Netherlands teaming up with local parent Maureen van Noojien and Kongenitaler Hyperinsulinismus e.V. on this truly international event. You can see a full list of presenters, sponsors, and all of the presentations on our website.
THE HI GLOBAL REGISTRY
The HI Global Registry (HIGR), the only global patient-powered hyperinsulinism registry, has reached its 5th birthday this year. In just five years, HIGR has made great contributions to HI research. By collecting important fields of information from the people who live with or have lived with HI, HIGR is filling gaps in knowledge to improve HI diagnosis, management, and long-term outcomes. Several publications in peer-reviewed medical journals have included research from HIGR. Links to these publications can be found on the CHI website. More research publications are being planned for 2024. Additionally, CHI publishes an annual report covering some of the most important research from HIGR. The fifth annual report will be available in January of 2024.
We have recently unveiled an improved platform for users. HIGR now allows multiple contributors, will soon be available in seven languages, and will include Continuous Glucose Monitor and glucometer readings! Learn more about how HIGR can improve the lives of those with hyperinsulinism here.
SUGAR SOIRÉE
The 2023 Sugar Soirée took place on November 4th in the evening at the Montclair Art Museum in Montclair, NJ. We were thrilled to have gathered with the CHI community to celebrate a fantastic year and raised funds to improve the lives of children and adults born with congenital hyperinsulinism and their families.
We honored the following HI community members during the Soirée:
- The Be My Sugar Extraordinary Fundraiser Award was given to Leo Folsom
- The Inaugural Be My Sugar Extraordinary Nursing Award was given to Heather McKnight of the Children’s Hospital of Philadelphia
- The Be My Sugar Researcher Award was given to Professor Sarah Flanagan of the University of Exeter, in the United Kingdom
Thank you to our fabulous host for the evening Cheri Preston, an Edward R. Murrow and Gracie Allen award-winning broadcaster. We also want to thank CHI Board of Trustees Vice President and HI Parent Julie Sheldon for being the sweetest Chairperson of the event. And a big thank you to extremely talented Janna Pell and Eric Vanderzee for joining us again as our musical guests.
Additional thanks are extended to our benefit committee, our junior committee, and our sponsors, who all went above and beyond to support our event again this year. You can view photos from the event here.
CHI COLLABORATIVE RESEARCH NETWORK (CRN)
In December, CHI hosted the second in-person Collaborative Research Network (CRN) Convening in Lisbon, Portugal.
We gathered an amazing group of 44 international clinician, researcher, and patient advocate experts from across the globe to continue to collaborate to solve the most difficult diagnosis, management, and advocacy issues in congenital hyperinsulinism.
Since its inception in 2020, the CRN has met both virtually and in-person to build on the work and momentum of the research done by many experts around the world and our own patient-powered research through the HI Global Registry. The CHI CRN will continue to build on existing projects by forming new partnerships to increase collaboration across institutions and organizations.
For more information about the CHI CRN, please use this link.
OPEN HYPERINSULINISM GENES PROJECT
We continued our support for the genetic testing partnership with the University of Exeter in the UK through the Open Hyperinsulinism Genes Project, run by Prof. Sarah Flanagan and her team. Those with a medical diagnosis of HI from anywhere in the world, who otherwise would not be able to afford it, received targeted genetic testing for HI, free of charge. Targeted genetic testing helps determine the type of treatment each baby or child with HI needs. Joining forces with Exeter has enabled 867 individuals from 61 countries on five continents to access genetic testing. Getting the proper diagnosis and treatment is extremely important for the very best health and developmental outcomes.
Watch this video to learn more about the project.
ACCESS AND SUPPORT
Helping HI patients around the globe gain access to treatment and medicine for HI continues to be an essential part of CHI’s work. We continue to partner with Cook Children’s Medical Center and the Children’s Hospital of Philadelphia, and Great Ormond Street Hospital, all Centers of Excellence, to provide funds for HI families while the children are in the hospitals for care. This month, we were also able to give an emergency grant to the Sri Lankan College of Paediatricians. The country has faced tremendous economic hardship and diazoxide would otherwise not be available to their patients. We also partnered with Direct Relief and WEP Clinical to provide diazoxide to children with HI in additional countries.
The CHI Family Forum on Facebook is a free resource that allows families worldwide to connect and share experiences. It is professionally moderated by an HI parent who is also a psychologist. There are 2,303 members from 85 countries throughout the world
At CHI, we believe that everyone deserves quality care for HI regardless of their geographic location or finances and hope to continue to grow our access programs in the upcoming year.
HI-STORIES
Sharing HI-Stories help us continue raising awareness of what living with HI is like and building our community. CHI profoundly appreciates the people who volunteer to share their experiences with us each year. We are honored to be able to share each story, like Selyn’s, who was born with HI in Romania and lives in the United Kingdom. Watch Selyn’s HI-story on our YouTube page!
You can see all of our HI-Stories on our website.
If you have any interest sharing your or your child’s story, email Lily Barnett at lbarnett@congenitalhi.org to get started.
WHAT IS HYPERINSULINISM POSTER SETS
CHI posters, “What is Hyperinsulinism” and the “Signs and Symptoms of Hypoglycemia” are now available in 24 languages – the most recent addition is Croatian. The posters are a fantastic way to raise awareness of HI worldwide. You can find them all here.
We’re always looking to expand the collection, so please email lbarnett@congenitalhi.org if you know someone with the expertise to translate the posters into a new language.
CLINICAL TRIAL SUPPORT
One of the most exciting and promising aspects of CHI’s work is our collaboration with biotechnology scientists developing potential new treatments for HI. Throughout the year, CHI assists these scientists in understanding the patient and caregiver experience so that they can develop the best possible medical treatments for HI. This year, we have had the opportunity to work with Crinetics, Eiger Biopharmaceuticals, Hanmi, Rezolute and Zealand Pharma. The patient and caregiver’s generosity – their sharing of their experiences of living with HI – makes this work possible. These activities occur throughout the year.
CHI STAFF
CHI’s ability to sustain and grow its lifesaving programs is made possible by the CHI Board of Directors and staff. Late this summer, we added three new staff members. With a doctorate in Biology and experience in patient registries, Lauren Lopez joined CHI as our HI Global Registry Director. Diane Esty, an experienced nonprofit professional, joined CHI as our Development Director. A bright and ambitious recent college graduate, Lily Barnett joined CHI as our Communications Associate. These new members of the CHI staff joined to round out the very dedicated team of veteran members.
WIKIPEDIA PAGE ON HYPERINSULINISM
In 2023, the HI community has seen tremendous growth in our efforts to inform the public about hyperinsulinism. This summer, members of the CHI staff met with CRN members alongside a Wikipedian to create a thorough article about hyperinsulinism that you can find on Wikipedia here! Wikipedia is often where concerned parents and family members turn when grappling with understanding their child’s diagnosis, and our success in crafting this article equipped with scientific definitions and explanations, as well as parent resources, will transform the research process for many.
CENTERS OF EXCELLENCE
The Congenital Hyperinsulinism International (CHI) Hyperinsulinism Centers of Excellence (COE) Program designates centers for providing the highest quality of care for congenital hyperinsulinism (HI) patients and their families around the world.
The CHI COEs are:
- Congenital Hyperinsulinism Center at the Children’s Hospital of Philadelphia, PA, United States
- The Hyperinsulinism Center at Cook Children’s Medical Center in Fort Worth, TX, United States
- Great Ormond Street Hospital Congenital Hyperinsulinism Service in London, in the United Kingdom
- Charite-Universitatsmedizin Berlin and the University Children’s Hospital Duesseldorf partnership in Germany
- Collaborative Alliance on Congenital Hyperinsulinism headquartered in Magdeburg, Germany
- Northern Congenital Hyperinsulinism Service in Manchester and Liverpool, in the United Kingdom
You can read more about the COE program here.
Thank you to the CHI Board of Directors for their continuous dedication to the CHI cause and hard work this year.
- Laura Sullivan, President
- Julie Sheldon, Vice President
- Mason Smith, Treasurer
- Sheila Bose, Secretary
- Erin Greaves
- Pam Williams
We cherish each and every member of our community: HI families and our sweetest volunteers and most generous donors. Thank you for all of your support in 2023.
Wishing you all very happy holidays and a wonderful new year. We’re gearing up and ready for an exciting 2024!
