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Dear Friends,
We are incredibly grateful that this year brought some of our wonderful congenital hyperinsulinism (HI) community back together, in person, after two years apart and that we continue to connect virtually with our community across the globe.
Whether you originally connected with us yesterday or years ago, 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.
2022 has been one of the busiest and most productive years on record for CHI. Let’s look back!
We hope you enjoy our year in review!
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| RARE DISEASE DAY |
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Leading up to Rare Disease day, CHI asked "what makes you sweet?". Community members shared photos and messages with us that we used to spotlight their loved ones throughout the month of February, like Shaquille and Fisher.
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CHI celebrated Rare Disease Day virtually on Sunday, February 27. We joined with friends from around the world to celebrate the HI community and enjoy an entertaining origami lesson from Master Origamist Jeremy Shafer.
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| CHI COLLABORATIVE RESEARCH NETWORK |
Over the past two years, the CHI Collaborative Research Network (CRN), comprised of the leading global experts and patient advocates, has virtually worked in small groups on a prioritized research agenda to accelerate research and cures for HI. In late May 2022, CHI hosted the first in-person CRN Convening in Lisbon, Portugal, where 50 CRN members from 15 countries gathered for three days of collaboration, discussion, and brainstorming. The most critical gaps in knowledge, research, resources, and infrastructure were identified and discussed through presentations, large and small group meetings, and individual and group conversations. Work began on concrete project development to begin to close the gaps identified during the convening.
For more information about the CHI CRN, please visit this link.
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| RARE AS ONE NETWORK |
| CHI is proud to be a member of the Rare As One (RAO) Project, funded and organized by the Chan Zuckerberg Initiative. As members, we have continued to learn and grow through the resources our membership provided. In June, we had the opportunity to gather with other members of the RAO Network for a few incredible days of discussion, collaboration, and workshops at the inaugural RAO Conference. |
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| CHI Executive Director Julie Raskin, who presented on the CHI CRN during the conference, Associate Director Jennifer Schmitt, Research and Policy Associate Mahi Mesfin, and Dr. Paul Thornton, the CHI CRN Lead Clinician, attended to represent CHI. |
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| MILLION DOLLAR BIKE RIDE |
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Team CHIbra participated in the Million Dollar Bike Ride for the 9th year in June. After two years apart due to the pandemic, it was fantastic to gather in Philadelphia, PA, with our supporters and team members again. We also had a few virtual riders, including Executive Director Julie Raskin, support us from across the United States.
We announced our 2021 Grant Winner was Elizabeth Rosenfeld, MD, Children’s Hospital of Philadelphia, earlier in the year. Her research topic: “Natural History of the Hyperinsulinism Hyperammonemia Syndrome – A Multi-center Observational Study Incorporating Patient-centered Data through the HI Global Registry.”
We will be announcing the 2022 Grant recipient in early 2023 – stay tuned.You can see all of the past MDBR grant recipients here.
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| EUROPEAN SOCIETY OF PEDIATRIC ENDOCRINOLOGISTS (ESPE) |
| In September, CHI staff attended ESPE’s 60th annual meeting in Rome, Italy. 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. Mahlet Mesfin, CHI’s Research and Policy Associate, presented CHI’s poster entitled "Utilizing PES guidelines to evaluate the presence of known risk factors in HI Global Registry participants" during the conference. |
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| CHI FAMILY CONFERENCE, ROME, ITALY |
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| Later that week, in partnership with Italian patient advocacy organization Vivere con CHI, we held the 2022 Congenital Hyperinsulinism Family Conference in Rome, Italy. The conference featured world-renowned physicians, researchers, specialists, parents, patient advocacy leaders, patient speakers and attendees from 17 countries. Additionally, the members of Vivere Con CHI presented on the topic of living with HI in Italy. We look forward to our 2023 Family Conferences and hope you can join us for one either in Philadelphia, PA in April or The Hague, Netherlands in September. |
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| THE HI GLOBAL REGISTRY |
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HIGR is a patient-reported research project that describes the experience of living with HI. This fall, we launched an exciting new project, Maximizing the Utilization of the HI Global Registry (MaxHIGR). This project is an international collaboration between leading HI centers and CHI that will add physician-reported data to complement patient-reported responses in HIGR. MaxHIGR will help to grow and expand the research possibilities unlocked through HIGR while enhancing the value and impact of HIGR. For more information on the project and to learn how you can join, click here!
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CHI and the HI Global Registry (HIGR) team invite you to read the 2022 HIGR Annual Report! The report provides insights into what it is like to have HI reported by the people who live with it. HIGR is the first global patient-powered congenital hyperinsulinism patient registry and consists of a series of thirteen surveys made up of questions related to a patient’s HI experience over their lifetime. The report builds on previous annual reports that have been shared since 2019. Learn more about the HI Global Registry.
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| SUGAR SOIRÉE |
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The 2022 Sugar Soirée occurred on October 22, 2022, at the Montclair Art Museum. It was wonderful to gather in person again with our community and celebrate a fantastic year. Thank you to Dana Jacobson, co-host of CBS Saturday Morning, for being our host for the evening.
We were thrilled that we could honor the following international HI community members during the Soirée:
- The Be My Sugar Extraordinary Fundraising Award was given to Justyna and Jeff Montemurro of the United States
- The Be My Sugar Extraordinary Volunteer Award was given to Sandra Melo of Portugal
- Be My Sugar Inaugural Center of Excellence Award honored Sir Al Ansley-Green of the United Kingdom
Thank you to Dr. and Mrs. N Scott Adzick for being our Honorary Chairmen, Benjamin Raskin-Gross for being our guest speaker, and Janna Pell and Eric Vanderzee for performing as our musical guests.
We are so grateful to Turaya Bryant-Kamau, HI mom and CHI board member, for planning and coordinating the program. Additional thanks are extended to our benefit committee and our junior committee, who all went above and beyond to support our event again this year. Please click here to read more and see photos from the event.
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| CHI FAMILY MEET-UP |
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Our first-ever CHI Family Meet-Up took place on Saturday, November 5, at Cayton’s Children’s Museum in Santa Monica, California. At the meet-up, HI families and people with HI joined us to play, visit, connect and learn more about the HI Global Registry (HIGR). This was CHI’s first regional meet-up – and we hope to have more in the future in different locations.
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| DECEMBER RESEARCH DAYS |
| Closing out our calendar for the year, our Congenital Hyperinsulinism December Research Days opened at the beginning of December! This is a month-long event, closing on January 2, where we celebrate and highlight the latest in HI resources and research. HI experts from around the world submitted presentations, booths, and posters to be viewed at your convenience. During the first week of Research Days, representatives from different booths hosted office hours to hold one-on-one conversations with attendees. We are thankful that we can accommodate our international community with a flexible, virtual event that makes HI research accessible to all, free of charge, thanks to our sponsors. You can still register to view the on demand content through January 2 with this link. |
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| PUBLICATIONS |
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In 2022, for the first time, the voices of the HI patient community were published in peer-reviewed medical journals. A total of three articles were published that all contain data from the HI Global Registry. You can read the articles by clicking on the titles below. |
We look forward to continuing to contribute to HI research in 2023.
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| 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. Those suspected of HI from anywhere in the world, who otherwise would not be able to afford it, received genetic testing for HI to determine the type of treatment each baby or child with HI needs. Joining forces with Exeter has enabled 685 individuals from 59 countries on five continents to access genetic testing. Getting the proper diagnosis and treatment can help avoid brain damage and other severe complications from HI.
Some of the people who received genetic testing through this program were included in the important, groundbreaking genetic discovery by Dr. Sarah Flanagan and her team on a newly discovered cause of HI published this year. We are also pleased to mention that the Open Hyperinsulinism Genes Project was shortlisted for a Knowledge Exchange Award this fall. Watch this video to learn more about the project.
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| 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 continued to partner with Cook Children’s Medical Center and the Children’s Hospital of Philadelphia, both Centers of Excellence, to provide funds for HI families and patients who otherwise would have difficulty getting care for HI. This month, CHI made a first-time emergency grant to the Sri Lankan College of Pediatricians. The country has faced tremendous economic hardship and diazoxide would otherwise not be available to their patients.
The CHI Family Forum on Facebook is a free resource that allows families worldwide to connect and collaborate. It is full of different information and resources crowdsourced directly from the HI community and creates a critical safe communication space for our community. There are 2,118 members from all over 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.
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| HI-STORIES |
HI-Stories help us continue raising awareness of what it is like to live with HI and build our community. CHI deeply appreciates the people who volunteered to share their experiences over the last year. We are honored to be able to share each story, like the Wright family’s magical experience with Zebras in Swaziland, from families across the globe. See all of our HI-Stories on our website using this link.
If you have any interest sharing your or your child’s story, email klewis@congenitalhi.org to get started.
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| WHAT IS HYPERINSULINISM POSTER SETS |
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CHI posters, “What is Hyperinsulinism” and the “Signs and Symptoms of Hypoglycemia” are now available in 23 languages – the most recent additions are Danish and Dutch! The posters are a fantastic way to raise awareness of HI worldwide. You can find them all here.
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We’re always looking to expand the collection, so please email us if you know someone with the expertise to translate the posters into a new language.
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| 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 Bio 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. |
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Thank you to the CHI Board of Directors for their continuous dedication to the CHI cause and hard work this year.
- Sheila Bose, President
- Julie Sheldon, Vice President
- Mason Smith, Treasurer
- Turaya Bryant Kamau, 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 2022.
Wishing you all very happy holidays and a wonderful new year.
We’re gearing up and ready for an exciting 2023!
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