Dear Friends,
As 2019 draws to a close, we want to share with you how wonderful this year has been for CHI and the congenital hyperinsulinism (HI) community. There are so many reasons for hope and optimism. Thank you for all you do to support the work of CHI, 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.
We hope you enjoy our year in review!
RARE DISEASE DAY
CHI gathered at the New Jersey State Museum in Trenton for the 8th Rare Disease Day Event in Trenton, NJ. People living with rare diseases, their family members, rare disease advocates, legislators, members of the biotech, pharma, and other industry supporters all came together to share information, network, and learn from each other. The Keynote Speaker was Tammy Murphy, First Lady of New Jersey who presented the Governor’s 2019 Rare Disease Day Proclamation signed by Phil Murphy, her husband, and the Governor of New Jersey. We spent the afternoon at the State House meeting with legislators. Read more about details of the great day here.
HI RESEARCH GRANTS
This year CHI was able to fund two pilot HI Research Grants – read more below:
HIHA GRANT
Thanks to the generosity of the 2017 Sugar Soiree donors, CHI announced the award of $70,000.00 for a one-year pilot grant to Dr. Amanda Ackermann at the Children’s Hospital of Philadelphia in May. With this grant funding, Dr. Ackermann is hard at work on a “Novel Mouse Model to Investigate Pathophysiology of Hyperinsulinism/Hyperammonemia Syndrome (HIHA).” The understanding that will come from creating and studying this mouse model is needed to develop treatments for high blood ammonia levels, seizures, and neurodevelopmental differences caused by HIHA. You can read more here.
MDBR GRANT
The Penn Medicine Orphan Disease Center (ODC) hosted the 6th Annual Million Dollar Bike Ride on Saturday June 8, 2019, which raised $72,014 for rare disease research. Our Raring to Go for CHI Team participated to raise funds for hyperinsulinism research once again and we appreciate your participation! The fundraising dollars raised will be used for an innovative, pre-clinical or clinical study designed to improve the diagnosis, therapy, or quality of life for those affected by congenital hyperinsulinism. The grant recipient will be announced soon! One of our Raring to Go for CHI riders and HI Mom Julie Krcmaric wrote a great blog about her experience – you can read it here.
CHI Family Get Together at Haak Vineyards and Winery
We had a terrific Get Together at the Haak Winery in Sante Fe, Texas on June 23rd! We were so lucky HI dad and professional musician Hamilton Loomis performed for our entertainment.
CHOP SYMPOSIUM
Updates in Diagnosis and Management of Hyperinsulinism and Neonatal Hypoglycemia
On September 5-6, 2019, our Executive Director, Julie Raskin attended this two-day international symposium where exciting advances in the field of hyperinsulinism, including recent genetic breakthroughs and therapeutic innovations, were covered. The symposium faculty, leaders in the field of hyperinsulinism and hypoglycemia, presented 25 plenary lectures on all aspects of these disorders. CHI’s poster on the HI Global Registry was exhibited at the Symposium.
CHI FAMILY CONFERENCES
Philadelphia:
You can see photos from our time in Philadelphia and read some of the presentations
here.
Vienna:
And for photos and presentations from the Vienna conference click here.
Congenital Hyperinsulinism International (CHI) and Childrens Hospital of Philadelphia, PA hosted the 2019 Congenital Hyperinsulinism Family Conference in Philadelphia from September 7-9, 2019 and CHI partnered with Konngenitaler Hyperinsulinismus e.V. and Lobby 4 Kids on the 2019 CHI Family Conference in Vienna, Austria from September 20-22, 2019.
More than 270 people from 14 countries attended these conferences including children with HI, their siblings, parents, physicians, researchers, and members of the biotech industry. Participants learned all about HI through presentations from specialists, panel discussions, small group interactive sessions, speed dating with the specialists, the sharing of family stories, and informal time for networking and support. Presenters and participants came from 13 countries. Another 460+ people tuned in to our Facebook Live for the “Ask the Experts” sessions, expanding the reach of our conferences in a very significant way.
ESPE BOOTH
CHI was represented at the 2019 European Society of Pediatric Endocrinology (ESPE) Meeting from September 19-21. Along with our partner advocates from Germany and Austria, CHI raised awareness of HI and hypoglycemia and shared information about the HI Global Registry, and we had conversations with over 200 pediatric endocrinologists from all over the world. We learned of specific issues facing children with HI in many countries around the world, as well learning of the research interests of these professionals. We recruited specialists to work on HI materials in foreign languages.
HI GLOBAL REGISTRY
This fall, the HI Global Registry (HIGR), a project of CHI, celebrated its first birthday. HIGR tracks the experiences of those who live with HI, making it possible to quantify and characterize life with HI in a rigorous, scientific fashion to support new research leading to treatments and cures. In our first year of operation, people with HI from 43 countries and every inhabited continent joined HIGR.
2019 Sugar Soirée
The 2019 Sugar Soirée, which took place on the evening of November 2, was truly the “cure for the common gala.” It was a spectacular event bringing together many of CHI’s most beloved supporters in the most beautiful and fitting setting — The Mütter Museum of The College of Physicians of Philadelphia, America’s finest museum of medical history and many consider it the “birthplace of American Medicine.”” Tony Dokoupil, the co-host of CBS This Morning was our fantastic Master of Ceremonies. Tony told the CHI story in the most compelling terms, while honoring outstanding members of the CHI community.
The following awards were given:
- BE MY SUGAR UP-AND-COMING RESEARCHER AWARD – Amanda Ackermann, MD, PhD Pediatric Endocrinologist, The Children’s Hospital of Philadelphia
- BE MY SUGAR EXTRAORDINARY VOLUNTEER AWARD – Kristen Carlberg, Glen Ridge, NJ
- BE MY SUGAR COURAGE AWARD, Yildiz and Ulaş Baş, Adana, Turkey
The keynote speaker for the evening was Max Aronoff-Sher. Max shared the experience of being born with HI and living with it through his childhood and early teenage years. He is an incredibly effective and articulate speaker. A glass was raised for Dr. Charles A. Stanley, in recognition of his years working as one of the world’s foremost hyperinsulinism researchers and clinicians at the Children’s Hospital of Philadelphia. The superb Chairmen of the event were Turaya Bryant Kamau and Nicholas Kamau. Dr. and Mrs. Charles Stanley were the Honorary Chairmen.
Please click here to see more photos from the 2019 Sugar Soirée.
THE 1st SCHOOL OF CLINICAL PAEDIATRIC ENDOCRINOLOGY
Julie Raskin, presented on the impact of congenital hyperinsulinism on the family at the 1st School of Clinical Paediatric Endocrinology in Serbia on November 9, 2019. Fellows and young pediatric endocrinologists came from all over Eastern and Southern Europe, Mexico, Egypt and Kazakhstan for the three-day learning experience. Many of those attending have a special interest in hyperinsulinism.
EXETER GENETIC TESTING PROGRAM
We more than doubled the support for the genetic testing partnership project with the University of Exeter in the UK. 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 255 individuals from 39 countries to access genetic testing. Getting the right diagnosis and treatment can help avoid brain damage and other severe complication.
WORLD HEALTH ORGANIZATION LIST OF ESSENTIAL MEDICINES
Access to diazoxide, the only approved medication for HI, is a problem in many countries. CHI partnered with GPED, Global Pediatric Endocrinology and Diabetes – to submit a successful application to add diazoxide to the World Health Organization List of Essential Medications. This is a major step forward in our quest to make diazoxide available to all who need it. We will now continue to work country by country to continue to increase access for patients throughout the world.
WHAT IS HYPERINSULINISM POSTER SETS
CHI posters, “What is Hyperinsulinism” and the “Signs and Symptoms of Hypoglycemia” are now available in 19 languages – the most recent addition is Swedish! The posters are a fantastic way to raise awareness of HI all over the world. We’re always looking to expand the collection, so please drop us a line if you know someone with the expertise to translate the posters into more languages. CHI Posters
We cherish each and every member of our community: HI families and our sweetest volunteers and most generous donors.
Wishing you all very happy holidays and a wonderful new year!
We’re gearing up and ready for an exciting 2020!
