Congenital Hyperinsulinism International

CONGENITAL HYPERINSULINISM INTERNATIONAL'S MISSION IS TO IMPROVE THE LIVES OF PEOPLE WITH CONGENITAL HYPERINSULINISM,A LIFE-THREATENING GENETIC DISORDER THAT CAUSES SEVERE HYPOGLYCEMIA THAT CAN LEAD TO SEIZURES,BRAIN DAMAGE,OR DEATH, IF UNTREATED.

CHI SUPPORTS RESEARCH AND DEVELOPMENT TO BETTER UNDERSTAND, TREAT, MANAGE AND HOPEFULLY CURE HI. CHI SHARES THE PATIENT PERSPECTIVE WITH RESEARCHERS AND MEMBERS OF THE BIOPHARMACEUTICAL INDUSTRY TO ACCELERATE THE DEVELOPMENT OF PATIENT-CENTERED TREATMENTS. CHI IS PART OF THE MILLION DOLLAR BIKE RIDE GRANT PROGRAM WITH THE UNIVERSITY OF PENNSYLVANIA'S CENTER FOR ORPHAN DISEASES; A PILOT RESEARCH GRANT IS OFFERED EACH YEAR FOR AN INNOVATIVE, PRECLINICAL OR CLINICAL STUDY WITH THE POTENTIAL TO LEAD TO A BETTER HI TREATMENT, A CURE FOR HI, OR IMPROVEMENT IN THE QUALITY OF LIFE FOR THOSE AFFECTED BY HI. CHI ALSO ADMINISTERS A ONE-TIME HYPERINSULINISM HYPERAMMONEMIA(HIHA) PILOT GRANT FOR AN INNOVATIVE, PRECLINICAL STUDY THAT HAS THE POTENTIAL TO LEAD TO A BETTER HIHA TREATMENT, A CURE FOR HIHA, OR IMPROVED QUALITY OF LIFE TO THOSE AFFECTED BY HIHA.CHI CONDUCTS THE HI GLOBAL REGISTRY (HIGR) RESEARCH PROJECT. HIGR PROVIDES A CONVENIENT ONLINE PLATFORM FOR THE HI PATIENT COMMUNITY TO SHARE THEIR EXPERIENCES OF LIVING WITH HI. HIGR DATA IS STORED ON THE SECURE CLOUD-BASSD IAMRARE PLATFORM AND HOSTED BY THE NATIONAL ORGANIZATION FOR RARE DISORDERS (NORD). BY PARTICIPATING IN HIGR, THE PATIENT COMMUNITY HELPS THEMSELVES AND RESEARCHERS BETTER UNDERSTAND HI TO ADVANCE BETTER TREATMENTS, A POTENTIAL CURE, AND MORE TIMELY AND ACCURATE DIAGNOSES.IN 2021, CHI CONTINUED DEVELOPING THE COLLABORATIVE RESEARCH NETWORK, AFTER RECEIVING A RARE AS ONE GRANT FROM THE CHAN ZUCKERBERG INITIATIVE TO CREATE A PRIORITIZED RESEARCH AGENDA FOR THE DEVELOPMENT OF FASTER AND MORE ACCURATE DIAGNOSES, NEW EVIDENCE-BASED TREATMENTS AND CURES, STANDARDIZED CLINICAL GUIDELINES, AND INCREASED AND IMPROVED ACCESS TO TREATMENT, MEDICATION, DEVICES, AND SUPPLIES. THIS AMBITIOUS PROJECT INCLUDES SEVEN WORKING GROUPS FOCUSED ON DIFFERENT ASPECTS OF THE AGENDA, COMPRISED OF 57 LEADING RESEARCHERS, CLINICIANS, AND PATIENT ADVOCATES FROM 16 COUNTRIES. IN 2021, CHI ANNOUNCED THE FIRST RECIPIENTS OF THE CHI CENTERS OF EXCELLENCE DESIGNATION. SIX CENTERS WERE GRANTED THE DESIGNATION AND RECOGNIZED AS MULTI-DISCIPLINARY CLINCICAL AND RESEARCH CENTERS IN THE FIELD OF CONGENITAL HYPERINSULINISM. THIS PROJECT WAS MADE POSSIBLE BY A GRANT FROM GLOBAL GENE RECEIVED IN 2020. THE GOALS OF THIS PROGRAM ARE TO MAKE IT EASIER FOR PATIENT FAMILIES TO ACCESS CARE AT LEADING HOSPITALS, ENCOURAGE PATIENT-FOCUSED STANDARDS AT THE LEADING HOSPITALS, FOSTER A PIPELINE OF EXPERT CLINICIANS AND RESEARCHERS, AND TO ENCOURAGE COLLABORATION AMONG RESEARCHERS, CLINICIANS, AND PATIENT LEADERS AND ADVOCATES.

CHI ADVOCATES ON BEHALF OF HI FAMILIES ALL OVER THE WORLD FOR ACCESS TO QUALITY TREATMENT, MEDICATION, AND SUPPLIES. CHI PROVIDES OPPORTUNITIES FOR AFFECTED FAMILIES TO EMOTIONALLY SUPPORT EACH OTHER BECAUSE THE HOME CARE MEDICAL MANAGEMENT OF HI IS OFTEN COMPLICATED AND DIFFICULT. CHI OFFERS ONLINE FORUMS, AND CHI STAFF AND VOLUNTEERS ARE AVAILABLE BY TELEPHONE, ONLINE AND IN-PERSON FOR SUPPORT. CHI ESTABLISHES FUNDS AT HOSPITALS TO SUPPORT FAMILIES FROM OUT OF TOWN WHO MUST TRAVEL TO CENTERS OF EXCELLENCE FOR PATIENT CARE. CHI COVERS THE COST OF GENETIC TESTING FOR HI FOR ANY PATIENT SUSPECTED OF HAVING THE DISEASE WHO OTHERWISE CANNOT AFFORD GENETIC TESTING. THE TESTING IS CONDUCTED BY A LEADING GENETICS LAB AT THE UNIVERSITY OF EXETER IN THE UK.

CHI INCREASES AWARENESS OF HI IN ORDER TO IMPROVE TIMELY DIAGNOSIS AMONG THE PUBLIC AND MEDICAL PERSONNEL WHO HAVE A DIRECT OPPORTUNITY TO DETECT IT, TO DECREASE ADVERSE NEUROLOGICAL OUTCOMES AND DEATH. TO THAT END, CHI SPREADS AWARENESS OF HI WITH ONGOING CAMPAIGNS ON SOCIAL MEDIA, THE CHI WEBSITE AND BLOG, CHI POSTERS IN 21 LANGUAGES, CHI BROCHURES, THROUGH DIRECT MAIL AND EMAIL, AND AT MEETINGS AND CONFERENCES. CHI PROVIDES EDUCATIONAL RESOURCES AND HOLDS ONFERENCES AND MEETINGS ON HI FOR PATIENTS, FAMILIES, MEDICAL PROFESSIONALS, SCHOOL PERSONNEL,AND RARE DISEASE INDUSTRY MEMBERS. IN 2021, CHI HELD ITS FIRST RESEARCH CONFERENCE WITH PRESENTATIONS FROM ACADEMIC RESEARCHERS, MEMBERS OF ADVOCACY ORGANIZATIONS, AND BIOTECHNOLOGY COMPANIES.