Endocrine Abstracts

JOINT3151

Background: Hyperinsulinism (HI) is a rare, life-threatening condition affecting 1 in 28, 000 babies each year. HI results in the over secretion of insulin from pancreatic beta cells, leading to persistent severe hypoglycemia. Hypoglycemia can lead to seizures, developmental delay, visual impairment and death. Limited treatment options exist. Congenital Hyperinsulinism International (CHI) is an international non-profit organization committed to improving the lives of children and families with HI. CHI’s Collaborative Research Network (CRN) consists of 62 members and advisors from 17 countries, rare disease advocates, health care providers and researchers united around the common goal of improving the lives of people impacted by HI. Through research and advocacy, the CRN is focused on the attainment of timely and accurate diagnoses, supporting new evidence-based treatments and cures, standardizing clinical guidelines, and facilitating improved access to care.

Objective: The need for an advocacy statement arose from discussions with > 600 parents, young people, and health care providers from around the world. Discussions and interactions with families uncovered basic aspects of care not generally available in many regions and countries. Through the CHI CRN an advocacy working group was formed with the mission of creating a universal advocacy statement for persons affected by HI.

Methods: Through several meetings, both in-person and virtually, CHI CRN members representing 5 countries met to produce an advocacy statement that could be utilized to assure optimal outcomes for people impacted by HI. The statement was approved by the entire CHI CRN.

Results: The finalized advocacy statement will be utilized to convey the medical and developmental needs of children with HI, urgency of timely diagnosis, access to medications and blood glucose testing supplies. There is also a focus on access to radiologic and surgical expertise, which in some cases can lead to a cure. Consultation with one of the world’s eight CHI Centers of Excellence (COEs) is emphasized. The need for transitional care for young adults is highlighted. The CHI CRN Advocacy Statement and List of Essential Medical Care, Medication, Supplies and Services is available on the CHI website to be used by Healthcare advocates, embassies, insurers, family members and health care providers as they navigate and advocate for people living with hyperinsulinism. This approach to advocacy can be a template for others working with rare diseases.