Resources for Families

Information Sheets

We are developing information sheets for families which cover a full range of topics from inheritance of variants to specific genetic forms of congenital hyperinsulinism. These information sheets are developed in partnership with patient advocacy organisations, with feedback from a Royal Literary Fund Fellow based at the Royal Devon University Healthcare Trust.

We welcome feedback on these forms and hope these resources will be helpful to families and clinicians.

Inheritance

Focal Hyperinsulinism Explained

Genetic Subforms

Calcium Channel (CACNA1D) HI Explained

SLC16A1-HI Explained

The Exeter Centre for Hyperinsulinism Genetics YouTube Channel

Our YouTube channel shares videos from our team, including conference talks, research updates, and easy-to-understand educational content. Our aim is to increase awareness and understanding of congenital hyperinsulinism, share the latest discoveries in genetics, and support families, patients, and healthcare professionals around the world. Access it here

The Congenital Hyperinsulinism Wikipedia Page

In 2022 a committee of experts which included a geneticist for the HIgenes team produced a consensus update for the congenital hyperinsulinism Wikipedia page. This project was made possible by working with a skilled Wikipedian in Residence at the National Institute of Health Research (NIHR) and the Congenital Hyperinsulinism International, Collaborative Research Network. The page provides a comprehensive overview of the diagnosis and management of congenital hyperinsulinism.

Click to access Wikipedia page

Family Support and Advocacy Organisations

Links to some organisations that provide support, education, and advocacy for individuals and families living with congenital hyperinsulinism.

Congenital Hyperinsulinism International

Global organisation

Access their website

The Children's Hyperinsulinism Charity

UK-based organisation

Access their website

Sugar, by Raissa Hacohen

A tale of mother and medicine. Available to buy on Amazon.com

‘Raissa shares her inner life with prose that is both poetic and unpretentious. Her memoir is a fantastic read and is a testament to the power of a mother’s love’ – Julie Raskin, Executive Director, CHI

InSequence Podcast: Chasing a Cure: Searching for answers to Congenital Hyperinsulinism leveraging genomics

In this podcast you hear insights from Julie Raskin, Congenital Hyperinsulinism International (CHI), New Jersey, who is mom to Ben who has congenital hyperinsulinism; Sheila Bose parent to 3 children born with congenital hyperinsulinism; Dr Sarah Flanagan, University of Exeter Medical School; Dr. Diva De León-Crutchlow, Congenital Hyperinsulinism Center at Children’s Hospital of Philadelphia; and Dr. Paul Thornton, Cook Children’s Medical Center, Texas.

Listen Here