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Julie Raskin, Executive Director of Congenital Hyperinsulinism International, with her family

Charitable organisation funds vital global testing for babies with rare disease

A charitable organisation is providing vital funding for people with a rare condition across the world to have genetic screening at the University of Exeter.

The US-based non-profit organisation Congenital Hyperinsulinism International will fund genetic testing for babies around the world from families who could not otherwise afford the testing. Getting the right diagnosis and treatment can help avoid brain damage and other severe complications.

Congenital Hyperinsulinism is a condition in which babies are born secreting too much insulin. Made in the pancreas, insulin is the hormone that regulates blood sugar levels. Having too much means babies can be born very large, and suffer from problems associated with low blood sugar. If the condition is not treated appropriately, the brain can be starved of vital fuels, which can cause learning difficulties, blindness or even death.

The world-leading hyperinsulinism research team at the University of Exeter Medical School, who work closely with the NHS genetics laboratory at the Royal Devon and Exeter Hospital, has received samples from 86 countries and provided genetic testing for more than 3,000 families affected by this condition who could not afford to pay for the test.

Dr Sarah Flanagan, of the University of Exeter Medical School, who leads the research programme, said: “This genetic testing is absolutely vital for families. For many children with this condition the only way to prevent brain damage is to undertake pancreatic surgery. The genetic result can help determine whether all or just part of the organ should be removed, which can mean better outcomes for the children. I’m delighted that Congenital Hyperinsulinism International is providing funding for this crucial work for people worldwide who could not otherwise afford this test.”  

Congenital Hyperinsulinism International was set up by eight parents of children with congenital hyperinsulinism from Australia, the US, Canada, and Ireland, and one nurse caring for a child with hyperinsulinism. It held its first conference in 2006, and is now a leading global organization in raising awareness, providing information and bringing together families from across the world who are affected by the condition.

The non-profit organisation has so far pledged nearly £17,700 to cover six months’ of testing. It intends to contribute a further £35,000 to cover 18 months in total.

Julie Raskin, Executive Director of Congenital Hyperinsulinism International, co-founded the charitable organisation. Her son, Ben, was born with congenital hyperinsulinism and is now 22 years old.

Julie said: “We are on a mission to end preventable brain damage and death from congenital hyperinsulinism and to ensure those living with it get the best possible care. Partnering with the University of Exeter Medical School to ensure that cost and geography are not barriers to genetic testing is an enormous step forward for the global congenital hyperinsulinism community.”

Date: 16 July 2018