Julie Raskin, Executive Director of Congenital Hyperinsulinism International (CHI) explains the three key issues the CHI provides to its community:
Regarding support, Raskin noted that CHI supports families in many ways, including “helping them just cope with having the disease, connecting them with other people who have the disease, connecting them to resources, connecting them to the best clinicians and researchers in the world to clinical trials, and in some cases, helping them to gain access to medications and treatments.”
For awareness, CHI is education the medical community about the pathophysiology of the disease, which is the overproduction of insulin that causes severe hypoglycemia. “The brain and the body needs glucose to grow and develop. So, when a baby is born with this disease and that fuel is not available it can cause brain damage or death – so awareness is key,” noted Raskin, adding, “We have literature in 19 languages and so it’s really important to get the word out about this condition and about guidelines for detecting it,”
Finally, CHI is highly involved in financing research. “We work on pilot grants. We work with the University of Pennsylvania, with a million-dollar bike ride, and every year were able to fund a pilot graft for congenital hyperinsulinism research,” stated Raskin, adding that CHI has also involved in the global registry to help develop a natural history study for this disease.
Congenital hyperinsulinism occurs in approximately 1/25,000 to 1/50,000 births. According to CHI, approximately 60% of babies with congenital hyperinsulinism develop hypoglycemia during the first month of life. Brain damage can occur in children with this rare condition if it is not recognized or if treatment is ineffective in the prevention of hypoglycemia. In this disease, the pancreas does not respond properly to blood glucose level and makes insulin independent of the blood glucose concentration. As a result, the baby or child with congenital hyperinsulinism can develop hypoglycemia at any time but particularly when fasting.
For more information, visit congenitalhi.org/