Julie Raskin As a bit of a follow up to the last post about genetic screening, I thought this article by Dr. Benjamin Glaser might be a good addition. Here is an exerpt: Mutations in ABCC8, KCNJ11, GLUD1, GCK, and HADHSC are known to be associated with FHI. About 45% of affected individuals have mutations in ABCC8 and about 5% havemutations in the coding region of KCNJ11. … Read more
Carriers of a genetic mutation caused by the ABCC8 gene which can result in children with congenital hyperinsulinism (HI), can now be tested at fertility clinics in many locations around the country through a simple saliva test. The test, made by a California company, Counsyl, actually screens for 100 different rare disorders including HI. An … Read more
Save the Date CHI Family Conference June 18 & 19, 2010 San Diego, CA Exact Location TBA Congenital Hyperinsulinism International (CHI) invites you to attend the third Congenital Hyperinsulinism Family Conference. This conference is intended for individuals with Congenital Hyperinsulinism (HI) as well as family members and caregivers of those with HI. Speakers and participants … Read more
In November, CHI (Congenital Hyperinsulinism International) qualified for membership to NORD, The National Organization for Rare Diseases. “This is really good news for CHI,” said Isabel Calderon the CHI Board of Directors liaison to NORD. “With this membership, CHI will be able to benefit from NORD’s many resources and services.” Prior to the creation of … Read more
Qualitest Pharmaceuticals in Huntsville, Alabama, USA has announced a recall of 250 million insulin syringes. If the needle becomes detached from the syringe during use, it can become stuck in the insulin vial, push back into the syringe, or remain in the skin after an injection, the company said. Consumers who have these products should … Read more