A diagnosis of monogenic neonatal diabetes might change the course of treatment for you or your child.
Monogenic forms of neonatal diabetes (usually diagnosed by 6 months of age) can be caused by a mutation in any one of several genes, including KCNJ11, INS, ABCC8, GCK, PDX1, EIF2AK3, as well as defects related to chromosome 6q24.
If you or your child carries a mutation in the KCNJ11 or ABCC8 gene, a switch to sulfonylurea pills, rather than insulin injections, may be possible. These pills allow the body to start making enough of its own insulin to keep blood sugar levels normal. Even some adults who have been treated with insulin all of their lives have been able to switch to insulin once they discovered that they had monogenic diabetes.
People with other gene mutations, including INS and EIF2AK3, must continue taking insulin replacement therapy, as there are not yet any other treatments known to work for these types of monogenic diabetes.
Genetic testing can identify the type of diabetes you or your child has.
If you or your child has monogenic neonatal diabetes, it is very important to be under the care of a knowledgeable specialist, who will work with you to develop a plan for medications, nutrition, exercise, education and other activities.