Monogenic and Atypical Diabetes Program
Some children with diabetes have symptoms and health issues that differ from patients with the most common forms of diabetes: type 1 and type 2. These patients have forms of diabetes that are described as atypical.
Monogenic diabetes
One form of atypical diabetes results from a mutation in a single gene, called monogenic diabetes. There are different types of monogenic diabetes and over twenty specific gene mutations have been identified as causes. These are grouped in two main forms: neonatal diabetes mellitus (NDM), which occurs in newborns and young infants, and maturity-onset diabetes of the young (MODY), which usually appears in adolescence or early adulthood.
Children with monogenic diabetes are often misdiagnosed with type 1 diabetes and treated with insulin injections. While some forms of monogenic diabetes do require insulin to control blood sugars, some can be treated with oral medications. In either case, some children with monogenic diabetes also require treatment for other health problems, such as digestive enzyme deficiencies, kidney cysts, low magnesium levels or autism.
Atypical forms of diabetes
Certain genetic conditions can increase the risk for developing atypical forms of diabetes. Patients with these types of atypical diabetes often have other health problems that affect multiple body systems (such as the brain, heart or liver). Conditions that may be accompanied by atypical diabetes include:
- Mitochondrial disease
- Lipodystrophy
- Friedreich’s ataxia
- Cystic fibrosis (which may be accompanied by cystic fibrosis-related diabetes)
In each of these conditions, diabetes can sometimes be the presenting symptom that leads to the genetic diagnosis. In other cases, diabetes may develop after the genetic diagnosis has been made. In either case, it is important to individualize the approach to treating diabetes in the context of a genetic diagnosis.
Treating atypical diabetes, when it accompanies one of these conditions, must be done in close collaboration with different specialists and must take into account how each treatment can affect the other condition. Our specialists work together to ensure every child with atypical diabetes is treated comprehensively.
Understanding the dynamics of diabetes when it occurs in the context of other medical conditions is also critical to effective treatment. For example, some children with mitochondrial disease may develop high blood sugar levels and require insulin when they are sick or stressed, but not at other times. Some of these same children are also at risk for low blood sugar levels.
Who we are
We are a team of physicians in the Division of Endocrinology and Diabetes who have expertise in the diagnosis and treatment of monogenic and atypical diabetes. We work closely with the many other specialists often involved in each child’s medical care. Our multidisciplinary, coordinated approach to care bridges many specialties, making it possible to meet the complex needs of children diagnosed with these conditions.
We specialize in family-centered care, providing amenities and support for families of children with these rarer forms of diabetes, and keeping the family closely involved in the care plan.
Through innovation and research, we are changing the course of treatment for many children with monogenic and atypical diabetes.
What we do
Physicians in the Monogenic and Atypical Diabetes Program perform evaluations to properly identify patients with monogenic and atypical diabetes, and to diagnose the specific forms of the conditions. We then establish individualized treatment programs for these patients, and work closely with families and other specialists to manage those treatment plans.
Our research
Physicians in the Monogenic and Atypical Diabetes Program are working diligently to identify patients with new forms of diabetes and develop effective treatment plans with the potential to benefit all patients with diabetes.