It is a newly understood form of diabetes that has been misdiagnosed as type 1 or type 2 because most doctors aren’t aware of it.
As type 1 or type 2 because neither they nor their physicians know about the possibility of a different diagnosis and treatment.
People with type 1 do not produce insulin because their bodies destroy the insulin-producing cells. Most with monogenic diabetes are negative when tested for autoimmune antibodies, which is routinely done when the person is first diagnosed with diabetes.
where the body doesn’t produce enough insulin for various reasons.
but a key channel won’t open and close because of the genetic mutation. Scientists discovered that an oral medication (a sulfonylurea), fixes the channel allowing the body to make and secrete insulin on its own. Imagine a gate that is stuck in one position. When fixed, it is able to open and close normally.
Scientists do not yet fully understand why genetic mutations occur. They do know that some are inherited and passed down from parents to their children. Other mutations happen spontaneously at conception. These are called “de novo” mutations.
Because monogenic diabetes is a genetic condition, the only accurate way to diagnose it is through genetic testing. Performed by a number of academic and commercial organizations throughout the world, the patient’s DNA is analyzed through either a blood or saliva sample.
There are currently over 1000 families registered and more than 350 of these have been found to have a form of monogenic diabetes.
It requires Illinois physicians to register all children with diabetes onset before 12 months of age with the state Department of Public Health. It is a pilot program to advance understanding of the genetic causes of diabetes.
When switched from insulin shots to sulfonylurea drugs, many experience dramatic improvements, such as walking and talking for the first time, and an increase in IQ and motor skills. This is another area that scientists are working to better understand.
These individuals take the pills daily and will do so for the rest of their lives. Like everyone, they must maintain a healthy diet and lifestyle, but no longer need to count carbohydrates as they did before. They also don’t need to constantly test their blood sugars, as most are very stable and normal. They also are no longer at risk of the frightening complications that come with insulin and uncontrolled blood sugars.