Type 1 diabetes is a complex chronic autoimmune disease that sneaks up on people. Its symptoms are slow-developing and seemingly unconnected, so it doesn’t seem dangerous unless one knows they fit the pattern for Type 1 diabetes. When the disease is misdiagnosed or not caught in time, people can go into diabetic ketoacidosis (DKA), a serious, life-threatening condition. In fact, the journal Pediatrics reported in 2014 that fully 40 percent of newly-diagnosed American preschoolers and 30 percent of those ages 5-14 didn’t get diagnosed until hospitalized for DKA.
In 2020, the Juvenile Diabetes Research Foundation (JDRF) implemented a national education and awareness program to reduce the number of children who have DKA at time of diagnosis. Its T1Detect program aims for far more than that, however; not just to catch Type 1 onset before DKA develops, but also to delay, prevent and one day cure the disease. This ambitious program begins with a simple blood test that JDRF makes available to the general public. The test screens for the presence of Type 1 diabetes (T1D) autoantibodies—a tell-tale sign that the body has silently begun to attack its own cells as if they were invading pathogens. So, who should get tested?
The short answer is: Everyone who is willing! Here’s why: Type 1 diabetes is particularly brutal because it gradually destroys the body’s ability to produce insulin for months or years before any outward symptoms appear. While there seems to be a genetic component to the disease, it takes a perfect storm to set the disease in motion, usually a virus of some sort in conjunction with genetic susceptibility and environmental influences. It causes the body to attack the pancreas, killing more and more of its insulin-producing beta cells. The damage is permanent. Without insulin to get blood sugar into the body’s energy-hungry cells, it builds up, unused, in the blood stream. Unable to use blood glucose for energy, the body starts to burn fat for energy. As more of this alternative form of energy (ketones) enters the bloodstream, the blood becomes increasingly acidic and eventually causes DKA. If left unchecked, DKA can lead to brain swelling, kidney failure, coma and death.
Many families don’t recognize the onset of Type 1 until its seemingly disconnected symptoms become so consistent and severe that they cohere into an unmistakable health emergency. DKA can send a family member to the hospital at death’s door. Hospitalization is bad enough, but DKA is like a bomb suddenly exploding in their lives. It’s a traumatic way to receive a diagnosis of a life-changing disease. Parents tend to leave the hospital terrified by the complexities of safely and effectively managing their child’s condition.
Unfortunately, doctors can also miss the symptoms of Type 1 onset and even imminent DKA, which delays treatment and risks more serious complications. Symptoms are sometimes misdiagnosed as a stomach bug, urinary tract infection, stomach flu, growth spurt or strep throat. The wide array of symptoms that signal onset helps explain why its onset may be misdiagnosed. The common symptoms of chronically insufficient insulin are weight loss, increased appetite, frequent urination, extreme thirst, wounds unable to heal, tiredness and lethargy, stomach pain, headaches, fruity breath, extreme hunger, nausea, vomiting, confusion and blurred vision. Their convergence warrants an urgent trip to the emergency room.
JDRF’s T1Detect test works as an early warning system for families and healthcare providers by revealing the tell-tale signs of this destructive autoimmune process well before its damage produces outward symptoms. The number of autoantibodies detected, from none to three, indicates degree of lifetime risk for developing Type 1 and, if already developing, how fast it might progress. For instance, children with two or more autoantibodies have a 25 percent risk of developing Type 1 in three years and a 70 percent risk within 10 years. The progression toward Type 1 is divided into three stages. Stages 1 and 2 are both presymptomatic (no outwardly visible symptoms of Type 1). Both may have two or more autoantibodies present, but stage two is characterized by also having blood glucose levels above the normal range, which isn’t visible to the naked eye. Stage 3 is when the individual is symptomatic for (has developed) Type 1.
JDRF urges universal screening for T1D autoantibodies for several reasons. One is that when the risk of developing Type 1 is relatively high, people can be vigilant for symptoms, spot onset earlier, avoid the trauma and complications of DKA, and arm themselves with knowledge on how to manage Type 1 diabetes. Another is that research and clinical trials need large numbers of volunteers at different levels of risk to speed the development of ways to predict, delay, prevent, treat and perhaps cure the disease. Large studies at world-leading academic hospitals have been using T1D autoantibody tests to carry out such research.
Why should the average person be interested in getting a T1Detect test? It might not seem relevant to most people because the American population has only a 1 percent lifetime risk of developing Type 1. This percentage, however, increases to 10 percent to 20 percent if you have a first-degree relative with Type 1. Of concern, the journal Pediatrics reported in 2014 that new cases of Type 1 diabetes among youth are increasing three percent to four percent a year. About 1.6 million Americans of all ages were reported to have Type 1 in a CDC report released in 2020, a 30 percent increase from 2017. And, five million Americans are projected to have Type 1 by 2050. Perhaps a surprise to most, about 93 percent of people who develop the disease have no family history of it. That’s right, no family history required. Type 1 spares no one. Not any age, race, ethnicity or gender.
Although the medical community currently has no general standard for how often to test for T1D autoantibodies, JDRF believes that annual autoantibody testing should be considered. The T1Detect test is easy and convenient. JDRF offers an at-home test kit at a modest cost of $55 plus sales tax, or $10 for those with financial hardship (https://www.jdrf.org/t1d-resources/t1detect/). You use a finger prick to collect a few blood samples and then mail the kit back to the lab in prepaid packaging. Your test results are private and will be sent to the JDRF account you set up at time of test kit purchase. You will also receive an explanation of your results and a list of next steps advised. Individuals can opt to share their results with their doctors and the JDRF. If you want your doctor to do the test, your doctor and insurance company may need evidence of pre-existing risk factors to cover the test.
So, what do the test results mean? A positive test result (autoantibodies detected) doesn’t guarantee that Type 1 will develop, but it does indicate some risk. And even if it indicates an elevated level of risk, it can’t say when the disease will appear symptomatically, if it ever does. By the same token, a negative test result (no autoantibodies detected) doesn’t put you in the clear of ever developing Type 1, because autoantibodies can crop up at any age. But a negative result does indicate low risk at time of testing. Either way, negative or positive, JDRF suggests retesting in future years and provides timelines for follow-up testing based on prior test results. And no matter the result, it is valuable information. Knowledge is power when it comes to Type 1, and it becomes more powerful when more widely shared.
Yes, it can be unsettling to discover that you or a family member have autoantibodies putting you at greater risk of Type 1, or to learn that a negative test result doesn’t mean you are home free and will never develop it. But if you or your children are at risk, you certainly don’t want this disease to explode suddenly into your life, as it has for many families. The disease can do more damage when it hits harder and unexpectedly. If your test results indicate you are at little or no risk after repeated testing, you get some peace of mind. But whatever your test results are, you can participate in research and clinical trials to find treatments that improve people’s odds for never developing Type 1 and for curing it if they do. Getting a T1Detect test is definitely a win-win.
Lisa Seitles
Hammonton
Lisa Seitles and her husband Sam are the owners of READ Preschool and Camp Tuscaloosa. They have four children and are active members of the community.