Our Daughter’s Story
In September 2018, our 9-year-old daughter was admitted to the hospital in Diabetic Ketoacidosis (DKA).
In hindsight, the signs were all there – she had been urinating frequently, drinking lots of milk at meals, and losing weight. But we didn’t have anyone with type 1 (T1D) diabetes in our family, so we didn’t recognize what was happening. Her diagnosis involved a panicked drive through rush-hour traffic to the hospital, followed by IVs, an insulin drip, and a stay in the ICU. During the hospital stay, my daughter, my husband and I were inundated with information: short-acting insulin, long-acting insulin, carb counting, what to do when she went low, what to do when she went high, how to dose glucagon, going back to school. All three of us felt unprepared and overwhelmed. These felt like life and death issues, and we only had two days to get up to speed.
If this sounds familiar, it’s because ours is a very typical story. For 85-90% of people who are diagnosed with T1D, there is no prior family history. Consequently, most families are unfamiliar with the symptoms. In the US, 40-60% of children and teens are in DKA at the time of their diagnosis.
What can prevent an outcome like ours, characterized by panic and fear?
What is Screening for T1D?
Type 1 diabetes is an autoimmune disease. This means that the body develops antibodies against itself. In T1D, these autoantibodies attack the insulin-producing beta cells in the pancreas. Four autoantibodies have been identified as being specifically linked to development of T1D: Insulin Autoantibody (IAA), GAD Autoantibody, IA-2 Autoantibody, and Zinc Transporter 8 Autoantibody (ZnT8). These autoantibodies develop over time. Screening involves a blood test, which identifies whether a person has developed any of these T1D autoantibodies.
For the general population in the United States, the risk of developing T1D is ~1 in 300 or 0.3%.
For people with a first-degree relative with T1D (sibling, child or parent), the risk is 15x higher, or ~1 in 20, or 5%.
Stages of T1D
T1D disease progression occurs in stages, as outlined in the graphic below.
- Stage 1 is when a person has two or more autoantibodies, but normal blood sugar and no clinical symptoms.
- Stage 2 is when a person has two or more autoantibodies and mildly abnormal blood sugars, but still without clinical symptoms.
- Stage 3 is when a person has elevated blood sugars in the diabetic range, usually has clinical symptoms of diabetes (frequent urination, increased thirst, and weight loss), and is clinically diagnosed.
Our False Confidence
After we had missed our daughter’s diagnosis, we thought we would never miss a diagnosis in one of our other three children. So, when we heard about autoantibody screening, we weren’t particularly interested. At the time, in 2018, there was no intervention available on the market and we didn’t want our other kids to potentially have to live with the threat of T1D hanging over their heads. We thought testing would make us all anxious.
Fast forward to this summer when our son texted from college to say his doctor found that his A1C was elevated. Guess who was anxious now?? We found ourselves in a mad scramble once more, this time to get our kids screened. The truth was, we might have missed the diagnosis again, especially with young adult children living away from home.
- Prevent diabetic ketoacidosis (DKA) at diagnosis: The rate of DKA at diagnosis falls from 40-60% in kids in the United States without screening to 3-6% in kids who have been screened. Children with DKA at diagnosis have overall higher lifetime glucose levels. DKA at diagnosis also can affect brain function and lead to altered brain development.
- Intervene to delay Stage 3 T1D: In November 2022, the FDA approved Teplizumab-mzwv (Tzield), a drug that delays the progression of Stage 2 to Stage 3 by an average of almost three years. That’s three years without finger sticks, CGMs, carb counting, insulin injections, glucagon scares, etc. It’s also three years of time for the development of additional interventions to further delay this disease.
- Identify people to invite to participate in research studies: With JDRF’s help, T1D research is making huge strides, as scientists explore new ways to delay and prevent T1D at different stages along the pathway. When you know your autoantibody status, you can take advantage of the clinical trials available to help in your stage of T1D.
- Give individuals and families time to prepare: When a person receives a diagnosis of T1D, there is a lot to learn. Being able to prepare for the diagnosis over months to years allows this learning to occur in a structured, calm environment. Studies have shown that, while parental anxiety does increase after screening with a positive result, this anxiety usually lessens over time. Individuals and families who receive regular follow-up screening after an initial positive test develop greater familiarity with medical providers and procedures. Thus, stress at the time when insulin therapy eventually is needed is significantly lower in children and parents when the child was previously identified through screening.
Ways to Screen
What Do the Results Mean?
Zero autoantibodies indicates low risk for developing T1D. TrialNet data show that, on average, when testing first-degree relatives ages 2.5 – 45 years of someone with T1D, a negative antibody test lowers the person’s risk to the same risk as seen in the general population (i.e. their risk drops from 5% down to 0.3%). On this basis, TrialNet does not offer repeat screening for an individual who tests negative on the initial screen. However, repeat testing is available through the ASK Program for children up to age 18 at no cost, as well as through testing at any age ordered by your doctor.
While a negative result is reassuring, families should continue to monitor for signs of elevated blood sugar (increased thirst, increased urination, weight loss, fatigue), particularly in very young children.
One autoantibody is NOT considered to be a diagnosis of T1D. However, if a person tests positive for one antibody, they are eligible to take part in the TrialNet study for follow-up screening at no cost. This is because scientists are still trying to learn more about people who have a single autoantibody and their risk of developing T1D. Individuals with a single autoantibody can also receive individualized advice by contacting Ask the Experts, who may recommend ongoing testing to monitor for the development of more autoantibodies. You can find links to both TrialNet and Ask the Experts at www.jdrf.org/T1Detect
Two or more autoantibodies can indicate the start of T1D. If a person tests positive for two or more autoantibodies, they will need additional testing to confirm the autoantibodies and to determine if their blood glucose regulation is still normal. A person with 2 or more persistent autoantibodies has a near 100% lifetime risk of developing a clinical diagnosis of T1D. Depending on the results of the glucose testing, a person with 2 or more persistent autoantibodies may be a candidate for medications to delay the progression of T1D. They also may be a candidate for clinical trials.
Our Family: Where We Are Now
We have now screened all our children for T1D. We got negative results for our son and one of our daughters. We are still waiting on the results for one more daughter.
Keep in mind that, even with a family history of T1D, ~95-97% of family members will still screen negative.
If you haven’t yet screened yourself or other members of your family, I encourage you to put it on your to-do list. In our family, we are glad that we finally did.
–Laura Tremblay, JDRF Research Information and Clinical Trial Education Volunteer