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What Is Maturity Onset Diabetes of the Young (MODY)?

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Over 28 million people have been diagnosed with diabetes and an estimated additional 8.5 million people are undiagnosed but meet the criteria for having diabetes in the U.S.. In total, that’s over 37 million people with diabetes, according to the Centers for Disease Control and Prevention. But diagnosis, may not be a straightforward diagnosis of pre-diabetes, Type 2 or Type 1 diabetes. There are some “other types” of diabetes that are frequently misdiagnosed.

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I recently met a woman named Rena who experienced a misdiagnosis. I hope sharing her diabetes diagnosis story builds awareness of misdiagnosis and some other types of diabetes many people are not familiar with.

What Is Maturity Onset Diabetes of the Young (MODY)?

Diabetes Signs and Symptoms

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Rena, who was in her late 30s at the time, was very athletic and a marathon runner. She had no pre-existing medical conditions. Physically, she was healthy, but she experienced a couple of personal and physical life stressors. I’m pointing this out because stress can be a preceptor to a diabetes diagnosis.

It just so happens that Rena needed back surgery. Back surgery is one area of the body that doesn’t have any increased risk factors for diabetes. But as with any surgery, there are pre-operative tests that are required in order to prevent any surprises during surgery.

This is when the dominos started tumbling down for Rena. Little did she know, when an MRI was completed 6 months prior to her back surgery, the MRI showed she had many cysts on both of her kidneys, which was diagnosed as polycystic kidney disease. Looking back at her pre-op lab values, she noticed her blood sugar levels were above target. A normal blood sugar range for someone who does not have diabetes is 80-99 mg/dL when fasting or before meal. Rena’s reading was over 300 mg/dL.

Everyone was focused on the success of her back surgery, so the blood sugar level wasn’t discussed nor was she diagnosed with diabetes yet. After surgery, Rena noticed how thirsty she was. This is an important clue: One of the symptoms of an above-target blood sugar level, or hyperglycemia, is excessive thirst.

Soon after her surgery, Rena had her annual physical, which was an invaluable part of her eventual diagnosis. The primary care physician’s office called Rena immediately after receiving her lab work results. Her blood sugar was 590 mg/dL and her hemoglobin A1C was 10.1%. A normal A1C is 5.7% or below and the guideline for a diabetes diagnosis is an A1C at 6.5% or above. The doctor also ordered a C-peptide blood test. The C-peptide test can help determine the type of diabetes by measuring whether person is producing insulin.

Diagnosing MODY

But things weren’t running smoothly with Rena’s diabetes management. Her blood glucose and health weren’t lining up. She also was experiencing abdominal cramps, diarrhea, nausea and vomiting soon after she ate anything, which isn’t part of normal diabetes management. This led Rena and her medical team to question her diagnosis of Type 1 diabetes. What was happening to Rena was not typical for a Type 1 diabetes diagnosis.

It was time to do some more medical investigating. Rena’s medical team ordered genetic testing, which helped to identify more precisely what was happening with her diabetes. Her genetic testing revealed she had maturity onset diabetes for the young (MODY).

What Is MODY?

People diagnosed with MODY typically have genetic defects of beta cell function. Beta cells are located in our pancreas and have the role of producing and releasing insulin, which helps in the management of blood sugar levels. Rena’s genetic testing was able to pinpoint the precise gene mutation on the chromosomes. For Rena, it was MODY 5 (Chromosome 17, HNF-1ß).

MODY 5 is one of the common types of MODY. The genetic testing to identify the gene mutation is crucial because the treatment plan can range from nothing at all to taking an oral Type 2 diabetes medication or taking insulin. At this time, there are 14 different genes that have been identified, including six genes that correspond to MODY’s six subtypes.

Genetic testing helps the patient and medical team identify a treatment plan. Rena continued to monitor her blood sugar, take insulin and include healthy lifestyle behaviors.

Rena was able to get her hemoglobin A1C down to 7.1% in just six weeks, but she continued to have complications. Rena was having gastrointestinal issues called dumping syndrome, gastroparesis and also received a diagnosis of celiac disease and low magnesium levels. In dumping syndrome, food moves very quickly through your digestive system, and you aren’t able to effectively absorb nutrients from your food. This is the reason why she was experiencing nausea, vomiting and abdominal cramps. Gastroparesis, which is a delay in stomach emptying, is somewhat the opposite of dumping syndrome, but also causes nausea, vomiting and abdominal cramps.

This isn’t just a diabetes diagnosis, it’s a systemic issue.

Managing a Different Type of Diabetes

Rena sought medical teams that specialize in diabetes to manage the MODY 5 portion of her diagnosis and another medical team for her secondary symptoms of gastric issues, celiac and low magnesium levels. She has changed how she eats, including the quantity and timing of her meals. She’s also taking digestive enzymes and an IV of magnesium to rectify her low magnesium levels – in addition to managing her blood sugar.

When you were diagnosed with Type 1 or Type 2 diabetes, did your symptoms match all the checkboxes? Maybe not.

You generally don’t see MODY listed on the CDC website for prevalence in the United States. It is considered a rare diagnosis of diabetes. Rena teaches us an important lesson with her story. We need to use our voice to ask our medical team questions and advocate for ourselves to find out the reasons for our medical symptoms.

If your blood sugar and hemoglobin A1C aren’t improving with medically recommended treatment, you should consult with a medical expert to consider this rare form of diabetes related to genetic mutations. One last note, since this diagnosis is related to gene mutations, it is an inherited condition. It is highly suggested to have your children go through the genetic testing if you are diagnosed with MODY.

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Bernard Greenhall
Bernard Greenhall

Bernard is a sports and physical education expert with years of experience. He's passionate about promoting health and wellness through physical activity, and he's worked with athletes and non-athletes alike to help them achieve their fitness goals. Bernard holds a degree in Physical Education and is dedicated to staying up-to-date with the latest trends and research in his field.

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