Marathon runner and endurance athlete Susie Perkowitz has an edge this year that should help her score more than a faster time. A few years after being diagnosed with and treated for Type 2 diabetes, Perkowitz learned that she has a much lesser-known form of the disease: Maturity-Onset Diabetes of the Young (MODY).

Perkowitz’s updated diagnosis came only after genetic testing at the NorthShore Center for Personalized Medicine, which confirmed the gene abnormality for MODY. Today, the 41-year-old Deerfield resident has the right care plan for her form of diabetes and is on track for a much healthier future.

Health Challenge

There was a time when Perkowitz’s energy seemed limitless. She had successfully completed grueling races: a high-altitude marathon called the TransRockies Run and a daunting rim-to-rim trek across the Grand Canyon. But last summer her pace slowed and Perkowitz found herself losing the battle to stay healthy.

“I was getting sicker and sicker. It was so disheartening,” said Perkowitz, who experienced a host of health problems about three years after going on a Type 2 diabetes medication, including severe retinopathy that was stealing her vision.

Perkowitz met with NorthShore Endocrinologist Lisa Purdy, MD, to deal head-on with her worsening symptoms. Recognizing the unusual nature of her patient’s condition, Dr. Purdy collaborated with fellow specialist and MODY researcher Liana Billings, MD, MMSc, lead physician of NorthShore’s Center for Personalized Medicine Diabetes Consultation Clinic. Both specialists hold academic appointments at the University of Chicago Pritzker School of Medicine.

Genetic Confirmation

Through the clinic, Dr. Billings facilitated genetic testing for Perkowitz that proved to be life-changing. Perkowitz tested positive for a variation of the HNF4A gene that causes a form of MODY, which accounts for only about 2 percent of all diabetes cases. Most people with diabetes—including Perkowitz, before her genomic-based diagnosis—are unfamiliar with MODY, which typically develops in people under the age of 35 with a strong family history of diabetes and normal to overweight body type.

“This diagnosis absolutely changed my life,” said Perkowitz. “I still get chills thinking about the day I got this news.”

Dr. Billings explained that the genetic defect of HNF4A-MODY typically leads to elevated glucose levels in early adulthood, which—in most cases—can be effectively treated with a specific medication. Until her MODY diagnosis, Perkowitz was on a Type 2 diabetes drug that helps with insulin resistance. But that medication did nothing to help her MODY. Within a day after starting the new medication, Perkowitz’s blood sugar was under control. “It was a night-and-day difference,” she recalled.

“I was as excited as Susie was,” said Dr. Billings, who was participating in a national diabetes conference when Perkowitz started the new medicine. The two were in frequent contact, electronically checking the numbers from Perkowitz’s continuous  glucose monitoring machine and assessing her health. “Seeing Susie’s immediate improvement, I wore a smile on my face for the rest of the conference!”

NorthShore’s personalized medicine clinic is a leader in this emerging area of diabetes, thoroughly  valuating patients to see if genetic testing is appropriate and streamlining the testing process—including encouraging insurance companies to provide coverage. “I’m a passionate advocate for raising awareness of MODY and ensuring that patients get an accurate diagnosis,” Dr. Billings added.

Many Forms of MODY

When 27-year-old Amanda Theisinger found she had elevated blood sugar at a routine health screening, she instinctively knew that something was amiss. A physical therapist, Theisinger works at a Chicago-area hospital and lives a healthy lifestyle full of exercise and nutritious eating.

A healthcare colleague told Theisinger about MODY, and the Norridge resident found her way to Dr. Billings, who determined that she, too, was a good candidate for the genetic test. While Theisinger tested positive for GCK-MODY, she has one of the mildest forms of the condition and will likely never need treatment, except possibly during pregnancy.

“Dr. Billings was great,” said Theisinger. “She explained everything so thoroughly to me and was very reassuring. I do plan to have a family in the future—and because I have MODY, I may need to be on insulin during pregnancy.”

Spreading the word

Since family history and heredity are important factors in all genetic diseases, both Perkowitz and  Theisinger have discussed MODY and genetic testing with their respective families. “My brother got tested right away, and the results were negative,” noted Theisinger. “I’m now pushing my dad to get tested since he’s a borderline Type 2 diabetic.”

With eight siblings and more than 20 nieces and nephews, the impact of Perkowitz’s diagnosis will surely grow as other family members get tested.

“If NorthShore didn’t have this program, I’d still be undiagnosed and I’d be getting sicker,” said Perkowitz, who ran the Chicago Marathon last month wearing a sign to raise MODY awareness. “My next fitness goal is completing an Ironman triathlon, and I’m super excited about it. I want to use my racing as an advocacy platform. This has saved my life and changed the trajectory of my future. I want others to learn about this and have the opportunity to be diagnosed.”

“It’s been inspiring to diagnose both Amanda and Susie and bedirectly involved in the research to learn more and raise awareness of MODY,” said Dr. Billings. “It’s extremely rewarding when you can see an immediate difference you make for your patients.”