How One Patient History Changed a Family’s Diagnosis

By Kevin M. Pantalone, DO

Six years ago, a new patient came into my clinic. He was in his early 30s and on insulin four times a day for poorly controlled type 1 diabetes.

It was a busy day and I was running behind. The fastest fix would be to adjust his insulin and move on, but I quickly asked him when he had been diagnosed.

His answer changed everything — for him, his family and me.

When the diagnosis isn’t the diagnosis

He told me he had been diagnosed as a baby. I asked him when exactly. He responded “shortly after birth,” within his first few hours of life, according to his mom.

That stopped me. It was odd to be diagnosed with type 1 that young, I told him. More likely it was neonatal diabetes, a type of diabetes that can be lifelong but is caused by a genetic disorder and is often easier to treat than type 1.

Did his mother have diabetes too? She did. So did his grandparents. So did his older brother and sister, both diagnosed shortly after birth.

His insurance plan wouldn’t cover genetic testing, but I told him that some cases of neonatal diabetes could be controlled with oral medication, a sulfonylurea. It might be worth a shot. Insulin may not be necessary for him. We talked about trying the medication, but he was very apprehensive and I lost him to follow-up.

No insulin needed after all

A year later, the older brother appeared in my clinic. He had heard about the medication from his brother and was willing to give it a try. I prescribed a combination of two pills, which eventually removed his need for insulin.

Next came the sister, who today is on a combination of three pills and one shot of insulin per day. Her diabetes control has vastly improved and she no longer needs four shots of insulin per day.

The initial patient finally followed his siblings. He’s now on a sulfonylurea — with no insulin at all — and has the best diabetes control of his life.

To live for more than 30 years thinking you have type 1 diabetes and will need blood glucose checks and insulin every day for the rest of your life, to learning you don’t need insulin at all is nothing short of a miracle.

Three tips for patient histories

Had I not asked the patient about the history of his disease, I’d never have discovered the alternative diagnosis nor recommended the treatment that eventually transformed his care and the care of his family members.

Taking detailed patient histories was a fundamental we all learned in medical school. Unfortunately, in practice it sometimes gets lost due to time constraints, reliance on past medical history recorded by other providers, and other factors. How often do we order all kinds of diagnostic tests but still never uncover the most important details, which patients, themselves, could simply tell us?

Through this experience, I’ve learned three important things:

1. Always take a thorough history. Do it when you see any patient, not just the new ones.
2. Don’t assume every diagnosis is correct. Question everything. Verify the details with the patient. Ask them what happened and when. Ask what symptoms they had and what treatments worked and didn’t work.
3. Don’t assume information previously recorded in the EMR is accurate or complete. Always review the history with the patient. When part of a patient’s story doesn’t make sense, don’t ignore it. Seek out answers.

The crux of medicine has always been establishing good rapport with patients and taking a thorough history. It’s important to get back to our basics, and not let time-crunched workdays stop us from being good investigators and caregivers.

Dr. Pantalone is a staff endocrinologist and Director of Clinical Research in the Department of Endocrinology at Cleveland Clinic.