Finding Zebras: Type 1 diabetes and #thedress

I lost a good friend last week. She was very talented, ambitious, and far too young to part this world. She was 27. My friend passed away due to complications of Type 1 diabetes. An autoimmune diseases that attacks the pancreas causing it to cease producing insulin.

Due to my volunteer work, I know many people with T1D. We’ve had a number of conversations about our dearly departed, mourning in our own way, including where we all met, favorite memories, and funny stories. People living with T1D have unique stories about their diabetes anniversary or their diagnosis day. It sparked a conversation on how we approach the diagnosis of rare diseases.

“When you hear hooves, think horses, not zebras”

This is a common heuristic frequently used to train doctors. Start with horses and continue through the diagnosis elimination game from the highest probability to the lowest. This makes sense as when dealing with any issue, it’s most efficient to go from highest to lowest. Unless, of course, you practice medicine on the plains of Africa, in which case thinking zebras may be more appropriate.

An anecdote of when this works, a friend did his residency in Newark, NJ. Patients would come in showing symptoms of low blood pressure and slow heart rates, often diagnosed as dehydration, but in Newark, this is often a heroine overdose, so the ER doc starts with Narcan to treat an overdose, waits, if that doesn’t work, they proceed to dehydration and other diagnoses.

When it comes to diagnosing an adult with Type 1 diabetes, these are classic zebras. Type 1 is rare, accounting for less than 5% of all new diabetes diagnosis and an even smaller fraction of adults. Type 1 has a reputation of being a juvenile’s disease even though roughly half of newly diagnosed are adults. JDRF, the leading non-profit for Type 1 Diabetes research, recently rebranded from Juvenile Diabetes Research Foundation to remove the “juvenile” to reflect this reality. Even a healthcare non-profit will KFC it’s brand when required.

Note to young readers: Kentucky Fried Chicken rebranded to KFC back in 1991. There are some entertaining articles on whether they rebranded to remove the unhealthy sounding “fried” label, avoiding paying royalties to the state of Kentucky, or even accusations the meat is not real “chicken”. Google away, I don’t know the real reason, but tend to believe the “fried” one. But I digress.

Here’s a common encounter with a doctor that results in a horse diagnosis instead of a zebra.

Doctor: what seems to be the problem?

Patient (young adult male): I wake up frequently during the night, very thirsty, I pee a lot, and have lost a lot of weight.

Doctor: Okay, let’s do an A1C test, I’ll measure your blood sugar here (it’s high), diagnoses: Type 2 Diabetes.

The doctor in this case will hear even more horses if the patient is African American or Native American, demographics with a much higher rate of Type 2 diabetes.

There is a major difference between Type 1 and Type 2 diabetes. I’ll oversimplify, but in Type 1 diabetes, your body stops producing insulin, in Type 2 diabetes, your blood does not absorb the insulin your pancreas produces. (My friends at Tidepool do a good job explaining it here.)

When someone is given pills that helps them absorb insulin that their body is not producing, nothing happens, their Type 1 symptoms get worse, more often than not, ending up in the ER. Shockingly, it is not a surprise than most diagnoses of Type 1 diabetes happen in the ER.

This method seems inadequate, especially with zebras among us. The diffusion through the elimination game, in some cases, not only risks people’s lives, but also creates, in this instance, an ER diagnoses that is much more expensive than the an additional test.

This is not limited to Type 1 Diabetes. Do you know anyone with celiac? Ask them what their experience leading to a celiac diagnosis is like. Terrifying.

This makes spotting zebras the diagnostic meme of #thedress, the viral phenomenon, not the Lewinsky dress.

A better way to diagnose

Less you start to think I’m blaming doctors for the misdiagnosis, that is not the case. The doctors are practicing medicine exactly the way they have been trained. It would be unrealistic to expect doctors to be aware of all the rare diseases out there.

Another approach would be to automate the process with computers. In a 2012 Wired article, Vinod Khosla famously quoted computers will replace 80% of doctors. IBM’s Watson has been tasked with this solution in cancer and other areas. A number of other startups seek to provide more accurate and timely diagnoses through specialized diagnoses.

These home diagnostics still require engagement from the largest untapped healthcare resource available, the patients themselves. The majority, albeit small sample size, of cases I have encountered where a friend has been correctly diagnosed with Type 1 diabetes and other rare conditions before an ER visit, the catalyst was a well informed patient or family member.

Take my niece, for instance, 12 years ago she frequently awoke at night and was drinking excessive amounts of water. My mother, who can play the role of hypochondriac, as grandmothers are want to do, had the appropriate home testing kits (i.e.: pee sticks) necessary to give a preliminary diagnosis of diabetes. One of the instances where a child’s diagnosis did not happen in an ER.

Or my friend, who received the above Type 2 diagnosis, but refused to accept it until finding the correct specialist and appropriate diagnosis.

As we learn more about the complexities of specific diseases, and learn more about the long tale of diagnosis, which appears to be getting longer rather than shorter, I suspect we’ll see many more zebras and fewer horses.

Like what you read? Give Chris DeNoia a round of applause.

From a quick cheer to a standing ovation, clap to show how much you enjoyed this story.