Skip to main content

Twelve Numbers That Will Change Lives

By creating ICD codes for leukodystrophies, researchers put a dozen rare diseases on the map.

Julie Kiefer, University of Utah Health


Tina Holman never looks forward to bringing her daughter Savannah to a clinician they haven’t seen before. She knows that, yet again, she’ll need to explain her daughter’s rare condition, vanishing white matter disease, and answer questions about her extensive medical history. 

Her family never expected that Savannah would develop a medically complex condition. She hit childhood milestones—talking, walking, running—until age 4, when it became hard for her to stay balanced. By 6 years old, she was in a wheelchair, and at 10 her back started to curve from scoliosis until it was at an 80-degree angle. 

Now, at age 21, Savannah’s back is fused straight. But she still needs a wheelchair, is developmentally delayed, and lacks coordination, making it hard for her to do everyday tasks. That doesn’t stop her from enjoying school, where she is learning how to do laundry, cooking, cleaning, and “everything,” Savannah exclaims with a smile. “Overall, she is doing really well,” Tina says.

“It’s like the starting bell is now for these diseases.”
Joshua Bonkowsky MD, PhD

Despite successes, a lack of readily accessible information on Savannah’s disease has limited her care, according to Joshua Bonkowsky, MD, PhD, her pediatric neurologist at University of Utah Health and Intermountain Primary Children’s Hospital. In collaboration with Monika Baker, an MD/PhD student at the U, they arrived at a solution that could one day benefit patients like Savannah worldwide. 

In a two-year process that entailed rigorous reviews by national committees, a public comment period, and a face-to-face defense., the clinician-scientists successfully landed 12 new codes in the International Statistical Classification of Diseases and Related Health Problems 10th edition Clinical Modification (ICD-10-CM), a medical classification list maintained by the National Center for Health Statistics.

Getting a single new code is considered a feat, so 12 is a phenomenon. All were for different types of leukodystrophies, diseases that are in the same class as Savannah’s.

“We got this done because we were stubborn,” Baker says. “I hope we’ve been able to show a pathway for others.”

Originally designed for medical billing, ICD codes are obscure outside the medical field. But scientists are increasingly recognizing their utility beyond this singular purpose. The code (G11.6 for vanishing white matter disease) acts like a library’s Dewey decimal system or a social media hashtag. Searching for a disease’s code pulls out data on just that disease from a sea of doctor’s notes in electronic health records.

ICD-10-CM codes
Pediatric neurologist Joshua Bonkowsky, MD, with Savannah Holman and her mother Tina. Savannah has a rare and difficult to treat condition called vanishing white matter disease.

With this tool, health care providers and researchers can turn up descriptions of the range and severity of symptoms for that disease, available tests, treatments and services, how patients respond, how the disease changes over time, and much more. For health care providers, a code offers a way to learn about a disease based on information from patients worldwide, and they can use it to connect patients to treatments and clinical trials. For scientists, it provides a toehold for additional research that can eventually lead to improved care for patients.

“Before, everything was a blur. Now we can focus in and see what’s happening,” Bonkowsky says. “It’s a tool we didn’t have before.”

ICD-10-CM has more than 68,000 codes that include listings ranging from heart disease to blood infection to being sucked into a jet engine. The ICD committee originally was hesitant to grant so many codes for leukodystrophies. However, working with Bonkowsky and Baker, they developed 12 new codes that have the greatest potential to benefit patients. The newest listings are for some of the more common leukodystrophies and conditions with treatments that are FDA-approved or close to approval. 

ICD-10-CM codes
ICD-10-CM codes allow health care providers and researchers to collate information on specific diseases from patients worldwide, which can lead to improvements in patient care and accelerate research. Bonkowsky and Monika Baker, PhD, created new ICD-10-CM codes for 12 leukodystrophies and reclassified three codes.

Case in point: Savannah is now taking part in a clinical trial. With the ICD code for vanishing white matter disease launching on October 1, the information gained from her experience has a better chance of being seen by other clinicians treating patients like her. Then, health care providers and families will be empowered to decide if that same course of action is right for them.

“It’s unfortunate we had to wait so long,” Bonkowsky says. “It’s like the starting bell is now for these diseases.”