Our Quest for an ICD-10 Code for STXBP1-Related Disorders
In June 2021, the STXBP1 Foundation applied for an ICD-10 code. After almost two years of lobbying, we were invited to present our case for the need for a code for STXBP1 on March 8!
What is an ICD-10 code and why would we want one for STXBP1?
ICD stands for “International Statistical Classification of Diseases and Related Health Problems.” ICD version 10, or ICD-10, is maintained by the World Health Organization and in the US the Centers for Disease Control (CDC).
ICD-10 codes are used by healthcare providers to record diagnoses, symptoms and procedures. You've probably heard of ICD-10 codes (and CPT codes) related to insurance and insurance coverage. Because ICD-10 codes are captured in our patient medical records they are also very useful for identifying patients with a specific condition, and tracking patient outcomes.
As we get closer to therapies, an ICD-10 code for STXBP1 would help us to better understand what care patients are getting, what types of medical providers and medical visits or procedures our STX'ers have, what their symptoms are, and also importantly to find patients - all based on medical record data!
Without an ICD-10 code, even if an individual has a genetic diagnosis for STXBP1-related disorder, it can be difficult to track this information in the medical record. And, because the symptoms of STXBP1 overlap with a lot of other neurodevelopmental disorders (seizures, developmental delay, intellectual disability, motor issues, etc.), we can't use symptoms to accurately identify STXBP1 patients.
Want to learn more about ICD-10 codes?
Here are a couple of great resources:
Blog post from IDefine, a patient advocacy group for Kleefstra Syndrome, another rare neurodevelopmental disorder, on the value of an ICD-10 code: https://www.idefine.org/cso-corner-volume-2-icd-10-codes/
ICD Code Roadmap Resource Guide from advocacy organization, Everylife Foundation: https://everylifefoundation.org/icd-code-roadmap/#toggle-id-2
Do we have an ICD-10 Code now?
We do not have an ICD-10 code for STXBP1. On March 8, 2023, Dr. Ingo Helbig from Children's Hospital of Philadelphia presented a clear case for why we need an ICD-10 code to the Centers for Disease Control (CDC). Next is a comment and review period for all of the proposals for an ICD-10 code. The STXBP1 Foundation will continue to be very active during this time to support the case we have presented, and answer any follow up questions.
What you can do
The CDC has indicated that a prevalence (known or diagnosed patients) of at least 1:1,000,000 may be necessary to get an ICD-10 code. If we could identify at least 330 patients in the U.S., we could show that prevalence is at least that high. We are very close. Right now, we have ~280 US families in our Contact List. If you haven't signed up yet, now is the time! We are also planning to publish our first global census at the end of March so even more reason to act! Sign up here: https://www.stxbp1disorders.org/contact-list