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We recently received the results of Boy1’s genetic testing, and—drumroll, please—we’ve pinpointed a diagnosis: SETBP1-Related Neurodevelopmental Disorder. While I’m still wrapping my head around all the details of this condition, I’m committed to learning more each day.

Exploring SETBP1 on the National Institute of Mental Health (NIMH) website was quite eye-opening. I was struck by the extensive list of symptoms associated with this disorder, many of which align with Boy1’s experiences. These include motor developmental delays, learning difficulties, speech and language disorders, seizures, attention-deficit/hyperactivity disorder (ADHD), strabismus, and subtle dysmorphic features. Out of all these, there are only 2-3 symptoms I can’t confirm due to gaps in our medical history—it’s astounding how many fit.

Fortunately, SETBP1 has a dedicated organization, the SETBP1 Society, which provides valuable resources and a supportive community for families affected by this rare disorder. I’m eager to connect with others, learn more, and explore ways we might contribute to research and advocacy. According to Simons Searchlight, there were only 142 identified individuals with SETBP1 as of 2022. This rarity, coupled with the overlap with other conditions like autism and ADHD, makes me wonder how many cases might go under-diagnosed. How many individuals with similar symptoms might be missing out on a definitive diagnosis?

For those interested in learning more about SETBP1, here are some useful resources:

• What is SETBP1? (from the SETBP1 Society website)
• SETBP1 (from RareDiseases.org)

Featured image courtesy of Deposit Photos artist 02685512.