In 2023 our son's dentist noticed a change in the jaw bone during a routine check-up. He was 9 at the time. What followed was a diagnostic journey through several specialists, a CT scan, a biopsy under general anesthesia, and a histopathology result pointing to Juvenile Ossifying Fibroma.
Based on that diagnosis, surgical treatment was being considered. We decided to additionally order a genetic test - on our own initiative, at a private laboratory. The result: a GNAS c.601C>T mutation, the most common variant in fibrous dysplasia (FD). The test corrected the diagnosis. In children with FD, in the absence of pain or functional impairment, surgery is not the standard - observation until skeletal maturity is.
Confirmation came from two sides: Prof. Mara Riminucci of Sapienza University in Rome verified the diagnosis histologically, and Prof. Natasha Appelman-Dijkstra at Leiden University Medical Center provided a consultation and a care plan. A bone scintigraphy confirmed the lesion was confined to a single site. Our son is doing well.
This journey - from an incorrect diagnosis, through independent searching for answers, to the best experts in the world - showed us what other rare-disease families confirm: knowledge asymmetry is a structural problem, not an exception. Most clinicians will never see FD in their career. There is no ready-made path. Parents have to build one themselves.
We are building GeneQuest so that this path exists. A doctor database, diagnostic guidelines, tools for researchers, and a community for families - so the next family doesn't have to go through the same thing.
Rare diseases carry a quiet stigma. If a child looks fine from the outside, people assume everything is fine. You don't build a monument to that - you build tools, community, and places where someone actually knows what you're talking about.
Every rare disease has its typical pitfalls. Below is a condensed version of our path - without names except for those already in our doctor database. This isn't a story; it's a map. A family starting a similar journey today should know what to expect and what to ask.
What I'd want to know earlier: after any biopsy suspicious for FD, order the GNAS mutation test, regardless of the initial reading. It's a genetic test that unambiguously confirms FD and can spare a child from inappropriately planned surgery. A fuller diagnostic path with ICD-10 codes and Polish lab list: diagnostics page.
Dariusz Miśkiewicz - mathematician and software engineer (30 years in enterprise software, including PayPal, Siemens, Sage). Builds AI tools for rare-disease diagnostics. Completed PCR (November 2025) and bioinformatics (December 2025) courses at the University of Gdańsk.
Dorota Miśkiewicz - MSc in molecular biotechnology (metabolism, microbiology, cell membranes). Master's thesis: identifying the gene responsible for a genetic disease using PCR. Currently completing a postgraduate "Diagnostic Laboratory Specialist" programme. Co-shapes the foundation's medical agenda.
We currently run the foundation in the evenings and on weekends, alongside our day jobs. As grants come in, we plan to scale the team gradually - both with new specialists (a medical intern, a Research Canvas lead developer) and through deeper founder engagement in the foundation's projects.