Teen's mystery illness solved: "It took 18 years to get an answer"
Summary
Lucia Adarve spent 18 years with many health problems and unclear diagnoses. Doctors at a special clinic used advanced genetic testing to find she has a rare condition called Jordan syndrome, which affects brain development and movement.Key Facts
- Lucia had seizures, balance problems, and sensitivity to sounds and lights since birth.
- She was diagnosed with multiple conditions but none fully matched her symptoms.
- Her mother homeschooled her and tried different therapies to help her development.
- In 2025, neurologist Dr. Todd Arthur listened carefully and referred her to the Undiagnosed Disease Clinic.
- The clinic uses whole genome sequencing to study all of a person’s DNA to find rare diseases.
- Lucia’s gene test showed a mutation in PPP2R5D, causing Jordan syndrome.
- Jordan syndrome is very rare, with fewer than 500 known cases worldwide.
- The condition can cause developmental delays, large head size, and movement difficulties.
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