Katia Moritz

Katia Moritz, 48, is a clinical psychologist and creator/director of the forthcoming documentary, Undiagnosed, which has been following the patients in the CLARITY Undiagnosed Challenge for the past three years and is filming parts of the Challenge.

Katia was healthy until undergoing an endoscopy in 2010. Almost immediately on waking, she had flu-like symptoms, low-grade fever, pain in her upper right quadrant and a feeling of being impaled by a sharp object. The symptoms became episodic, lasting 72 hours on average. No evidence has been found of any endoscopy complication, such as infection, that would explain her symptoms.

Over time, Katia has begun experiencing other problems: swallowing difficulties, a feeling that her esophagus is swollen, debilitating headaches, visual disturbances, pain behind her eyes, muscle fatigue and cramping, hair loss, strong urges to sleep and blood-flow problems in her extremities accompanied by a burning sensation and mottled, purplish skin. She has been diagnosed with a carnitine deficiency, autonomic and peripheral neuropathy, a spinal hemangioma, pulmonary changes and esophageal and vocal cord dysfunction. The muscle problems are getting worse and Katia now sometimes has difficulty breathing.

Katia hopes the CLARITY Undiagnosed Challenge, together with her film, will help raise awareness, give hope and change how the medical community approaches rare, hard-to-diagnose conditions. "For myself, the goal is to learn more about my condition and where I can go for help, what to do next," she says.

What CLARITY Undiagnosed found

The Challenge found no potential new genes, but had two confirmatory findings and helped rule out a gene identified previously.

The teams first affirmed that Katia is a carrier for a variant in GBA, the gene associated with Gaucher disease, whose major symptoms include an enlarged liver and spleen, anemia, easy bruising caused by a decrease in blood platelets, lung disease, and bone problems such as pain, fractures and arthritis.

Katia was also confirmed to be a carrier for familial Mediterranean fever. Caused by the gene MEFV, this is an episodic inflammatory disorder that is often accompanied by fever and sometimes rash or headache. It is traditionally a recessive condition, requiring two genetic changes (one from each parent) to cause symptoms, but in rare cases, symptoms can present from only one genetic change. Another genetic change was found in NLRP3 which may be involved in the same pathway as MEFV and modify its effects in Katia.

One genetic change that had previously been reported to Katia was ruled out through the Challenge. A DCTN1 variant had been reported as causative of a rare condition called Perry syndrome, but the variant is actually found somewhat commonly in the healthy population.

Because the symptoms seemed to begin soon after endoscopy, many of the teams looked for pharmacogenomic variants — differences in genes involved in metabolizing drugs — thinking that the anesthesia for the procedure might have triggered her symptoms. Although some teams found genetic differences, the judges did not deem the findings plausible, since adverse anesthesia reactions would be expected to be constant, not episodic. So whether the endoscopy could have triggered something as yet unknown, or whether the timing was simply coincidental, is still unknown.

Katia is enrolled with the Manton Center, which will further analyze her sequencing results. Based on her clinical picture, it was recommended she see a rheumatologist.