Dominic is from Columbia. He is 16.
Diagnosis: PAPA Syndrome, Hyperzincemia with hypercalprotectinemia(HZ/HC)
Dominic was born healthy, but was losing weight, so they drew blood. He was anemic and needed a Bone Marrow Biopsy. He had to get blood transfusions from 4 months old every two weeks for years. At 3, he had to have his spleen removed, and they did genetic testing. He had platelet transfusions for 6 years. Got his Porta-Cath out in 2019. He is 1 of 6 kids. He uses a walker or wheelchair. He gets therapy at school and the CH Therapy Center.
Dominic has PAPA syndrome, which is an acronym for pyogenic arthritis, pyoderma gangrenosum and acne. It is a rare genetic disorder characterized by its effects on skin and joints. (PAPA) is an autoinflammatory disease, also known as Familial Recurrent Arthritis. This is an autosomal dominant autoinflammatory disease, which means that a person only needs to inherit a gene mutation for PAPA from one parent to have the disease, or they can have a spontaneous gene mutation that can cause the syndrome. PAPA syndrome, or a subtype of PAPA syndrome, affects less than 200,000 people in the US population. HGZG involves developmental delays.
Dominic is fairly healthy these days; most doctor’s visits are 6-month follow-ups. He is doing amazing and tries to stay active and involved at school and in other activities. He loves basketball, football, and helping out with the Battle Girls Basketball Team. Dom can now walk by himself. He asks that people donate blood and platelets because they saved his life.
His parents are Jessica and Roberto Lozano