M.D. Lamiya Aliyeva Javit Reviews

A 28-year-old nomadic herder from rural Azerbaijan presented with unexplained muscle weakness and photosensitivity. Dr. Aliyeva Javit's genetic panel revealed a novel mutation in the FECH gene, causing a severe form of erythropoietic protoporphyria previously undocumented in the region. Treatment involved a tailored regimen of beta-carotene and lifestyle modifications, with the patient's family receiving genetic counseling about the autosomal recessive inheritance pattern.

A 45-year-old successful tech entrepreneur from Baku sought consultation for recurrent miscarriages with multiple partners. Whole-exome sequencing identified a balanced chromosomal translocation (46,XY,t(11;22)(q23;q11)) previously undetected. Dr. Aliyeva Javit coordinated with reproductive specialists to recommend preimplantation genetic diagnosis, resulting in the patient's first successful pregnancy after three attempts.

A 7-year-old refugee child from a conflict zone presented with developmental delay and unusual facial features. Chromosomal microarray analysis revealed a rare 16p11.2 microduplication syndrome. Dr. Aliyeva Javit organized a multidisciplinary team including speech therapists and educational specialists, while navigating complex ethical considerations regarding genetic testing in displaced populations.

A 62-year-old retired fisherman from the Caspian coast had a family history of early-onset dementia. Genetic testing confirmed hereditary cerebral amyloid angiopathy due to a pathogenic variant in the APP gene. Dr. Aliyeva Javit implemented a surveillance protocol for cerebral microbleeds and facilitated predictive testing for three adult children, each making different disclosure decisions.