World Rare Disease Day

Updated: May 15


The last day of February is recognized as World Rare Disease Day. Our family became part of this population almost two decades ago when Peter was born prematurely with multiple birth defects. His congenital anomalies resulted in a diagnosis of Oculo-Auriculo-Vertebral Spectrum (OAVS), also known as Goldenhar Syndrome and Hemifacial Microsomia. The diagnosis typically depends on what defects are involved.


Peter's congenital birth defects included a cleft palate, left microtia/atresia (missing ear and canal), c-spine abnormalities and hemi-vertebrae, jaw malformations, single-pelvic kidney, bi-cuspid heart valve, dermoid cysts in both eyes, and a hypo-plastic left thumb. He's had 35 surgeries in 19 years to improve his vision, hearing, airway, and ability to safely swallow.

The cause of OAVS remains a mystery, and there are no reliable statistics for it's frequency. National Organization for Rare Disorders (NORD), estimates it occurs anywhere from 1 in 3,000 live births to upwards of 1 in 40,000. They report that OAVS may be caused by the interaction of many genes, possibly in combination with environmental factors (multifactorial inheritance).


Like many rare disorders, there is unreliable information and very little research being done. This is why it's important to raise awareness and hope for those living with a rare condition. Finding a cure for one disease or identifying the cause of a syndrome increases the likelihood of preventing and treating others.


Peter in 2015 (15 years old) before his second jaw reconstruction and in 2020 after his laryngo-tracheal (airway) reconstruction (19 years old).


Read Dede's journal from Peter's 102 Days in the NICU

Read about Peter's 2nd jaw surgery

Learn about our Rare Disease Partners


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Peter's Jaw Reconstruction Surgery

Our Journey as a Medically-Complex Family

Pete's NICU Diary

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