CanPKU+ believes that creating awareness around Ornithine Transcarbamylase Deficiency (OTC) and other rare diseases helps patients…Because Knowledge Leads to Better Health.

When people are aware of a condition, they are more likely to be understanding and supportive.  This might be as simple as ensuring that there are appropriate food choices at the next party your child attends, or it might mean that a politician will fight on your behalf for coverage of treatments.

Meet Kate Vinokurov, MES, BASc.

Kate is the mother of a beautiful 1-year old boy, Etan Isaiah who was diagnosed with Early Onset OTC Deficiency (OTCD). Unfortunately, this condition is not included in the newborn screening testing in Ontario. Babies with this condition can get extremely sick and without proper care they are at risk for death. A few days after birth, Etan suddenly became unwell. Etan’s health began to decline rapidly after an initial misdiagnosis by the ER paediatrician. After 12 hours in the ER, he was finally transferred to the NICU at SickKids Hospital where he received proper care. 

The heavy news of her son’s diagnosis set Kate on a courageous journey to find a cure for OTCD. In May of this year, Kate launched a fundraiser to #SaveEtan with the goal of advancing research in this area. OTCD is a rare life-threatening, genetic condition. Kate is the founder of “CureOTCD,” a non-profit organization dedicated to advocacy and research efforts with the vision that all babies will have a chance to live a healthy life, free from suffering and metabolic crises. Over the last few months, Kate raised more than $22,000 in donations and has formed a Scientific Advisory Board with two seasoned researchers in the field, Dr. Hiroki Morizono and Dr. Ljuba Caldovic from Children National Hospital. 

General Information and Links

NORD - Rare Disease overview of Ornithine Transcarbamylase Deficiency

https://www.youtube.com/watch?v=mKAZPIMuQj4

Infancy

Eating Well