Finn George Tomos Cross was born on 26th September 2020 following an uncomplicated pregnancy and subsequent birth. Less than 48 hours later, Jen and Tom found themselves rushing to A&E with Finn following some concerning symptoms. Finn spent a week in the care of Great Ormond Street, and recieved a diagnosis of OTC deficiency, a rare metabolic disorder. 

Despite the best medical treatment, and not before making the greatest impact on the lives of all who loved and cared for him, Finn passed away on 5th October 2020. Only 9 days after he was born. 

Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder characterized by complete or partial lack of the enzyme ornithine transcarbamylase (OTC). OTC is one of six enzymes that play a role in the break down and removal of nitrogen the body, a process known as the urea cycle. The lack of the OTC enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Excess ammonia, which is a neurotoxin, travels to the central nervous system through the blood, resulting in the symptoms and physical findings associated with OTC deficiency.

Metabolic Support UK can provide practical advice and patient-friendly information to patients and their families from diagnosis and beyond. They help to navigate through complex pathways of support and treatment, as well as offering support in times of difficulty. 

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