Meet Otto. Otto is 2 years old and has citrullinemia type 1. He is British but was born in Thailand, where his mums work.
Today, Otto is a fun-loving little boy, a dinosaur expert, and loves running around trying to keep up with his big sister. He is meeting all of his milestones, and that is largely thanks to being born in Thailand, where his condition was identified through a newborn screening test.
Because of this early diagnosis, we have been able to carefully manage his ammonia levels through diet and medication from just a few days old, preventing a metabolic crisis.
We feel incredibly lucky, and we hope that one day screening for citrullinemia will be available for all newborns.
