Underdiagnosed disorder

Specialties Pediatric


I am an RN who almost lost my son to a "rare disorder." Many consider the disorder underdiagnosed rather than rare, and in order to keep other families from suffering as we have, we are trying to increase awareness about Urea Cycle Disorders. These usually present at birth, but it has been found that they can also be late-onset (this was the case with my son). The symptoms include seizures, confusion, and inability to tolerate protein. Abnormal labs include elevated serum ammonia (may not be a drastic elevation), and abnormal serum amino acids. For more information you can go to our website at www.2endure.com. UCD's are estimated to affect at least 1 in 25,000 births, and that number is increasing as diagnosis improves. Only about 200 are alive and being treated, so help us save a few kids by keeping on the lookout for these symptoms.


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