Jacob was a year old when he started getting sick at daycare. Initial testing revealed the most common form of a rare disease: urea cycle disorder (UCD). “We dropped everything and called everywhere we could to find answers,” says Jacob’s father, Mike. A referral led to Children’s National Hospital, where Dr. Nick Ah Mew, a medical geneticist, spent an hour and a half on the phone discussing the family’s options.
UCD disrupts the body’s metabolism of food. This can cause toxic ammonia buildup and lasting brain damage. Jacob’s family, who live in Charlottesville, Va., transferred Jacob’s care to Children’s National. “We knew this would be the place for us to obtain top expertise and care. Nick explained all the ways science is breaking ground,” says Mike. “He assured us that kids like Jacob can go on to become amazing people.”
Care at Children’s National has kept Jacob healthy. He attends a Montessori school and loves to ride his bicycle. His care and management, including medication and guidance from a dietitian, has meant he’s only had one minor hyperammonemia crisis—the dangerous buildup of ammonia that can cause lasting cognitive damage.
On a family trip to Colorado, Jacob experienced an upset stomach that led to vomiting, a dangerous symptom for UCD patients. Doctors at Children’s National offered guidance over the phone. The next day, Jacob was well enough to hike a 12,000-foot mountain. “They encouraged us to get back out there and let him enjoy the trip,” says Mike. “The reason they could make that call was that they have invested so much time in getting to know him, what he loves, and how he responds to illness.”
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