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Jakob Jasin was born with maple syrup urine disease (MSUD), a metabolic disease that causes amino acids to accumulate in the body, creating a toxic effect that can lead to brain swelling, neurological damage and death. The disease derives its name from the sweet smell of the urine.
Jakob, son of Chris and Susan Jasin, became lethargic and dehydrated when he was 6 days old. He was diagnosed with MSUD five days later at a Florida hospital. Doctors were able to give Jakob a medical formula to rehydrate him and halt the metabolic crisis threatening his brain.
Over the next four years, the Jasins learned to control Jakob’s metabolism by giving him an extremely regimented diet free of protein with amino acids. Jakob’s staple was potatoes, which he enjoyed with ketchup. He was not able to eat meat, dairy or poultry products. Unlike most kids, Jakob never ate traditional birthday cake or knew what chocolate tasted like.
Despite the family’s strict adherence to this MSUD diet, Jakob continued to suffer approximately three metabolic crises a year. These crises occurred when amino acids accumulated in his blood and led to brain swelling. Even something as simple as a cold or the flu could affect his amino acid levels and send his metabolism into crisis. Jakob does not appear to have suffered any permanent neurological damage, according to his mother.
“We could not continue to live in constant fear that a minor infection or a simple cold could kill our son. Even though we were doing everything we were supposed to, he was still getting sick and we were afraid we would lose Jakob,” Susan Jasin said.
The Jasins consulted with several metabolic and transplant experts and were led to Children’s Hospital of Pittsburgh of UPMC, where transplant experts agreed to list Jakob for a liver transplant.
After establishing a protocol that would ensure Jakob’s safety even if complications occurred, Children’s surgeons transplanted a new liver into Jakob (who was 4 years old) on May 30, 2004. He was discharged from the hospital 11 days later and his amino acid levels have remained normal, indicating his metabolism is balanced and he is not in danger of going into crisis.
He was able to eat ice cream for the first time and had his very first piece of birthday cake at the age of 4.
Read about other children who have had successful liver transplants at Children's Hospital of Pittsburgh of UPMC.
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