Tyrosinemia is a hereditary disease that causes a disruption in the body’s ability to break down tyrosine, an amino acid.
The liver lacks the correct enzyme and, as a result, it turns tyrosine into a poison. It can result in kidney failure, and other serious complications.
Children who are born with tyrosinemia must get treatment.
These infants can’t digest protein, so they are prone to vomiting and diarrhea. They also don’t grow at the expected rate, they may have frequent nosebleeds, and are underweight.These children require a special diet, to which they must adhere throughout their lives.
In the past, the only treatment to be considered successful was receiving a transplanted liver.
Today, however, there is enzyme replacement therapy available, but it’s costly.
The Network of Tyrosinemia Advocates (NOTA) works with various organizations around the world to provide resources to tyrosinemia patients who otherwise would not be able to have access to the special low-protein diet, medications, and information they need to manage the condition.
Many of the companies that manufacture low-protein foods will not ship their products to other countries. That’s where NOTA comes in.
They are comprised of a network of people who are living with, or caring for someone who has tyrosinemia. They pool their resources and, at their own expense, ship food and supplies to those in need.
President and founder, Jon Miller, has a personal stake in the matter. His son was born with tyrosinemia.
At the time of his birth, he was not tested for the disease and as a result, has suffered life-long problems. However, as a newborn, he was given 48-hours to live while doctors tried to figure out what was wrong.
Miller’s son was transferred to a children’s hospital, and there he was correctly diagnosed. Caring for his son made Miller realize how important access to the right foods and supplies are to the tyrosinema community, as a whole.
