If you lost a child to a rare disease and knew there was a 1 in 4 chance that it could happen again, would you try for more children?
That was exactly the question faced by Faye Azer after her daughter Jeanette died from complications of hereditary tyrosinemia type 1 when she was only nine weeks old.
Tyrosinemia is an inherited disorder that prevents the body from processing or breaking down amino acids found in common foods. Type 1 is the most acute form of the disease and it occurs during infancy. Children with tyrosinemia type 1 experience gastrointestinal problems, including severe diarrhea and the inability to hold down food. They may become jaundiced, experience kidney dysfunction, and exhibit changes in behavior or mood.
At six weeks old, Jeanette Azer had a bloated stomach, her vomit contained blood, and she was severely jaundiced. The last three weeks of her life were spent in the hospital, searching for a diagnosis that only came with the autopsy.
After Jeanette passed, Faye said she didn’t want to have more children but her husband, Youssef, felt differently. After much back and forth, she gave birth to a boy, Jonathan, two years later.
Early on, Faye noticed symptoms in Jonathan similar to what Jeanette had experienced. “I thought, ‘This is only going to end badly,'” she recalls. Fortunately, in the time between her daughter’s passing and her son’s birth, a treatment had been developed–Orfadin. Jonathan was inducted into the clinical trials and has shown positive results ever since. He is now 13 years old and relies on 12 pills a day to keep his condition in check.
Recently a liquid form of Orfadin was approved for use in infants and small children who may have difficulty taking the medication, which was originally manufactured in capsule form.
