Next, Tristan’s parents took him to a gastrointestinal doctor who was also unable to diagnose him. Several months later, Tristan underwent a liver biopsy that revealed that he had stage 2 scarring on his liver. This allowed his doctors to narrow down the possible causes for Tristan’s liver damage, but they still could not provide the family with a specific diagnosis.
Eventually, a genetic doctor was able to diagnose Tristan with LAL-D, a genetic and progressive ultra-rare metabolic disease associated with multi-organ damage in infant, pediatric and adult patients and premature death in infants.1 His parents described feeling a whirlwind of emotions and fear after learning their son had such a rare and serious disease.2 Learning that there was a clinical trial for LAL-D helped them cope with the situation. Tristan was enrolled in a trial for an investigational medicine. He continues to receive treatment today.
Holly says that today life with Tristan is starting to feel more routine. “He’s a typical 9-year-old kid who just wants to run and play; and he really doesn’t let this disease hold him back.”