Tyler: Growing Stronger by Leaps and Bounds

Tyler was born six weeks early and was treated at home for jaundice (yellowing of the skin and whites of the eyes due to excessive bilirubin levels). As Tyler began to grow, his parents, Liz and George, noticed that he was "not doing what the other babies were doing. In fact he could not hold up his head when he was 9 months old." Numerous tests and 10 different doctors found nothing wrong. Tyler’s symptoms continued to worsen. He would tire easily and have unusual eye movements. As Liz describes, "he would become stressed and then his eyes would roll back up into his head as if they were stuck." At 2, Tyler could not hold his head up, sit unassisted, or feed himself. Yet he seemed to understand everything said to him.

Tyler’s dad appeared on Good Morning America while he was running a 3,000-mile race as a fund-raiser for Tyler. Jillian‘s family was watching the news that morning and suspected Tyler might have ALADD. They immediately contacted Tyler’s parents. They referred them to Katherine Swoboda, MD, at Primary Children’s Medical Center, Salt Lake City, Utah. Dr. Swoboda is a neurologist, clinical geneticist, and an expert on PNDs. Tyler’s spinal tap was immediately sent to Keith Hyland’s laboratory and a diagnosis of tyrosine hydroxylase deficiency was made.

Tyler was started on L-dopa treatment and made progress in leaps and bounds. Tyler can now walk, feed himself, and interact socially with others. Tyler’s parents are Board members of the PND Association.