Julian

Julian is a determined 3 1/2-year-old boy that has battled many obstacles in the past few years. At 2 years old, after many months of searching for answers, Julian was diagnosed with HPRT1 enzyme deficiency. This deficiency, associated with Lesch-Nyhan syndrome, causes an array of issues. Julian has a motor and speech disorder, sensory processing disorder, and a uric acid buildup that can cause kidney disease. Julian has been working hard in very intensive and grueling physical therapy with the NAPA Center. This is helping him gain strength and motor skills that will hopefully one day lead to independence. Julian is extremely motivated by friends and is eager to be up and moving around with them one day. His laugh is contagious, and he is a very fast learner. He enjoys books, fast cars, airplanes, and music. Julian loves his family and his schedule and routine! His determination is truly inspirational.
~Danielle, Julian’s Mom

Lesch-Nyhan Syndrome

Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. Excess uric acid can be released from the blood and build up under the skin and cause gouty arthritis. Uric acid accumulation can also cause kidney and bladder stones. The nervous system and behavioral disturbances experienced by people with Lesch-Nyhan syndrome include abnormal involuntary muscle movements, such as tensing of various muscles, jerking movements, and flailing of the limbs. People with Lesch-Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Self-injury is the most common and distinctive behavioral problem in individuals with Lesch-Nyhan syndrome.

Artist: Kimberly Cusack