Baby Diagnosed with Rare ‘Self-Harm Syndrome’ Days After Birth
A baby named Joseph Paul was diagnosed with Lesch-Nyhan Syndrome (LNS), a rare condition affecting about one in 380,000 live births. Joseph’s parents, Joe and Breanne Fusco, noticed something was wrong just days after his birth. Despite a straightforward pregnancy and birth, Joseph struggled to feed and gain weight, leading to a seizure and a diagnosis of kidney damage. After genetic testing, little Joseph was diagnosed with LNS, a disorder causing kidney stones, muscle control issues, and an irresistible urge to self-harm.
- Parents: Joe and Breanne Fusco
- Condition: Lesch-Nyhan Syndrome (LNS)
- Rarity: Affects one in 380,000 live births
Joe, a 33-year-old special education teacher, expressed the heartbreak and fear the family felt upon learning about Joseph’s condition. The diagnosis altered their expectations of parenthood, introducing confusion, sadness, and anger. They were particularly concerned about the challenges Joseph would face, including mobility issues and self-injurious behavior. The first sign of trouble was Joseph’s difficulty in feeding and gaining weight, ultimately leading to their hospital stay.
Challenges and Triumphs
Despite the hurdles, Joe and Breanne remain hopeful for Joseph’s future. While LNS outcomes vary, they are optimistic about managing Joseph’s condition effectively. Joseph, now four years old, has made progress in communication and kidney health. Although he faces mobility challenges and ongoing medical appointments, his family supports him wholeheartedly.
“We’re incredibly grateful to have him in our lives, challenges and all.”
Joseph’s story highlights the resilience and joy he brings despite his diagnosis. His parents emphasize that he is more than his condition, showcasing his determination, happiness, and everyday accomplishments. Their journey with Joseph has taught them resilience, love, and the importance of support from family and friends. Amidst the hardships, they find strength in their son’s courage and positivity.