Dziecko z syndromem samookaleczania się

Story from Jam Press (Self Harm Syndrome) Pictured: Joseph Paul. Parents of baby with ‘self-harm’ syndrome share first warning sign that started days after birth The parents of a baby diagnosed with ‘self-harm’ syndrome have shared the relatively normal early warning sign that something was wrong – which appeared just days after the tot’s birth. Joe and Breanne Fusco were overjoyed to welcome their first child, Joseph Paul, into the world, following a straightforward pregnancy and caesarean birth. But on the day they were due to be discharged, four days after he was born, Joseph was struggling to feed and hadn’t gained enough weight, so was taken to the NICU for tube feeding. While under monitoring, he suffered a seizure the following day, and the family were transferred to Boston Children’s Hospital for genetic testing. There, they found little Joseph had kidney damage before the results of the tests came back a month later, and he was diagnosed with Lesch-Nyhan Syndrome (LNS). The rare, inherited disorder affects about one in 380,000 live births, and children with the disease get kidney stones, can't control their muscles and develop an "irresistible urge to try to hurt themselves". “We were heartbroken – it was one of the saddest, scariest days of our lives,” Joe, a 33-year-old high school special education teacher from Massachusetts, US, told NeedToKnow. "In an instant, our idea of what our family life would look like was altered – it changed our entire outlook on parenting. “There was so much confusion, fear, sadness and anger. “We had never heard of LNS. “The geneticist gave us a printed summary that included what it was and common symptoms. “The parts that stuck out to us the most were reading that most LNS patients don't walk and, of course, the self-injurious behaviour. “We worried about what Joseph's life was going to look like, how these symptoms would manifest with him, and even how long we'd have with ou