By stephanie, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, United States, February 1, 2019
On April 25, 2012 my husband and I welcomed our first child into the world. The doctors said he was healthy and we went home within the two days. Instantly we started to notice things were not right. He could not hold his tempature and would turn blue while he was drinking his bottles. He would sleep all day and we had to force him awake to eat.
We brought him to the doctor almost daily where they noticed he was losing weight but said they would watch him and the rest wasnt of a concern and would send us home. We knew something was right but thought it was just us being new parents and worrying to much. The gut feeling of something being wrong kept getting worse. So, we brought him to the childrens hospital at a day shy of a month old. They circled around him instantly and declared something terribly wrong. That was when our journey began. He had apnea, pneumonia from poor suck causing aspiration. They also noticed he has hypotonia and his temp was dangerously low. They sent us to mayo clinic where they started to run test and get him healthy. We went home four weeks later on oxygen and no diagnosis with a list of therapies and oxygen. He was oxygen until he was a year old. He has been in occupational therapy, speech therapy, and physical therapy since. We continued to get him tested. So many test he had to endure including being put under several times for them. We were seeing new specialist constantly and when nothing came back we fought for the WES test. The Wes test is what gave us our diagnosis at 5 years old of PURA syndrome. It is a nerodevelopmental disorder. He was number 180 in the world to be diagnosed. The number is now around 300. Our boy is the only one with his mutation and researchers are working hard to understand it more and more. At this moment the list of symptoms he has associate with PURA syndrome is hypotonia, global delays, nystagums, sensory processing disorder and he is non-verbal.Very common with PURA syndrome is seizures which tend to be med resistent. He does not have but does have sparking in the brain. However, he is determined. He has never let any of that define him. He started walking independently at four years old and refuses to sit ever. He is the sweetest boy always giving kisses and hugs. He signs, uses a tablet and is excelling in school. He is what we say PURA perfect.
Paul has a page on facebook Paulstrong that we update his progress.