Hirschsprung's and Global Delays
Our grandson, Chase, was born 30 days
premature. He was diagnosed with Hirschsprungs Disease,
microcephaly, patent ductus arteriosus, and
pulmonic stenosis. He was in the NICU
for 25 days. At 5 days he had a colostomy and at 10 days a
PDA ligation. One week after he
came home, he had to go back in the hospital for
pyloric stenosis and have that corrected surgically. At 4 months old he
had pull through surgery to close the ostomy and reconnect his colon. As he grew
it became obvious that he was not progressing normally. We got him involved with
early intervention programs, physical, occupational and speech therapy. We were
given several different diagnosis's including Angelman and Shaw
Waardenburg syndromes, but none seemed to him fit completely. Finally his
pediatrician suggested we take him to Cedars-Sinai Hospital for genetic testing.
The head of the genetics department was convinced that Chase had a rare and
relatively unknown syndrome call Mowat-Wilson. That diagnosis has since been
confirmed through DNA testing. I'm posting this webpage in hopes of making
people that have children diagnosed with Hirschsprungs Disease and are
developmentally delayed aware of this syndrome.
For more information please visit our Mowat-Wilson.org website by clicking on the link.