See what questions a doctor would ask. The parents of an 18
month old girl suspected something was wrong when she failed
learn to roll, sit, walk and talk. She was eventually diagnosed
with Phelan-McDermid Syndrome. Sufferers may display
characteristics similar to cerebral palsy and autism. They may
also suffer additional medical problems such and seizures and
esophageal reflux. The mother eventually wrote a book called
“Stephanie's Story: Love Knows No Handicaps” which has been
described by doctors as a must read for anyone with disabled
children. Only 200 people worldwide are known to have the
condition Phelan-McDermid Syndrome (also known as 22q13 deletion
syndrome). It is a genetic condition of which there is believed
to be many undiagnosed cases of. Source: summary of medical news
story as reported by The Enterprise About: Only 200 people world
wide diagnosed with rare disorder Date: 24 December 2004 Source:
The Enterprise Author: Elaine Allegrini http:/ This summary
article refers to the following medic