Condition: Phelan-McDermid 22q13 Deletion Syndrome
City, State: OR
Club: Miller Elementary Sparrow Club Service Hours: 712
Date Adopted: 6/09/2010
Ellie's Story:(8.3.10) Ellie is a beautiful little girl of 5 years old. She is looking forward to starting her kindergarten year in school at Miller Elementary here in Bend. But Ellie needs your help. Ellie was born March 12, 2005 and 3 1/2 weeks early. When she was born, she didn't have any sucking reflexes and had to be fed through a tube. This continued for several weeks. Many tests were done but the doctors couldn't find anything. Then the family began to notice that Ellie wasn't meeting her milestones. At 4 months old, she wasn't able to hold her head up so they began physical therapy. Though the therapy seemed to help, Ellie wasn't meeting other milestones along the way either. Blood tests were done and the decision was made to send the family to Doernbecher Children's Hospital in Portland for further tests. When the family reached Portland, Ellie underwent genetic testing. The results showed that something was wrong with Chromosome 22. After testing was complete, the diagnosis of Phelan-McDermid Syndrome or 22q13 Deletion Syndrome was given. Ellie had a very rare illness that strikes as few as 500 worldwide. With this being the first diagnosis of its kind at Doernbecher, the family had no resources available to them. Eventually, Ellie's parents were able to attend a conference that gave them the information they needed to help Ellie. Ellie is growing and learning every day. She receives physical, speech, and occupational therapy on a regular basis to provide early intervention for the problems that she may develop. Ellie is unable to speak right now, though her parents are hopeful that she will be able to in the future. Sparrow Cash raised for Ellie and her family will go to pay for a communication device that will help Ellie to interact and communicate with her family and her peers as she enters her first year of school.