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Genetic disorder creates complications for child

By angieh@newstribune.com
angieh@newstribune.com

Published: Tuesday, August 25, 2009 3:32 PM CDT

When she was just seven months old, Grace DeGraffenreid, now 2, was given a diagnosis that changed the course of her life -- forever.

"We are so lucky the kids went and pushed the doctors until they did get a diagnosis," said Grace's grandmother, Sherry DeGraffenreid.

When she was only six weeks old, Grace's parents, Kevin and Danielle, noticed a problem in her development. For four months, the young couple struggled to get a diagnosis.

"All they had to do was genetic testing," DeGraffenreid said. "They did every kind of test you can think of."

Testing was complicated by the fact that Grace was not presenting symptoms like most Spinal Muscle Atrophy (SMA) patients.

"Generally, SMA patients do not improve their movements and their ability to do things," Danielle said. "Grace did, however, and that is why the doctors tested for other disorders."

Danielle and Kevin were told to take home their infant daughter and enjoy the time they had with her. There was nothing that could be done.

To view the entire article, please go to our e-edition/">e-edition.


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