Benefit Planned For Acadiana Girl Battling Genetic Condition
We have a ton of people come in and out of the KPEL studio doors, but this little girl was different. Little Amelie is battling CFC or Cardiofaciocutaneous. It took several doctors 11 months to figure out why little Amelie was not gaining weight and developing as she should have. (Still at 4 years old, she has the stature of a 2 year old.) Finally, a doctor in New Orleans made the diagnosis and her family has been helping her ever since. Unfortunately, insurance does not cover much of the crucial therapy she receives every week. That's where you can help.
Less than 500 people in the entire world have been diagnosed with CFC and nine of those are from right here in Louisiana. The genetic disorder can sometimes be hard to pinpoint. RareDiseases.org gives this description.
Cardiofaciocutaneous (CFC) syndrome is one of the RASopathies and is a rare genetic disorder is typically characterized by unusually sparse, brittle, curly hair; large head (macrocephaly); a prominent forehead and abnormal narrowing of the sides of the forehead (bi-temporal narrowing); intellectual disability; failure to thrive; heart defects that are present at birth (congenital); short stature and skin abnormalities.
You may expect a 4-year-old who has spent her whole life in hospitals and doctors offices to be down or quiet. But Amelie is very different. She uses sign language to communicate and laughs and plays as any other child her age.
You can give back to the CFC International cause and Amelie's Army at a grand opening car show at the new Motor City location on University. Details can be found on the Motor City facebook page.