CHARITY

Charity was born seemingly healthy.  By six months of age, it was apparent she had a lot of trouble tolerating food, her weight gain stalled, and she was starting to get behind in her motor skills.  By Charity's first birthday, we knew something was very, very wrong and the quest for diagnosis began.  Eight years later, we still don't know with 100% certainty what is wrong with her.  We know she has a genetic brain disease called cerebral cavernous malformations.  We also know she has some sort of metabolic disease, however, despite extensive genetic testing with many doctors visits all over the country, we still don't know with certainty what it is other than "likely some sort of mitochondrial disease." 

 

The combination of these two genetic diseases has caused serious gastrointestinal problems (involving intravenous nutrition, feeding tubes, and ileostomy), hypoglycemia, seizures, immune system problems, vision problems, muscle problems (hypotonia and dystonia), motor delay, and some learning issues.  Charity has had 67 inpatient hospitalizations totaling about a year of her life...she's NINE years old.

 

Most who meet Charity would never realize how serious her health problems are.  She is a fun-loving happy girl who makes the most of any situation that comes her way.  That said, Charity still deserves a diagnosis.  A diagnosis means hope for a possible treatment in the future.  No confirmed diagnosis means no real help other than "managing symptoms."