#LivyStrong - Olivia DiStefano

Olivia is currently hospitalized at Children's Hospital of Philadelphia. She became very ill at 7 weeks old. For over a month, the doctors have been trying to diagnose her illness. She has been through relentless tests and procedures including a bone marrow biopsy, muscle biopsy, endoscopies and colonoscopies, just to name a few.  She was recently discovered to have a rare gene mutation, called NLRC-4. This mutation causes an Autoinflammatory Syndrome that leads to very high and recurring fevers, severe gastrointestinal issues including vomiting and diarrhea, poor weight gain and "failure to thrive"- all of which Olivia is currently suffering from. Due to the severe damage that has occurred to her stomach and intestines, she cannot have any nutrition through her stomach and is dependent on nutrition through her veins.

The mutation was only discovered about a year ago and she is the 5th known case in the world and the first case seen at CHOP. She is currently being treated with medications that are shutting down her immune system, making her at great risk for infection. Because this mutation is so new, there is no defined treatment plan and no time line for a recovery.

While her parents, Jill and Gus, are focusing on Olivia’s health their friends want to help ease the burden of medical costs and loss of income. Jill has been unable to return to work and it is unknown how long Olivia will need to be hospitalized.  Jill and Gus have been taking turns "living" at Olivia's bedside 24/7, while also caring for Olivia's 4 year old brother, Auggie.

As the medical team at CHOP tries their best to help Olivia recover, the unknown is extremely stressful and scary for her parents.

Any help that those can give will be greatly appreciated.
NLRC-4 mutation information