- CASE FILE
My four year old daughter has a rare genetic condition called SAVI (STING-Associated Vasculopathy with onset in Infancy) and we need a cure!
ABOUT THIS CASE FILE
My daughter has Dysphagia, Laryngomalacia, Immune Deficient Cryptogenic Organizing Pneumonia Interstitial Lung Disease, Arthritis (unknown type), Failure to Thrive, Anemia, a recurrent Diaper rash, a skin rash that can cause necrosis of the limbs, etc. She requires full time oxygen, a feeding tube, a port, several medications, monthly infusions, and has a bad immune system. She has a mutation of the TMEM 173 gene and NLRC4 gene. She was diagnosed with STING-Associated Vasculopathy with onset in Infancy (SAVI), and there are only a few children worldwide diagnosed with SAVI. Our goal is to raise awareness and hopefully find a cure! Please help us!