What in the world is IPEX Syndrome?


That was our first question too! 

IPEX is a rare genetic auto-immune disorder. So rare that most doctors know little about it. Medically speaking; IPEX is caused by a mutation of the FOXP3 gene and remains genetically specific to boys. With so little information out on this disease a quick google search usually returns statements like:

-      There is no known cure for IPEX.

-      There have been less than 200 diagnosed cases of IPEX worldwide

-      Most children die within the 1st or 2nd year of life

Recently however, Bone Marrow Transplants have prolonged survival!

For Alex, the disease means his regulatory T-cells malfunction when his immune system is triggered to fight an infection. They don’t stop working when they should, but continue their attack, destroying healthy tissue and organs.

It also means Type1 Diabetes which Alex developed at 2 years old, typically common in children suffering with IPEX. He has endured diabetic complications as well as deterioration of his joints, muscles, and digestive tract.

Numerous other conditions are also the by-product of these challenging 8 years. Issues like pneumonia, intestinal problems, liver damage, skin rashes, and numerous hospitalizations for unidentified viruses and diagnostic testing have become all too common.

Because Alex has a rare geneotype of the disease and because so few children have survived IPEX, the few doctors who treat and research IPEX can't predict his future. Those of us who love him can only hope Alex will be the one little boy who survives this horrible disease, or that by some miracle he lives long enough for doctors and scientists to uncover field changing information and help in the research pursuits to find a cure for IPEX!