Biopsy Results

Last week I finally received a call from Dr. Medne at Children's Hospital in Philadelphia. She had the results from Kai's skin biopsy that was taken a year ago. Unfortunately we are right back where we started three years ago. The test results came back normal. She told me that they have about twenty kids like Kai, who clinically present with either Ullrichs or Bethlem yet their biopsies come back normal. They think where there are so many that there may be a third gene that mutates instead of just two as they originally thought. I am still confused as to what this means so thank goodness we have appointment scheduled with Dr. Bonnemann in January. So we will just continue to take it one day at a time. Until next time.