A few years ago, when I was initially seeing my mast cell specialist, she mentioned a physician at the NIH who was doing a study on patients “like me”. He was doing research on families who were diagnosed with Ehlers-Danlos Syndrome (EDS), had mast cell disorders of some sort and symptoms of Dysautonomia, a malfunction of the autonomic nervous system. She encouraged me to contact him to join the study.
Dr. Joshua Milner spent quite a while on the phone with me, inquiring about other family members as well. He was satisfied that we fit the criteria. I received kits for blood work and packets of paperwork to be filled out and returned. He was interested in studying families who had the same symptoms in multiple family members. Our family sure fit that description. He also stated that there was almost always at least one family member much sicker that the rest… and yes, that was me.
Fast forward about three years and only a couple of sporadic emails between us. I received a call from Dr. Milner advising me that he had found a mutation.
This duplicate tryptase mutation was the culprit causing me to be so sick. Initially, he told me he thought it was causing the mast cell symptoms, plus EDS and the Dysautonomia symptoms too.
But here is where it got a little complicated. I am the only member of my family with the mutation. Yet all the others have EDS. They were diagnosed by geneticists experienced in connective tissue disorders and some (my adult kids) have been diagnosed by 3 separate geneticists over the years.
So now, we are back to square one with the tryptase mutation. It is definitely causing many symptoms, especially mast cell, but EDS may be a totally separate mutation. Dr. Milner now thinks I may be dealing with two mutations; one that my entire family has too, plus the duplicate tryptase mutation.
I met this news with excitement! Identifying the exact mutation opens up avenues for researching ways to block the activity of the tryptase. This is Dr. Milner next endeavor and I await with enthusiasm.
My upcoming blog posts will be a comprehensive, detailed explanation of some protocols that I will be following. I met an amazing woman, Christina Maldonado, at the TMS conference who also has the gene mutation. She followed these protocols and has changed her life. She has discussed them with Dr. Milner as I have, so I am moving forward. Stay tuned…