New Diagnosis MNGIE

Hi, I was recently diagnosed with MNGIE.  It took me doing all the research and finally seeing a geneticist.  This is years after I first started showing symptoms.  This site was the most help.

Gina Alexandra's picture

Gina Alexandra

11/20/2011

Hi, I'm so glad you finally got a diagnosis. I have many of the symptoms of MNGIE, but I don't have the drooping eyelids. I have never had that...at least not yet. I was diagnosed with G.I. dysmotility at age 15, but no one could ever explain why. I was told it was probably caused from "a rare, inborn error of metabolism," but they weren't certain which one. I also have ataxia, peripheral neuropathy, myoclonic jerks, occasional petit mal seizures (they were more frequent when I was a child), proximal muscle weakness, and autonomic dysfunction that has never been explained. I'm in a wheelchair and am getting worse. I was referred to a local neurologist so that I can have a muscle biopsy. I'm too sick to travel to a major medical university, and I don't have the money. But a mito specialist who is about three hours away from where I live is going to review my records and try to work with my doctor at getting me diagnosed. I desperately need answers because I've been a medical mystery since age 15. If I don't have MNGIE, I am wondering if perhaps I could have one of the other mitochondrial disorders that cause G.I. dysmotility, autonomic dysfunction, and the other symptoms I mentioned. I wish you the best!
justdncn's picture

justdncn

11/20/2012

I was diagnosed with MNGIE after years of suffering. I had many unexplained symptoms, mainly GI dysmotility. Recently I have been feeling better. I have more energy and am hoping to introduce some new foods shortly. I have tried IVIG therapy and stem cell therapy. I live in San Diego. I would love to talk to you about my experience and offer you hope.

anthony jaecques's picture

anthony jaecques

01/23/2014

Was reading all info I could get and noticed that you are a MNGIE patient, my wife has been diagnosed with this and I am searching for all info I can get on treatments and what to expect from this disease, both short term and long term.

My prayers go out to you also