Leslie with Pseudohypoparathyroidism Type 1B Reaches out Fellow Patients, Researchers
September 3, 2014
My name is Leslie and I am 34-years-old with a rare genetic disorder called Pseudohypoparathyroidism Type 1b. This was proven by genetic testing at the Cleveland Clinic, but completed at a Johns Hopkins lab. I was diagnosed with it at age ten along with hypocalemia, but just recently had genetic testing at age 34 to confirm it because my symptoms have progressed. I don’t have any physical abnormalities visible to the eye. To a stranger I look fine, but I’m anything but..
I was also just diagnosed with Addison’s Disease in May of 2014.
I was misdiagnosed with Lyme Disease, underwent heavy duty antibiotic treatment and followed a strict clean diet only to realize I didn’t have it. I have seen almost every kind of doctor you could think of, underwent extensive testing and brain MRI’s, full body scans, etc. I do not know what PHP 1b can do and I cannot find much as far as cases reported similar to mine. I’ve been struggling with depression and PTSD all of my life. I’m worried about the future and what all this will do to me. I have TMJ that seems autoimmune, thyroid issues, and I’m living in the US.
Do you have Pseudohypoparathyroidism Type 1B or have any research or information on this disease? Leslie has asked to be contacted be researchers and fellow patients at [email protected] and through her blog here.
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