Jackie’s Odyssey
Cyclical Cushing’s in a newborn is practically unheard of!
Thus began our journey through the labyrinth of medical professionals, hospitals etc trying to diagnose my newborn in 1999.
Sam was premature but also had very high blood pressure and strange puffy features. Doctors zeroed in on the kidneys and put he on high blood pressue medicine. Her symptoms resolved. Over the course of 2 years we saw countless doctors regarding Sams rapid weight gains and then losses.
Finally, an ER doctor did a 24 hour urine test that came back incredibley high. She was 2 1/2. That hospital also advised me that they were investigating me for Munchausen by proxy. I had one doctor that believved Sam was sick. Dr. Dan Gunther. He went to bat for me and sent me to Dr. Stratakis at NIH who first brought up Carney Complex. A multigene panel for the genes PRKAR1A (the main Gene for CNC) and GNAS1 (McCune-Albright syndrome) was preformed. However Sam was negative for the either genes.
After a year of testing as well as flying back and forth across the country Sam had her adrenal glands removed. Her 16 year old sister, who also tested positive for Cushing’s had her adrenal glands out shortly thereafter; pathology later revealed that no disease was found in the glands. This was a blow to our family. While Sam was virtually saved by surgery – she was diagnosed with Carney Complex without mutation on the PRKAR1A Gene. Jordan my eldest was simply left with no adrenal glands. Their protocol for testing forward was EKG yearly, ultrasound, and MRI seeking tumor activity. To this date none have been found.
Have time? Jackie was given the opportunity to participate in a television series called ‘Mystery Diagnosis’ where she talks about how difficult it was and finally finding a doctor that was able to help.