- CASE FILE
Cushings, cardiac myxoma’s, atrial septal defect, Anderson twanii syndrome, Carney’s Complex.
ABOUT THIS CASE FILE
Carney Complex is a genetic disease that according to the NIH currently effects 750 people, I was not part of that statistic for 2 years and 3 open heart surgeries. In my late teen’s I presented with symptoms of a condition called Cushing’s syndrome where my body was over producing cortisol. When I hit puberty I gained probably 30lbs in 2 months, at first i thought it was because I was depressed and I'm sure that had something to do with it but more so now I know it was the Cushing's. I was maybe 80lbs in 7th and 8th grade, the summer between 8th and 9th I jumped up to easily 115lbs. For a teen that is a large jump especially when I had always been so petite. However, because my mom had it and there was no evidence that it was genetic it took almost 5 years of meeting with doctors consistently and an exploratory surgery to remove one of my adrenal glads to get a diagnosis at 24. During the time of this condition, I gained 40lbs in a period of 2 months after I got engaged and started on birth control. Already having struggled with an eating disorder this wreaked havoc on my emotional state. My body changed in what felt overnight, I got stretch marks on my side and my breasts. I was 24 and this shouldn't have been happening. Fast forward about 2 and half years to March 2016, I had my first cardiac myxoma(tumor within my heart). The first tumor nearly killed me it was 5cm x 5cm in my left atrium, I coded on the operating table for 12 minutes due to the tumor moving and blocking my entire mitral valve and cutting off all of my bodies blood supply. Luckily the doctors were fast acting and able to save my life. In September 2017 I went in for a routine echo cardiogram to monitor my heart in case another tumor grew, and that check up there was a new tumor. When they found it it was approx. 1cm x 1cm in my left atrium again. Surgery was scheduled for 2 weeks. That was the longest 2 weeks of my life. I took the semester off of school because I wouldn’t be able to drive for 6 weeks after surgery. I was terrified of going in a second time after coding the first but the second surgery went very well. Recover was well and I was able to start school back up in January. A few days before going to the ER I started having stroke symptoms, mainly numbness on the left side and vision changes.On the 22nd of February we decided after getting medical advise to go the ER. At the ER I was Diagnoses with a stroke and mini strokes as well as another cardiac tumor in my left ventricle. Needless to say I was admitted into the hospital because of the risk for stroke the tumor was believed to be causing. While in the hospital we believe I had several mini strokes or TIA's. A week after being admitted I had my 3rd open heart surgery on March 2nd which was successful and again recovery has gone smoothly. Ion July 22 this year(2019) I was diagnosed with another cardiac myxoma. This time the doctors here weren’t confident in doing surgery and we went to Houston Texas for an Auto transplant. Basic just is my two upper atriums were removed and reconstructed with bovine pericardium and this surgery has been harder to bounce bac from. There were some minor complications from surgery and my heart is still trying to figure the new it out. I also have a nerve sheet here tumor off one of the nerve roots along my spine. It is one thing to have a diagnosis but there is nothing doctors know of to stop these tumors from growing or to slow them down. We are running out of options. I’m told that the kenase this gene is part of was the first known but the only one with out a medication to inhibit or block its functions.