Nathan’s Odyssey
For me, my ‘Diagnoses Odyssey’ began in 2010/ 11 when I noticed a hard bump on my right testicle just under the skin. It was not causing any issues, but again a bump on a testicle is nothing to take lightly. I reached out to a local internal medicine doctor and he immediately ruled out cancer as it was hard and that is by far from typical for cancer. He referred me to a Urologist.
Meeting the first specialist
The Urologist I went to see immediately assumed a calcification of some sort, but he ordered an in-house CT Scan that for him confirmed it was a calcification. At the time he did not mention any other visible calcifications present. He said there was nothing to worry about and at this time it was not causing pain.
In 2012 I had moved and paid it no attention until it started hurting. It did not always hurt, so I dealt with it until one particular night when I had to drive 2 hours in pain. I ended up getting pulled over for speeding and the officer let me off as he could see how much pain I was in. He asked if I needed an escort to an ER even. I found a new Urologist and decided it was time to get this taken care of. They first did an ultrasound which is when they revealed to me that there were several calcifications in the right testicle. At the time I did not understand that they were in the left either. I guess my focus was make the pain stop. In July 2012 I had a partial, radical orchiectomy (removal of the right testicle). After this is when I finally understood they were in both.
The return of the pathology report was truly the first step into Carney Complex.
Large-cell calcifying Sertoli cell tumors (LCCSCT) was the diagnosis of the calcifications.
With that the pathologist listed both Carney Complex (CNC) and Peutz–Jeghers syndrome (PJS) as the two possible candidates for cause.
They recommended screening of Endo and Cardiac related tumors and issues.
I immediately started searching the internet for everything I could and comparing symptoms as best as I could. I started looking for freckles around my lips, which I have, and other areas. I noticed the typical skin color myxomas that I had on my eyelids that I kept having removed along with the one in my ear (which is a little rarer). I also remembered when I had one myxoma removed from under my eyelid the surgeon noted a freckle under it as well. Everything I read started pointing to CNC, so I started with an Endocrinologist.
Meeting the Endocrinologist
My first Endo was great. He admitted he was unfamiliar with CNC, but immediately did some quick reading while in office and ordered the battery of blood test and 24hr urine. They drew about 13-15 vials of blood, so he hit the ball running. My IGF-1 came back slightly elevated and still to this day continues to do so, but no signs of a pituitary tumor. I have hypothyroidism and low testosterone. They assume, because I have the LCCSCT in the left testicle that, that has impeded its ability to pickup the slack on testosterone production. Other than the elevated IGF-1 other afore mentioned, everything else appeared to be ok. He then referred me to a cardiologist for an echo which came back clean. This all occurred in 2012 and for the next several years this continued.
First time hearing of the NIH
We moved to Texas, USA in 2015 where I found a new Endo and we went through the whole ‘this is what CNC is’ and he ran all the blood work, etc. Well around late 2016 he made mention of maybe looking into a clinical trial, so I did. Summer of 2017 I went to the NIH for 10 days. While there they confirmed the initial, clinical diagnosis of CNC and diagnosed me with sub-clinical Cushings Syndrome (assumed cyclical), PPNAD as the cause for Cushings. They noticed I have osteochondromas along with a tumor in one of my lungs I believe it was. Also learned that I have a unique and rare reaction to MRIs where I can actually feel the pulses of certain sequences and because of this I have a hard time with cardiac MRIs as that is when we discovered it. About the second sequence in my face twitches and it feels like air is blowing directly on my face and I flinch which is not good for any MRI yet alone a Cardiac one. Needless to say I learned a lot about CNC from Dr. Stratakis and his team.
I have brought all this information home and waited for the DNA diagnosis which took some time to come. I actually had to reach out to Dr. Stratakis and his team. They informed me that I tested negative for PRKAR1A deletion, but he was certain it was on that gene and that they would run it again. I didn’t quite follow if that meant there was a margin of error with the first test, so they moved to a second form of test. He later reached back out and emailed me the official report.
After reconfirming the diagnosis
At this point it is a monitoring game and currently I am showing signs of active Cushing’s that I am working on investigating with my Endo along with wondering why my IGF-1 is always elevated, but nothing on MRI. So far no cardiac issues, but my mom has experienced a grape size myxoma that wouldn’t have been caught if it wasn’t for my new found knowledge. That and breast cancer forced an echo prior to Chemo. She also has other classic CNC markers, but overall I would say CNC hasn’t expressed itself much in my family.