My Story- as of 6/20/09

I'm your typical 16 year-old girl that has gone through some pretty atypical stuff. If there's anything that I've learned from going through what I've gone through, its that the only way to take life is one day at a time. I've also learned to take nothing for granted, because you'll never know what tomorrow actually looks like.

In early August of 2005, my mother called me to tell me that she was having pretty bad chest pain, and that she was headed for the emergency room. After hours upon hours of testing, the doctor ordered for an echocardiogram- An echocardiogram is essentially an ultrasound of the heart. Immediatly, the tech doing my mom's echo saw a large mass in my mother's heart. She was diagnosed with a cardiac myxoma, or a tumor of the heart. Myxoid tissue is gelatinous by nature, and is benign unless other cancerous tissue is surrounding it. Because myxoid tissue breaks apart so easily, an embolii could have lodged somewhere in my mom's body causing temporary or permanant loss of circulation in that part of the body. People who have had undetected cardiac myxomas are often diagnosed with them after they have died of a massive stroke. My mom had open heart surgery to remove the tumor less than 24 hours after she was diagnosed with it. When my mom was still in surgery and the surgeon was getting ready to close her up, he found 2 more myxomas in her heart, and removed those as well. She recovered quickly and without complications and returned to work after only 5 weeks of recovery.



All was well with my mother's health until late 2007 and early 2008. She had gone in for a routine mammorgram, and had some abnormal results that her doctor wanted to investigate. Her doctor scheduled a biopsy. A biopsy is a mininmally invasive procedure that helps doctors get a better idea of what is going in the patient's body. The pathology report for her biopsy showed two things: First, the pathologist found pre-cancerous cells in my mom's breast tissue. Second, the pathologist found myxoid tissue in my mom's breast tissue. The pre-cancerous cells led to an official diagnosis of ductile carnimona. It is one of the only (if not the only) kind of cancer diagnosis that isn't treated with chemotherapy/radiation. For months, my mom went through numerous surgeries only to hear that her "margins aren't clear enough". She eventually came to the decision to have a double masectomy. That was a traumatic surgery for her to go through. When she was through recovering from the mastectomies, she then went through several reconstructive surgeries. It wasn't until just about 2 months ago that the entire ordeal was actually done.



The other aspect of my mother's breat biopsy is much brighter. That biopsy, as much bad that resulted from it, saved my life. The pathologist who wrote my mother's pathology report made the connection between myxoid tissue in my mother's breasts and her cardiac myxomas. Cardiac myxomas are rare as it is, but having that kind of tissue grow in another part of your body in addition to in the heart is extremely rare, and since the 1970's, has been linked to an extremely rare endocrine disorder called Carney Syndrome, or Carney Complex. Until the 1970's, Carney Complex was a gene simply grouped with Cushing Syndrome, another endocrine disorder. Dr. Carney of the Mayo Clinic and Dr. Stratakis of the NIH began working together on isolating this gene, and sure enough, they were able to. As of today, no more than 500 people have ever been diagnosed with Carney Complex. The pathologist told my mom about Carney Complex, and encouraged her to be tested for the gene- and she did. Sure enough, my mother tested positive for the gene. She was able to get ahold of Dr. Carney himself, and has kept in touch with him for over a year now. All through my mom's breast cancer ordeal, she was corresponding with Dr. Carney about all of our symptoms. Dark freckling of the face and lips are very obvios indicators of the gene. As soon as my mother sent Dr. Carney a picture of me, he said that without a dobut, I had Carney Syndrome. This wasn't too surprising for my mother to hear for at least one of her children since there is a 50/50 chance of passing the gene to your offspring.


Knowing that I probably had Carney Syndrom, Dr. Carney encouraged my mother to schedule me and my sister (but me especially since I had the freckling on my lips) for echocardiograms and EKGs. On October 29th, 2008, I had an echocardiogram. At the time, I didn't really understand why mom had made this appointment for me. It would have all made a lot more sense if she had filled me in on the Carney Syndrome part, too. Throughout the 2-hour appointment, all I could think about was how I had been missing so much class in the morning (Spanish AND AP Euro, is this really necessary mom!?) and the upcoming Glenbrooks debate tournament.

I will never forget the moment the cardiologist came into the exam room and told me that he "wanted to show me some pictures". I thought that was something you told your niece after a trip to some exotic place, or to a jury during a murder trial- Certainly not when you're telling someone that they have a life threatening condition, and that you have photographic evidence of it. Obviously, Dr. Holmes would beg to differ. There was no way to put it lightly then, nor is there one now- I was a walking time bomb waiting to have a stroke or lose circulation in one of my legs or arms. I tried to remain collected while my mother broke out in sobs. "Ok. Well, I'll have the surgery over winter break," I said to the doctor while trying to make my cracking voice as discreet as possible. "I was thinking more like this Friday- Monday at the very latest. I need you to understand that this tumor could kill you at any moment," he said. I know that he was trying to let me down as softly as possible, but it was still unbelievably surreal, and I couldn't contain my emotion any longer. He left my mom and I alone for a few minutes to comfort eachother. My mom was just getting ready to go back to work the following week, but she said that that would have to change. We left the doctor's office, and all I could think about was getting to school and distracting myself with school, like I always have. When my mom and I got to the car, she starting sobbing even more, and that's when I learned about Carney Complex. Breaking the news to my entire family was incredibly difficult, and even more draining.

My surgery was scheduled for Friday October 31st, just two days after the diagnosis. I had the surgery at Presbyterian Hospital. I had more friends, family, and flowers than I could keep track of. Every single one of my doctors and nurses were great, and I couldn't have asked to have been in better hands at any moment during my surgery. There were some bumps in the road, but I recovered without complications. All I have to show for my surgery now is a few decently sized scars- And that's enough. Two days after my surgery, my sister went in for an echocardiogram, and luckily, they found nothing. My sister was also tested for the gene linked to Carney Complex. Sure enough, she tested positive. That was devastating for everyone in our family.

I returned to school around December 5th, but only part time. I tried to jump back in too quickly, and in January, I wore myself way down, and with much regret, dropped my photography class that I had quickly grown to love. In the months following my surgery, I began to notice pretty dramatic changes in my vision over short periods of time. I went to see an opthimologist, who noticed suspicious pigmentation in my left retina. She referred me to a retina specialist in her practice who I got to know pretty well over a decent period of time. At that point, I was getting Visual Field tests pretty often (to test the range of my vision). The visual fields were showing that I was not seeing in part of my left peripherral, and that over time, it was getting worse. Pretty soon, the retina doctor suspected that I had RP, or retinitis pigmentosa. RP is another rare condition (not linked to Carney Complex, though) that reduces vision to tunnel like vision (imagine looking through a circle and it getting smaller and smaller until you eventually go completly blind) and will eventually lead to blindness. This suspected diagnoses was eventually ruled out after several more months of testing. In April, my vision had finally stopped changing so rapidly, and I had a final visual field test that indicated I was regaining circulation in the part of my left eye that I wasn't seeing in. The abnormal pigmentation in my left retina, for a while, remained unexplained.

During the eye issues that I was experiencing, I also began having intense pelvic pain, and nothing could alleviate it. Several cysts were found growing on my ovary, but they were not big enough to be of any concern. My doctors simply wanted to continue monitoring me- And so they did. About 2 weeks after school was out, I was in the pediatric urgent care with my pelvic pain. I had 2 different scans, and my doctor told me that my left ovary was about 9 times the size of the right one, and that I had a 3 cm cyst on it. I also had over 60 ccs of fluid around it. The biggest concern at that point was a strangulated ovary. Surgery was seriously considered, but my doctors were hopeful that the cysts would go away on their own. Although it was painful, I was able to avoid surgery. Not all of the pain is resolved and my doctors are still having trouble understanding what has been causing it.

The upside of my mother's close communication with Dr. Carney was the opportunity that the NIH offered us. We were invited to participate in an all expense paid clinical study at the National Institutes of Health in Bethesda, Maryland. The trip provided us with answers that we couldn't have found anywhere else. The research hospital that we stayed at for nearly 2 weeks checked us from head to toe, inside and out. I was actually able to get to know Dr. Stratakis (the doctor who worked with Dr. Carney to isolate the gene now called Carney Complex), and can know officially call myself his patient. He continues to look over all of my medical records and has been able help me better understand the disease that in many ways have defined my life, and will continue to do so for the rest of my life.

I had several concerns that I hoped Dr. Stratakis would be able to addresss. The first was my eye situation. He explained to me the most probable situation: During my surgery when my surgeon was removing the tumor, and small piece of it broke off and hemmorged in my retina. He said that because I'm so young, I will be able to recover completly from it. Unfortunatly, being young has its disadvantages, as well. He said that the younger a person is when they have their first cardiac myxoma (that's when a red flag came up- first?!), the more likely they are to have more in their lifetime. He said that I have a 2/3 chance of having multiple cardiac myxomas in my lifetime. Not only that, this tissue can grow in other places in and on the body- Skin, intestines, colon. He said that if I develop another myxoma, he wouldn't necessarily want me to have surgery because a human heart can only be operated on 4 or 5 times at the very most. As scary as this news was, it was a wake up call to me to really start appreciating life. There is no way to guarantee that I will survive my next myxoma, or the one after that. All I can do is have echocardiograms every 6 or so months and hope for the best.