I was diagnosed with a PTEN mutation in 2002. To say it has been a struggle is an understatement. I carried a notebook to every appointment full of information because I was often titled a drama queen or an attention seeker. I fired one doctor because he said the reason I was in so much pain because I was depressed, I had kidney cancer. Another told me to “stay off the damn computer” while yet another argued with me stating a thyroidectomy wasn’t necessary. I simply said, “I’m going to call genetics, and they will tell you the same thing I’m telling you, shall we cut out that step or not?”
The diagnoses due to my PTEN mutation have been numerous, some missed, some ignored, but all life-changing. I had a massive AVM in my left thigh and almost lost my leg at the hip flexor. A supposed stroke in 2012 turned out to be a benign brain tumor, a missed plural effusion after a heart procedure turned into pneumonia, I have stomach issues because of the carpet of harmatomas in the lining of my stomach. Thankfully, I had jobs which came with quality amounts of sick time because my journey has included many hospitalizations and surgeries
My asthma as a child was severe and followed me into adulthood, and it was so severe that I thought I would surely die from it. It was never managed, primarily because the parents weren’t compliant, and today, it is responsible for my diminished lung capacity and shortness of breath. I am not on oxygen yet but PFTs are 39, and I am looking at oxygen in the very near future. I often wonder if my parents did a better job of recognizing the disease, would my lungs be in better condition today?
Today, research has advanced, and great strides have been made in all areas. Because of my advocacy, my doctors are more willing to listen. I have learned through research the need for dietary changes to aid in cutting back inflammation, and that a whole food, plant-based diet results in fewer colon polyps in my case another problem resulting from my pten mutation. An example given by a gastro doc at a recent symposium stated that the number of polyps dramatically decreased 75% due to the patient’s dietary changes. I found that following a low carb, whole food diet has reduced my overall pain.
This disease doesn’t just affect your physical health, but your emotional well-being as well. I grow weary having multiple appointments in a day and often have to travel over 2 hours one way for the best care. I live daily with the fear that I will miss a symptom or a lump or a new mole as I have survived melanoma twice, or my doctor won’t believe me, and I will once again wind up in surgery. The struggle is constant to stay positive because, at any moment, another life-altering diagnosis comes into play. Fortunately, I am now followed annually by an oncologist specializing in hereditary cancers making my role as a patient advocate so much easier. I also run an online support group where my focus is emotional well-being. It is very isolating to have such a disease without like-minded people that can walk the very same path. We share ideas, ask questions and give emotional support. I have been walking this path for 16 years, and while it has been a struggle, I’m finding life more comfortable with the great strides being accomplished with research. I was able to attend the US PTEN Hamartoma Tumor Syndrome Foundation PTEN Patient Symposium several months ago where researchers from all over came together to discuss where they are with current research. I take comfort in sharing my experiences with others in hopes that my struggles, don’t have to be theirs.