How Rare Cancer Saved My Life

I was diagnosed with wild-type ATTR-CM 11 months ago. Here is my story about the path that took me to my diagnosis.

In the summer of 2021, I noticed a bump on my left buttock/thigh area of my leg. In my annual physical with my primary physician, I brought it to her attention. I advised her that I had noticed this bump growing for a couple of months. She initially suggested that we wait and see what develops. I requested some sort of test to see what this bump is, as I did not remember injuring this area. She agreed to set up an ultrasound to see what the bump was. The ultrasound report said that the bump was most likely a carbuncle. I said I did not have an infected hair follicle and requested that the test be done over. She reluctantly agreed and set it up for about four weeks from that date. The report from the second ultrasound read that there were two unknown masses with an unknown vein attached to them. She advised waiting and seeing what develops or goes away. I said no, and that I would like it removed from my leg as since we had been testing this bump, it had not gone away and had in fact grown. She referred me to a general surgeon to remove the unknown masses in my leg.

In my exam with the general surgeon, he said we should wait and see what a bump is or is not, and give it some time. I again said no and asked that it be removed. This was towards the end of the COVID time, so this was not considered an emergency, and I had to wait three months for the surgery. The surgery was done in March of 2022, and the surgeon took much more time than he had anticipated, but the two masses, 5.3cm and 3.6 cm, were removed and sent to pathology.

Approximately two weeks later, the surgeon called me himself, and the first thing he said was that he was sorry, and that the masses were cancer. I was not mad at either my primary or the surgeon, as I learned that most doctors will never even see this rare cancer in their whole career! The cancer was a rare cancer called Malignant Peripheral Nerve Sheath Tumor (MPNST), a soft tissue sarcoma. This rare cancer, if metastasized, goes directly to the lungs. The general surgeon advised me that he had already referred me to a sarcoma treatment center at UCLA, Johansson Cancer Center, and that I would be assigned to a sarcoma team and would be going back into surgery asap for a radical resection to achieve clear margins within a week.

After healing from the second surgery, I received six weeks of radiation treatment every day. I will also get a chest CT as well as an MRI of the surgical area every six months. Shortly thereafter, after one of my Chest CT exams, my sarcoma surgeon said that there was no recurrence, but that there was an aortic aneurysm, and I should see a cardiologist asap.
Upon seeing a cardiologist, along with some tests, he said that he was not worried about the aneurysm and that the real problem is that my aortic valve was misshapen at birth and it was now severely stenosed. He scheduled me for open heart surgery to replace my aortic valve. This is now October of 2024. My old aortic valve was sent to pathology and then forwarded to the University of Washington for further tests. The Congo red stain test was positive for amyloidosis.

Genetic testing showed that the amyloidosis was not the inherited type and that I had the wild-type ATTR-CM. I started on Tafadamis in January of 2025. I am scheduled for Carpal Tunnel surgery in December 2025 and a Laminectomy in January 2026. I am currently getting everything fixed so that I can be active and get on with life. Life is awesome, and I love each and every day of it!

So had I not advocated for myself and found the rare cancer early, I would have never found my defective aortic valve, and I would have never found what will finally kill me. So, in effect, the cancer saved my life.