My gene mutation story

A place for everything, and everything in its place...

From a young age, we are taught there is a certain uniformity to the world. Things need to be organized and well-kempt in order to have peace, progress and productivity. The world needs order to function. Without order in the world, chaos is bound to ensue.

This is a saying that I’ve been thinking a lot about lately. For the longest time, I believed that the rule of organization was also true in humans. Our bodies thrive on order, and if one thing falls out of place, the rest of the body will crumble. Chaos will ensue.

About a year ago, I was officially diagnosed with a genetic mutation in the Pten gene. Formally known as Pten Hamartoma Tumor Syndrome (PHTS), this is a condition with vast and far reaching medical effects. The Pten gene acts as a tumor suppressor. When working correctly, it helps to ensure that there is order in the body. A functioning Pten gene puts a stop to any impending cancer threats. All is right in the world, and order reigns.

However, when there is a mutation in the Pten gene, things quickly fall out of sync. When the Pten gene is mutated, the body doesn’t not put a stop to cancers and diseases. For people with this gene mutation the likelihood of cancer skyrockets, with upwards of 82% for some cancers.

While there is no cure, I now have to get frequent cancer screenings (breast, colon, uterine, renal, and much more). In addition to higher cancer risks, people with the Pten mutation are more likely to experience benign colon polyps, thyroid goiters, and brain tumors.

After receiving my diagnosis, I felt crushed. There were so many questions, but very few answers. Would I die at a young age from cancer? Will I pass this gene onto my potential children? My husband and I have had four miscarriages, and 1 ectopic pregnancy, and we were afraid that this would be the end of our journey to parenthood. There were so many questions.

For years, I believed my health was fine. There was order in my body, and I was safe. But now, there was no longer order in my own body. If I couldn’t control my body, how could I control anything else?

It has taken some time, but I have made peace with my diagnosis. I realize now, that I am so much more than my diagnosis. I am a wife, daughter, cousin, teacher and friend. I no longer live my life in a black and white world. Since receiving my diagnosis, I have started telling my story and urging people to get genetic testing.

This is a very rare gene mutation, impacting 1 in every 300,000 people. I have found others that share my diagnosis, and we are no longer alone.

After meeting with a Reproductive Endocrinologist, they reassured my husband and I that we can have children. We would just need IVF and genetic testing on our embryos to ensure we do not pass this gene on to our children.

A place for everything, and everything in its place...

While this may be true, I’ve learned it doesn’t apply to humans. People are so much more beautiful and complicated than that. Everyone has a different story in their journey to parenthood, and for my husband and I, we have a book with a few more chapters. I refuse to fall. I refuse to give up, and I am at peace in this beautifully.

Please get genetic testing if you feel like there is something wrong!!!!