Genetics

I’m an ER nurse. Being an ER nurse means I work 12 hours at a time, 3 days a week. I know a lot about recognizing signs of impending death and how to stop it. I know a little about everything else medical. A jack of all trades, master of none, small increments of large bursts of adrenaline with codes or near death patients, just-enough-to-be-dangerous type of medicine. It’s addicting and I get excited just sitting here writing about it. 

This new cancer journey I’m on is nothing like this. It’s super specialized. It’s every-day-of-the-week an appointment. Literally….EVERY SINGLE WEEK DAY….Monday through Friday I’m at a doctors office or the hospital.  I’m so used to getting everything done quick and right away. Give me a great ER team and I will have an EKG, IV, blood work, x-rays, and half the time meds hung within the first hour of a patient’s arrival to the ER. 

With cancer it is all done over days and takes weeks to get anything done. There is so much to learn about the different treatment options, side effects, long-term outcomes, short-term outcomes, adverse reactions. A whole new set of algorithms that are much more complicated, intricate, and slowed down than anything in ACLS codes. It is a huge lesson in patience that honestly I’m not enjoying. I do not understand how anyone likes practicing medicine like this, but am trying to embrace and learn from it. Gotta find the joy and silver lining! 

The Genetics of Breast Cancer

First big learning experience was Wednesday with a phone call appointment with genetics. I think most people know about BRAC genes. If someone has a BRAC gene they are more likely to get breast cancer. There is also an increased risk of pancreatic, prostate, and ovarian cancer with BRAC genes and that’s just what they know about it so far. The science of genes is all very new and ever evolving. More is being understood and found out about these genetic risks daily. For instance, science has also identified PALB2, CDH1, STK11, PTEN, TP53, ATM, BRIP1, and CHEK2; all increase cancer risks too! 

With all the commercials and talks about genetic cancer I was surprised to find out that only 5-10% of breast cancer has a genetic component and it doesn’t affect the treatment plan much. I was also bummed out to find out the science is not evolved yet to determine which parent the gene came from. That is because it is a dominant gene: meaning if you have the gene, it is expressed and causes changes no matter who you inherited it from. Are you having flashbacks to biology class and Punnett squares yet?

Three Possible Test Results

When testing for certain genes, which is already in process for me, there are three different results one can get. The first is a negative result. This means that I wouldn’t carry the gene. The second is a positive result: meaning I carry the gene and am at an increased risk for cancer. The third is a variant of uncertain significance which means there is a change in the gene, but there is no current scientific evidence of the change they found causing any changes or problems.

Beyond information overload what does it all mean?!? If I do carry any genetic changes, then it can help guide some treatment and screening options later on. A double mastectomy is already on the table since my cancer is so aggressive, but carrying a gene may help get it covered fully by insurance. It also means I would get screened at a younger age and more frequently for whatever cancers are associated with the genetic mutations I have. The real winner is I could potentially get an “oophorectomy” (my second favorite medical term behind “thunderclap headache”). An Oophorectomy is when the uterus, fallopian tubes and ovaries are removed. This is exciting for me because it has potential to cure my endometriosis pain. 

Genetics & Health Insurance

Another thing I learned is that I cannot be denied health insurance or employment based on my genetic status. This is due to legislation called GINA. It protects individuals with genetic differences and you can learn more at GINAhelp.org. I thought that was really cool and wanted to let you all know about that. I can still be denied life insurance based on my genetics, but hey then I’m dead and that’s somebody else’s problem. Sorry Mitch.

Whew. That was exhausting just typing out and remembering. I’m sure you’re overwhelmed too! Welcome to my information overload life, dear reader! Like being back in nursing school with super long lectures that only half make sense and leave you drained, questioning your own sanity. At the end of that whirlwind hour long phone conversation, I agreed to a 47-genetic panel test to check 47 different genes associated with multiple different cancers. It all cost the same amount ($250) so I figured why not just test for them all! I will get results in 2–3 weeks and go from there.