What Shape Are Your “Genes “ In? Coco's Journey, Chapter 22

by Larry Puls @larrypulsauthor

BRCA mutation, Ovarian Cancer, Coco's Journey

Walking into the exam room, she sensed her pressure rising. What would he say today? But as she thought about it, he always had something encouraging to say. And she felt good. That had to be a positive sign. She took a deep breath and let her anxiety calm down.

“Good morning Coco. I hope you're enjoying your new life.”

"New life?"

"Yes. Off chemotherapy."

“Oh that. I am, as a matter of fact. It's pretty special. And I'm hoping you will keep me there."

"That's my hope too."


"I’m getting stronger day by day. My stamina is such that I can walk for over a mile at a time without stopping. And though I haven't shown you yet, I’m starting to get a little bit of hair under this itchy wig..." And then she pulled it off. "See... And probably the most exciting thing for me now is that my weakness is almost gone.”

“I'm so happy for you. That is great. Who knows, by the next time you come in, you may have a real hairdo… I am so proud of how you're working hard to get your life back. And I know what a big deal that is, given the magnitude of everything that you have been through. It is no small accomplishment what you have achieved.”

She sensed a real peace inside. “Thank you for saying that.”

“I mean that," he said as his eyes appeared deeply sincere... "And speaking of being done with treatment, I would like to discuss something with you I haven't brought up yet. Something I have been saving until we got through all of the treatment. But I think now is a good time."

"What's that?"

"I want to talk about risk factors for the cancer you had. Because it has bigger implications that just the cancer you went through.”

“Ok. Fire away.”

“One of the unique causes for ovarian cancer is that some of the patients like yourself, may carry a genetic issue. One that you may have inherited from your parents and set you up for developing this malignancy. Now I will tell you that the majority of the patients with this cancer do not carry these genetic abnormalities, but when they do, they can raise your risk for certain cancers besides the one you got. For instance, your lifetime risk for ovarian cancer in this country is 1.3 %, but if you carry a genetic mutation called BRCA1, your risk climbs to nearly 40%. That is a huge increase. And that same defect carries direct implications for your children and raises your risk substantially for breast cancer.”

“Really?” she said turning her head.

“If you carry the genetic mutation BRCA, your children have a fifty-fifty chance that they will inherit the gene from you and carry it for their life as well. And if you have siblings and the gene runs in your family, they also stand to have the same risk for this mutation that you have--which can be passed to their children.”

“How would that be possible for me to carry the gene if no one in my family has ever had ovarian cancer?”

“Do remember, I didn’t say you carry the genetic mutation, but that you are at an increased risk for it. But to your question, if your father carried the mutation, it’s very possible that it has been silently passed on from him to you. And if it was his father before him that carried it, the same would apply… So then I will ask you, do you know what your great grandparents died from?”

She nodded her head. “I do not.”

“Nor do I know what mine died from. The point is the gene can pass very silently from generation to generation, and equally through male lines, so that you may not have clue that you are a carrier. All that being said, I would like to send you down for testing at this point to see if there is anything there, to see what shape your genes are in. If there isn’t a mutation, then that is valuable information for you and your family. Because if there is, then we need to begin to look at testing the other members of your family—especially your daughter… And didn’t she just get married?”

“She did,” feeling her anxiety rising again.

“Then I will set up for this for you… And if you are positive, I will set up testing for your siblings and for your children. It’s important and it can save your life as well as their lives too.”

What Shape are Your Genes In? Larry Puls; (Click to tweet)

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Coco's Journey