Living With a Silent Killer: UC Santa Cruz Student Diagnosed With Rare Genetic Mutation Linked to Premature Cancer Death

“I’m a little bit angry, but mostly sad,” says 22 year old UCSC senior Hannah Carrasco. “I’m sad that I have to now deal with this diagnosis for the rest of my life. I am scared that I will have to have surgery to remove parts of my body that might try to kill me,” she continues.

Terminal illness and invasive surgery wasn’t on Hannah’s radar a few months ago. Carrasco sported a clean bill of health, aside from tonsillitis at age six and a brief ER visit to treat kidney stones. “I consider myself a healthy person. I work out 5 to 6 six times a week and I eat healthy,” she says.

The Environmental Studies major was busy planning a post-graduation summer backpacking trip through Europe, and researching grad school programs. “Traveling has been my dream since middle school,” she tells me, “it’s trains and hostels and strangers and getting lost.”

Everything changed for Hannah earlier this year when her 31 year old cousin Adlih was diagnosed with stage III breast cancer. Tests later confirmed that Adlih carried a rare but deadly genetic mutation known as BRCA1–185delAG

According to the National Institute of Health (NIH), women with a harmful BRCA1 mutation are 5 times more likely to develop breast cancer, and 30 times more likely to develop ovarian cancer than women in the general population. Individuals with BRCA1–185delAG can develop these cancers extremely early in life, sometimes as soon as their mid-twenties and early-thirties.

Geneticists trace the origins of the BRCA-185delAG mutation back to ancient Jewish tribes living in the Middle East about 2,000 years ago. Jewish populations brought the genetic defect with them as they migrated across the world. The mutation remains prevalent among Ashkenazi (Eastern European) and Sephardic (Spanish/North African) Jews. Today, an estimated 1 percent of Jews worldwide carry the gene, while less than 0.2 percent of non-Jews are carriers.

After Adlih’s positive test, Hannah’s mother Shelle got tested for the mutation as well. “My mom was telling herself and us that the test would come back negative,” Carrasco recalls, “it came back positive.”

After her mom tested positive, Hannah rushed to take the test as well. “For me, taking the test was a no brainer. I wanted to know. I needed to know if I was positive so I could take steps to reduce my chances of getting cancer,” she says. Carrasco’s siblings were more hesitant to be tested. “Both of my sisters were putting it off, but they ended up taking it,” Hannah says.

Hannah Carrasco and her two older sisters (ages 24 and 26) all tested positive for the BRCA-185delAG mutation. Hannah also has a mutated BRIP1 gene. Her doctors estimate she has an 81 percent chance of developing breast cancer and a 47–66 percent chance of developing ovarian cancer in her lifetime.

“It’s especially hard on my mom”

“It’s both easier and harder going through this at the same time as my sisters. It’s easier because we are all experiencing the similar emotions and will have each other going through our journeys. It’s harder because I didn't want my sisters to have the mutation. It’s especially hard on my mom because not only does she have to deal with all of this, she has to watch all three of her children have to deal with the reality and high possibility of getting cancer or getting parts of our body removed to prevent cancer.”

“I want to have children with a man I love. If I get Ovarian Cancer before I have kids, I will be broken.”

“I want kids. I’m not sure how BRCA will affect that. My worst fear is getting ovarian cancer. On top of the BRCA mutation I have another mutation in the BRIP1 gene. Not much is known about that gene, but I have heard that it also increases the chance of ovarian cancer. I’m the only one in my family to have that extra mutation.

There aren’t screenings for ovarian cancer and once the doctors catch it it’s already too late in most cases. The only way to prevent that is to get a hysterectomy. Doctors won’t do that until 35 at least. That’s a surgery I am going to try to get as soon as I can. Although the risk doesn’t really start until the age of 30, people in their 20's can still get ovarian cancer. So, because I want kids and the future is so unknown, I need to talk to doctors about freezing eggs just in case. If I get do get ovarian cancer before I have kids and don’t have any eggs frozen I will be broken. I want my own kids.”

“I’m only 22, but now I need to start thinking about dating seriously and starting a family in the next few years.”

“I’m only 22, but now I need to start thinking about dating seriously and starting a family in the next few years. My mom just says (mostly joking) just to pop a few out now, but that’s not what I want. I want a family and I want to have children with a man I love. So my plan needs to be moved up a few years. I’ve always wanted to have a family and that’s really important to me. I want to hold my own child in my arms. My sisters (24 and 26) are lucky because they are both with people they want to marry and have children with. They will be able to start pretty much as soon as they want ( which might be a year or three).”

“I didn’t cry. I shut my emotions down because I needed to be strong for myself and my mom”

“Before I got my results, I convinced myself I was positive and did a lot of research and crying already, so when I got my results there wasn’t that much of a shock.

The test I took was through color.com. They send you a kit and you spit in a tube and send it back. There’s no face to face with anyone. You get an email saying to call and make an appointment with a geneticist from the color lab on the phone. My oldest sister got her results first and between the email and her appointment she had a couple of hours of knowing her results were in but didn’t know them. I got the email when I was home alone. I started shaking. I called to make an appointment and was able to get one in 15 minutes. I was shaking for the time I was waiting to get the call.

During that time I called my mom and she got home 2 minutes before I got the call from the geneticist. When they called, they asked if I was in front of a computer so we could go over my results together. I said no, so she told me that they found a genetic mutation in the BRCA1 gene. I didn’t cry. I shut my emotions down because I needed to be strong for myself and my mom, who now had 3 daughters with positive results. I was calm and asked the geneticist questions about next steps, risk of pancreatic cancer and more. I got my results at 11 am and didn’t cry until that night. It’s still hard and now it’s real.”

“I would like to start my adult life a little bit sooner than expected.”

“I would like to start my adult life a little bit sooner than expected, but I also don’t want to rush into anything because of this diagnosis. School is almost over for me and I am not sure if I am going to go to grad school. I am still not sure what I want to do as a career. I’m in that almost post-graduation confusion about my next path.”

“I hate that we have this gene!”

“I’m sad that my mom apologized to me when I got my results like it was her fault or something she could control. I hate that we have this gene. I hate that anyone has to deal with the thoughts of “it’s when, not if” when speaking about getting cancer.”

• Purchase Genetic Testing Kits For the Most Common Hereditary Cancers: https://www.color.com/
• Learn More About the Cancer Risks Associated with BRCA1 and BRCA2: https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet

Edited by Jordan Curtis

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