Health Alert:

See the latest Coronavirus Information including testing sites, visitation restrictions, appointments and scheduling, and more.

Danielle's Story Not yet tested with a known familial BRCA1 mutation

patient story preview danielle

The Altersitz family tree is strong. Even with its many branches, the family sways in the same direction. Danielle, the youngest of three children, happily points out that she and her adult siblings live within a few blocks of each other and their mom and dad. This kind of loving and steadfast family bond, Danielle says, makes it much easier to deal with their risk of hereditary cancers.

Danielle Altersitz as a childA few years ago, Danielle's older sister, Katrina, learned through a blood test while pregnant with her second child, that she was a carrier of Canavan Disease, an inherited genetic disorder that causes progressive damage to nerve cells in the brain. Her daughter does not have the disease, but this made Katrina wonder if she was a carrier of other diseases, especially considering the family history of breast and ovarian cancer.

When she was turning 31, Katrina had BRCA genetic testing. After receiving her results, Katrina called her parents, Avé and Russell, Danielle and their brother, Martin, asking if they could all get together. "We all met at my parents' house. Katrina felt it was important that she was the one telling each of us and to let us know that we are all in this together," Danielle recalls.

"At first, I was sad for her. I couldn't believe that it was really true. Then, I was happy that she knew so she could at least begin to plan accordingly. I was scared, too," Danielle says shaking her head. "Scared because of how much we've been through: losing women so close to us to breast cancer and ovarian cancer."

Danielle Altersitz with family on beachWhen she was just nine years old, Danielle's paternal aunt died of ovarian cancer. Her grandmother died of breast cancer when her dad was just 14, so Danielle never had the chance to know Grandma Hilda. Both women died in their early 40s. Katrina's mother-in-law and her close friend also died of breast cancer. Her friend was only 30 years old.

"As my sister put it," Danielle explains running her fingers through her long, silky brown hair, "we always sort of knew the cancer in our family was hereditary." Once Katrina tested positive for the BRCA1 gene, the Altersitz family began doing as much research as possible. "We went as a family to a genetic counselor and chose to see Dr. Bradbury at the University of Pennsylvania." Danielle's mom worried the BRCA mutation came from her. "She doesn't know a lot of her history, but she felt she had something to do with it. When we met with the genetic counselor and mapped out our family history, it showed mom the chances of her being the carrier were slim."

Her sisters' BRCA results prompted Danielle's dad to get tested. "He was hesitant at first because we were assuming the gene was from him. I think a lot of it had to do with feeling guilty." Because of his heritage and family history of breast and ovarian cancer, Danielle's family were sure he was the carrier of the gene, "so it didn't come as a surprise when Dad tested positive for the same gene as my sister," she adds.

"After discussing options, researching, and Dad testing positive, I knew I needed to know. Genetic testing gives me the chance to fight before the fight really starts." Danielle says self-assured. "But," she pauses slightly, "there are still things that I would like to have in place before getting tested."

Danielle was a few months shy of turning 25 when her sister received her BRCA test result. Katrina's BRCA positive result allowed Danielle to qualify for early breast screenings at the age of 25. Currently, she has breast MRI surveillance every six months and will continue this regiment until she has genetic testing. "Once I've been tested," she explains, "dependent on my results, I will continue with screenings and look into other preventative measures such as (prophylactic) surgery."

Danielle Altersitz wedding 2Unlike her sister, who has been married for 7 years and has two daughters, Danielle is just newly married. At age 26 now, she and her husband need to consider when to have children and how that decision will be affected by a positive test result of a BRCA gene. "Luckily," she says somewhat relieved, "I have some time before making decisions about surgery. My entire family is unbelievably supportive. We have a sense of humor about it and try not to let BRCA dictate our lives. My husband says that no matter what he will be next to me every step of the way," she smiles with confidence. And for now, Danielle challenges herself to just enjoy her twenties , her husband, and her family without over thinking what she may want to do to lower her cancer risks later in life.

The experience of managing and coping with hereditary cancer has made Danielle wise beyond her 26 years. Perhaps her interest in biology and her being a middle school STEM (science, technology, engineering and math) teacher have also helped her appreciate the importance of understanding genetic risk factors. "If you don't know much about your own family," she advises, "you should try your best to find out. I know genetic testing isn't for everyone, but it certainly can help individuals understand better and plan. By knowing your risks, you can choose what is best for you."

As she awaits her genetic testing, sometimes patiently and sometimes anxiously, Danielle remains vigilant with her health and looks up to her older sister Katrina for strength and guidance. "My sister has been such an amazing role model and so strong through all of this. We're walking this journey together. She's paving the road for me. If I come up negative, I'll feel guilty. I can't imagine her being positive and me being negative."