“Having breast cancer with a genetic mutation led to some hard decisions.” Donna’s Story

Published: 08 January 2024
Following her breast cancer diagnosis, Donna found out she had a cancer-causing variant in her PALB2 gene. She shares how this impacted on her decisions around treatment.

Meet Donna

I'm Donna and I was diagnosed with a hormone receptor positive breast cancer in my left breast in 2020.

I found a lump during COVID and this was after a friend of mine from school had just passed away with breast cancer. I took the lump more seriously than I would have done, so I’m grateful to her for sharing her story.

I had an ultrasound which showed something suspicious. A few days later, biopsies were taken and I found out that I had breast cancer

It was a highly anxious time and things developed rapidly. The decision was made to have a lumpectomy as it was COVID and theatre schedules were tight. 

During this process I asked about genetic testing, but they didn’t consider my family history suspicious. I had made assumptions based on what I was told by my family. I decided I still wanted to have genetic testing. So, I was referred and had a genetic consultation and testing done.

“I had a call to tell me I had a gene mutation called PALB2. I was in shock.“

It was the height of COVID and I was totally isolated. I had to now try to make difficult decisions about my cancer journey and the genetic diagnosis.

My chemotherapy was scheduled to start immediately after I got the genetic results, so I had to think about surgery or alternative options all throughout my chemo treatment. I was very stressed trying to have video consultations with surgeons to ask questions about what my options were.

I had every intention to have a double mastectomy after chemo, but I was very poorly during my treatment. They even suggested that I should extend my chemotherapy due to anecdotal evidence about the benefit for PALB2 carriers which threw me again. I came out the other side of chemotherapy, and I was not physically or emotionally ready for big surgery that could have complications.

It took me some time to make the really hard decision that I would just proceed to radiotherapy and then get wait and review until a time in my future that I could think about having a double mastectomy.

“Having a genetic diagnosis halfway through my treatment was hard.”

Even though all the treatment options were offered to me, I couldn’t emotionally or physically accept them. This is the consequence of not doing a genetic test prior to the start of treatment. I have made peace with that and I have to live with the anxieties that surveillance brings.

It was the hardest decision I have ever had to make, but I had to go with where I was at that time. Genetic testing should be done first as it makes a difference to the whole treatment path.

Testing was done in the family. We didn’t uncover until later that the gene mutation actually came from my mum’s side. Jade, my younger sister, also tested positive for PALB2 but my older sister Clare was not a carrier. It shows how in a family there can be a number of people that inherit this. Jade has gone on to have a preventative double mastectomy.

‌ “I didn’t know what PALB2 was and there wasn’t much awareness about it anywhere.” ‌

Even though I’ve worked in healthcare for all of my career for some reason I just did not look into the family history or find out more. That is why I went on and developed the initiative #NotJustBRCA.

It is not a charity, it's a movement of driving patient advocacy: encouraging people to be their own advocate, to ask questions, and to take forward any concerns.

We hope to get the healthcare system talking more about the fact that there are genetic mutations linked to breast cancer. One in eight women are at risk of breast cancer, so it’s worth knowing if you are further predisposed to it if you have a mutation.

“I was so blindsided by the breast cancer diagnosis.”

Although I felt supported in terms of understanding the risks of a genetic diagnosis, I wish I had had a family member as a representative to help answer questions and to find out information which I didn't or couldn’t do at the time.

Some of the work that I've been doing with the NHS is promoting the idea that a representative of the family, or a friend, can help facilitate and navigate with you during your cancer pathway. I would advise my past self to not be afraid to reach out to others. Knowing you’re not alone is so important, a cancer diagnosis by itself can be so isolating and then you throw in genetics and suddenly you’re thinking about other cancers too.

Finally, taking time out to seek some inner peace so that you can make decisions calmly and give your mind a chance to rest. Your mind gets so tired from the anxiety and thinking about every scenario, so taking a break was what helped me make the decisions I needed to.

Learn more about PALB2 genes


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