I struggled to find support for my PALB2 gene mutation

I didn’t know what breast cancer meant for my family

I heard the dreaded words ‘you have breast cancer’ at my annual breast screening in January 2019. As a woman over 40, I had been offered breast screening through the private healthcare I got through my employer.

I remember walking towards Oxford Street tube station, holding my phone in shaky hands, telling my husband about my diagnosis and making appointments for various follow-on tests and scans. It felt I was in some sort of dream.

I cannot remember anything about my journey home to West Sussex. When at home, I got on the floor and both my husband and I cried. We decided to tell our children straight away, they were 13 and 18 at the time. They were stunned and no one in the family really knew what to say.

We didn’t know what my diagnosis meant for us as a family. I hadn’t thought about death at all before – I was in my early 40s and I had big plans for my life. That night I went online and looked at over 750 clinical trials, hoping to find a cure.

I found invaluable support

I quickly realised that a lot of people wanted to know how I was doing and had many questions about my diagnosis and treatment.

I decided to set-up a WhatsApp group for my family and friends whom I updated on a regular basis. Their comments and encouragement provided me with invaluable support during very difficult time – I will be eternally grateful to all of them. Many of them sat with me during my chemotherapy sessions, they called it ‘coffee with Yulia’.

My office was incredible, and I managed to continue working on a part-time basis up until my surgery.  I even led a panel at an industry event just before my last chemotherapy and no one noticed that I was in a wig!

I felt like my treatment would never stop

My active treatment lasted 9 months and included 16 chemotherapy sessions, a bilateral mastectomy with immediate DIEP reconstruction and 25 radiotherapy sessions.

This year I had a bilateral salpingo oophorectomy (BSO).  I am taking Letrozole, have Zometa infusions and I was on Zoladex until my BSO. I felt like my treatment would never stop.

During my active treatment I did a lot of things that helped me – exercises and yoga classes, complementary therapies, drawing, meditation, listening to daily news briefings on Alexa that included everyday positivity and I also had counselling.

I attended a Look Good Feel Better workshop, a Penny Brohn Living Well event with my husband and Younger Women Together course led by Breast Cancer Now. I read a lot about research, new treatments and listened to many informative podcasts. My meetings with my medical team always overran as I had so many questions.

I was told I had a hereditary PALB2 gene

A year before my diagnosis, I asked my breast consultant if I should have genetic testing. My father and his mother had both died from cancer in their late 40s. We decided not to do the test then as I was not seen as high risk.

Post diagnosis and two months into my treatment, I was told I had a hereditary PALB2 mutation, later confirmed it was from my Dad’s side. My medical team referred me for genetic counselling that was very helpful. I checked every page on the internet trying to find more information and all roads led to the PALB2 Interest Group chaired by Dr Marc Tischkowitz, based at Addenbrooks, Cambridge.

I also joined many groups on Facebook including one called Palb2 Warriors. 15 months ago, there were 300 people from the US, Canada, Australia, UK. Today it has nearly 700 members as more people were getting tested and, like me, were searching for answers.

I struggled to find someone else with PALB2 to talk to

When I needed to decide if I should have a mastectomy or a lumpectomy, I wanted to consult as widely as possible. I used the Someone Like Me service and was paired with someone who had the BRCA gene, but I wanted to speak to someone who had PALB2. Luckily my hospital’s HBOC clinic connected me to Trudi who had the same gene, and she happened to work in the Imaging department at my clinic.

I became a member of FORCE, and they paired me up with a woman from Canada who had PALB2. I ran polls in the Facebook group to learn what others had done, receiving a lot of varied responses. 

I reached out to Dr Marc Tischkowitz and joined his research and eventually visited his clinic. It didn’t take me long to see that many PALB2 carriers had similar questions and were receiving different advice from their medical teams. Like me, many had children who might also be at risk of inheriting the PALB2 gene mutation and were worried about the emotional impact on them.

We’ve set up a session for patients to find out more about PALB2

Marc and I came up with the idea to host a patient information evening. We planned to hold it in London this June, but COVID-19 changed our plans.

Instead, we have set up a Zoom session that is taking place on the 24 September 2020. There will be a panel with Marc and two genetic specialists from Guy’s and St Thomas’s Hospital HBOC clinic, Dr Anju Kulkarni and Dr Vishakha Tripathi. They are my medical team whom I know and trust.

The event is aimed at people who have a PALB2 gene mutation and want more information. We will cover the latest research, how to manage their risks within their families, treatments and how to share this information with others.

I am excited to provide information for everyone in the UK and we’ve had a lot of interest from abroad too.

Find people who understand what you’re going through

If you’re struggling with your diagnosis, take time to settle with the news. Your emotions will be extreme for a while and your life will change significantly.

Do your research about all aspects about your treatment. There will be a lot of decisions you need to make and endless appointments, treatment sessions and scans. I bought a big paper diary, and it was overflowing with notes and questions for doctors during my treatment and afterwards.

Find a supportive network of your close friends and family and work out a way of communicating that works for you. There are so many valuable resources out there for you too. Find other cancer patients who understand your situation, like the Someone Like Me service. By finding people who get you, you’ll never feel alone.