Joanna’s Story
Reflections of her breast cancer diagnosis
22 October 2024
–"We are not alone in having NF1. There are 26,000 people who have NF in the UK."
My mother had NF1, as do both my brother and I. We are not alone in having NF1, there are 26,000 people who have NF in the UK. My name is Joanna, I am an academic geneticist working at Newcastle University, I work in the same building where my diagnosis was made through cascaded screening aged 38. This means that I was tested due to family members having NF1, rather than there being strong indications that I had the condition.
I came forward for cascade screening because I know it would pave the way for me to have access to breast screening. I was diagnosed with breast cancer June 2021 after a recall from my annual mammogram aged 45. Women with NF1 have an increased risk of breast cancer and should be attending annual mammograms from the age of 40 as the link between NF1 and breastcancer was made in 2011. My diagnosis was the start of 18 months of cancer treatment. For me, this involved chemotherapy, surgery, radiotherapy, and targeted biological
therapy but it is important to know that treatment is tailored to each patient.
When diagnosed with cancer last June I was running five times a week. I was as fit as I had ever been.
My mother was diagnosed with breast cancer at the age of 40, she died aged 42. She did not have the chance to take up a mammogram. So I would like to say to all woman with NF1, take up your yearly mammograms as they are potentially lifesaving. I do not have external diagnostic features of NF1 so even if you are very mildly affected these scans are important. I am not only running to raise awareness for Neurofibromatosis but also to get this message out to more women with NF1.
My big goal is to run the London Marathon in April 2023 and I'm now back in my running shoes running smaller 10k distances in preparation. My doctor gave me the okay for running, in fact they said exercise was recommended, but it is important to speak to your own medical advisers before starting a course of exercise. I ran the London Marathon for NTUK in 2019 to fulfil a promise that I made to my father who passed away in November 2018. I not only wanted to raise funds, but also awareness about Neurofibromatosis, and women with Neurofibromatosis Type1.
–"It is crossing the line that matters, not when you cross."
My most recent race was the Oxford 10k Town and Gown on the 8th of May. It was the first time that I had run 10k since just after my diagnosis and I must confess I ate the minion’s dust! But in 2019 when I ran the London Marathon, I was beaten by at least three of the rhinos, and that was running without cancer treatment so I have never been fast. But it is crossing the line that matters, not when you cross.
Any of these events are a personal race, I was buzzing at the end of both! When diagnosed with cancer last June I was running five times a week, I was as fit as I had ever been. The plan was to run a series of marathons across Europe starting in Moscow and ending in London but what a difference a year makes. I have decided that with my cancer treatment coming to an end in October 2022 that I'll focus on London April 2023. It is a fabulous race, London at its best and the support is incredible; I get goose bumps thinking about it. Running the mega marathon circle that I initially planned is not completely forgotten, in the back of my mind is a different next challenge; the Comrades marathon in South Africa, perhaps the world's most famous Ultra Marathon. My wife is a South African, and as an academic geneticist I have done a lot of work in South Africa having an honorary position at North- West University.