23 November 2022
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.
I am an academic geneticist working at Newcastle University. I work in the same building where my diagnosis was made though 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.
The link between NF1 and breast cancer 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. 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.
Firstly, I would like to say thank you to all the staff of the NHS who supported me. I am a woman with NF1 without clear external features of the disease. I took up cascade genetic screening to access an annual mammogram from the age of 40; lucky that I did, as I was diagnosed with breast cancer in June 2021!
But I got to ring the bell this November.
So, if you are a woman with a close relative with NF1, consider talking with your GP about cascade genetic testing to access yearly mammograms. Ringing the bell marks the end of my treatment - a great relief and the chance to get back on track with my running plans in the near future.
I am not only continuously running to raise awareness for Neurofibromatosis but also to get this message out to more women with NF1.
Joanna with Rebecca, NTUK Specialist NF Nurse
My big goal is to run the London Marathon in April 2023 and I am back in my running shoes running smaller 10k distances.
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 November 2018. I not only wanted to raise funds, but also awareness about Neurofibromatosis and women with Neurofibromatosis Type 1.
I ran 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. I must confess I ate the minion’s dust!
My most recent race was the Choppwell Woods 10K in September.
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. What a difference a year makes.
I have decided that with my cancer treatment coming to an end November 2022, I will focus on London in April 2023. It is a fabulous race. London at its best, and the support is incredible! I get goosebumps thinking about it.
I will not lie; it has not been easy building up after 18 months of cancer treatment.
But I have been training hard. I have made it up to 25km in the distance stakes.
I have been mixing my training with different run types, including the dreaded interval runs.
In addition to running, I have been swimming, spinning and hiking.
Oh, I visited a spa too, but I did read a book about running while cooling off by the pool after a stint in the sauna.
All work and no play, as they say. It is getting close to the big day. I am excited and nervous, but perhaps more excited.
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.