NF1 breast cancer awareness campaign: Sharon’s story
neurofibromatosis
“You shouldn’t have to fight for what you’re entitled to”
Despite being aware of her heightened risk of developing breast cancer, Sharon Philips was denied the early breast screening the NHS recommends for women with neurofibromatosis (NF1). She went on to be diagnosed with stage three cancer in her early 50s. While it is hard to quantify the impact this ten-year delay in screening had, early detection can mean improved outcomes and it is Sharon’s hope that knowledge of NF1, and the associated risks, is increased among medical professionals so that all women with the condition are offered the best possible chance
A rare diagnosis
It was in 2003 that Sharon Philips was diagnosed with neurofibromatosis (NF1), when she was 31 years old. At the time she had been experiencing pain in her side which was getting progressively worse. She consulted with her general practitioner (GP) who sent her straight to hospital due to a drop in her blood pressure. Suspecting gallstones or an appendicitis, doctors ordered an ultrasound scan which revealed Sharon had a tumour. Assuming it was cancer Sharon was then sent to a specialist cancer hospital in London, a four-hour drive from her home in South Wales. It was here that Sharon received her diagnosis of NF1. Sharon recalls receiving little information and was told she had the same condition as Joseph Merrick dubbed ‘the elephant man’ because of his physical deformities. (It is now widely believed that Joseph Merrick’s symptoms were a result of the extremely rare condition Proteus syndrome, not NF1).1
“I had never heard of NF1 and I didn’t know what it was. I did exactly what I was told not to do, and I Googled it, but I felt I had to know everything.”
Upon reading the symptoms of NF1, Sharon said issues she had experienced as a child suddenly slotted into place. When she was diagnosed Sharon had four children under ten: three daughters and a son, and she says that challenges her own children had, also now made sense, such as delayed development and trouble walking. Her youngest daughter was just 14 months old and couldn’t yet sit up by herself, eat solid food or bear weight on her legs. Any time Sharon queried the delayed development she was told she “was worrying too much and looking for things”. Sharon now knew what to look for in her children, in particular café au lait type birth marks on the skin. All three daughters were later diagnosed with NF1.
Feeling powerless
When Sharon was nearing 40 her consultant neurologist first informed her of the increased risk of breast cancer. She initially went to her GP to request breast screening when she was in her mid-forties. Despite the NHS recommendation that women with NF1 in the UK should receive breast screening at age 40, 10 years younger than general population screening, Sharon was told by her GP that there was no increased risk and that the policy in Wales was for breast screening to begin at 50. Her GP did make a referral to the All Wales Medical Genomics Service (AWMGS) who reiterated this stance, confirming that in the absence of a formal recommendation, early screening would not be offered. Instead, Sharon would be invited for screening in the next few years through the NHS breast screening programme organised by Breast Test Wales. Armed with nothing more than the information she had been given by her consultant, Sharon felt she had no option but to accept their decision.
“I did feel very let down. I felt as though they thought I was overreacting at the time and so I just kept quiet and waited until I was over 50 to be called up.”
When Sharon reached the age of 50, which is the recommended age for general population breast screening, her mammogram was rescheduled five times, meaning she was actually 51 when she had her first scan. The screening showed that Sharon had ductal carcinoma in situ (DCIS), a non-invasive cancer where the cell lining of the breast ducts have started to turn into cancer cells. In some people, if DCIS is not treated it can become an invasive cancer.2
The mammogram also revealed another cancerous lump hidden behind the DCIS, behind Sharon’s breastbone. This cancer, when they found it, had progressed to stage three. Stage three cancer is a more advanced form of cancer and can mean that it has spread to the surrounding tissues and that there are cancer cells in the lymph nodes nearby.3 Sharon had no discernible symptoms at the time, apart from some fatigue but as Sharon notes, she was working two jobs at the time, seven days a week. The cancer was only picked up by the mammogram.
“I do think that if I had had an earlier scan they might have found the more invasive cancer behind the DCIS and got to it before it went to stage three.”
To treat the DCIS Sharon had a lumpectomy, which is surgery to remove the cancer. She then had a second lumpectomy to remove the hidden cancer along with some lymph nodes. Following this she had five rounds of radiotherapy. Because Sharon’s cancer was oestrogen fed and she had not yet reached the menopause, she is currently receiving hormone injections to initiate the menopause. She also receives acid infusions to strengthen her bones.
neurofibromatosis
Fighting to be heard
Having a rare condition can mean the patient is required to become the ‘expert’ in their condition and can feel like they have to fight to be taken seriously. Sharon says she rarely goes to her GP now about her NF1 as she knows more about her condition than they do which can make her feel frustrated.
Sharon believes the reason some women with NF1 don’t request early screening is because of a lack of reliable information alongside confusing advice on the right age to screen. “You don’t see anything in Wales, not even in doctor’s surgeries about the increased risks. I wouldn’t have known about it if I hadn’t been told.” She says that the increased risks don’t always come up in internet searches about NF1 either. “When you search neurofibromatosis, it says more about high blood pressure and tumours, you don’t see a lot about the increased risk of breast cancer.”
Because of Sharon’s experience her two eldest daughters are aware of the risks, and she feels they are strong willed enough to request the recommended early screening, which she will encourage them to do. Her youngest daughter, at the age of 21, has delayed development and so Sharon is more concerned for her. “I’ve got to be her advocate as she wouldn’t know what to check for.”
Sharon is currently waiting for her first routine mammogram since her cancer diagnosis and subsequent treatment. She says her hopes for the future are for an increased awareness amongst doctors of the increased risks of breast cancer for women with NF1, and that no woman should have to go through what Sharon experienced. “Doctors can be taught very easily about the increased risk. You shouldn’t have to fight for what you’re entitled to. I just took the doctors word for it as I thought they know more than me. But I don’t want anyone else to just take their word for it anymore.”
References
[1] https://www.britannica.com/biography/Elephant-Man
[2] https://www.cancerresearchuk.org/about-cancer/breast-cancer/types/ductal-carcinoma-in-situ-dcis
[3] https://www.cancerresearchuk.org/about-cancer/what-is-cancer/stages-of-cancer
We are delighted to work with Childhood Tumour Trust to raise awareness of the risk of breast cancer in people with NF1 and the importance of early breast screening. People with NF1 are at increased risk of developing breast cancer with those under the age of 50 having an up to 5 fold increased risk over general population. It is vital that people with NF1 understand their risk, know how to check their breasts, know what screening options are available and can advocate for themselves with healthcare professionals to ensure access to early screening which may fall outside of NHS normal screening age guidelines. You can view the entire campaign at https://breastcancer.childhoodtumourtrust.org.uk and also download the below factsheets.
