Patient experience: Living with desmoid fibromatosis
pharmafile | December 4, 2019 | Feature | Business Services, Manufacturing and Production, Medical Communications, Research and Development, Sales and Marketing | desmoid fibrosis, feature, patient experience, pharma, rare disease
Lisa Pascoe lives with a rare, benign desmoid tumour in her abdomen. She opens up to Pharmafocus on her diagnosis and experience with the UK healthcare system, as well as her advocacy for Desmoid United UK and her proactive approach to change things for the better.
Can you explain a bit about your condition?
Desmoid Fibromatosis is basically a form of tumour that tends to occur in the soft tissue, so they fall under soft tissue tumours and, luckily for us, Sarcoma UK have taken it under their umbrella. It occurs in about three to four people per million.
They are not classed as a cancer though, but a doctor will tell you that they are a benign tumour that can be locally aggressive; however, they’re not malignant because they can’t spread around the body. If aggressive, they can eat into the tissue as well as the bone. Unfortunately there isn’t a set treatment as there’s no set pathway. There’s no cure; patients are often really sent down the main cancer routes – chemotherapy and radiation therapy.
Can you walk us through how you originally received your diagnosis and what events led up to that?
I was lucky in that, compared to most people, my diagnosis was pretty quick; it took two months. It started in February 2014: I was playing with my son on the floor and I got up and had this really almighty pain and cramp and felt a lump there. I went to the GP and was lucky enough to be fast-tracked; I had a CT scan and they confirmed there was a mass in my abdomen. Then I got rushed through for an MRI scan. They then needed a biopsy to confirm exactly what this was. I was prepped for a kind of sarcoma and I was quoted as having aggressive fibromatosis.
I found the diagnosis appointment a bit patronising. I remember him saying to me – and all patients would have heard this – ‘it’s okay, you should be very grateful, this isn’t a cancer’. But they also told me this is incurable, there’s no pathway or care and there’s little hope.
When I asked him for a patient leaflet I was sent on a wild goose chase for something that didn’t exist. Blank stare after blank stare and two hours later I realised there was no patient leaflet for me.
Sarcoma UK have actually now produced a patient leaflet. Not many of the hospitals have got it and we’re hoping in the future that we can produce our own patient leaflet and get it to the patients that don’t have information.
Have you received any treatment for the condition? How does your experience compare to that of other cases?
I would consider my journey to be pretty unremarkable compared to a lot of people I’ve spoken to. My tumour is considered stable. I’ve been on what they call wait and watch, which is basically what it says. They just scan you on a regular basis normally – three monthly scans, six monthly scans and then annual scans. It’s done to keep an eye on it and make sure it’s not growing and nothing untoward is happening.
I’m an admin on Desmoid United UK which is basically a support group for anyone or their family with a desmoid tumour. We’ve got people on there that have had tumours removed surgically that have been the size of a watermelon. We’ve had other members who have [still] got a tumour the size of a watermelon, on their back, in the abdomen. It’s a really debilitating illness that just isn’t getting the support and awareness because we’re so few in the UK – there’s just not enough of us to warrant that kind of research into this.
A lot of patients have had gruelling treatments with little to no joy at all or resolve. You know, there are people in the group who have children who have got aggressive tumours in the throat and they’ve had chemotherapy after chemotherapy, they tried radiotherapy and numerous treatments. It’s failing people that there is nothing in the UK to say ‘this treatment will work’. It’s literally a process of trial and error.
How has your experience been with the NHS throughout your diagnosis and check-ups?
I haven’t had a great experience with NHS doctors unfortunately. I have been fortunate I know many people who’ve had amazing experiences and they’ve been very lucky to come across some of the best doctors here in the UK. Unfortunately for me, I live in a very rural area. I wasn’t sent directly to a sarcoma specialist, I attended my local hospital and I had a bad experience with my consultant there. And this led me to get a second opinion from the Marsden and now my care is now all under the Marsden; it takes six hours travel but it also gives me peace of mind.
How does your condition affect your everyday life, and what do you do to manage it?
I’m on wait and watch so there is no treatment offered to me. However, I require pain relief because it’s in my abdomen and it’s lying right across my core muscle. So if you imagine a small clamshell telephone in your stomach – it poses problems when trying to breathe and when I try to bend or use the core muscle. I’m on daily pain relief and I get a lot of cramping, and now when my whole rib cage goes into spasm the cramps take my breath away and leave me in absolute agony for up to five minutes at a time.
How has the condition affected your mental wellbeing?
Wait and watch poses its own problems mental health-wise. I feel like I don’t get any support. My appointments are only yearly now so you only get a brief chance to link in with your consultants. I would say it’s definitely affected my depression and my mental health. It’s really difficult to feel like this as it’s very, very isolating.
Can you tell us a bit about the group and the work that you do with Desmoid United UK?
The group has been absolutely amazing. I managed to link up with two lovely ladies in 2016 – one lady who has been living with desmoid due to familial adenomatous polyposis for 20 years. She had multiple desmoid tumours. A lady came from Wales, a lady from London and I drove up to Bath from Cornwall. We had the most amazing afternoon; we had such a strong connection through our rare disease. That afternoon we swore that we would keep this going as we wanted other people to have this opportunity. In 2017 we had our most successful meetup with around 15 patients who travelled from all over the UK meeting up in Bath, and we also had Sarcoma UK in attendance. Since then, the group itself has grown massively; as of this month we’ve got 556 members. Just recently I’ve taken the extra step to try and link in with rare disease charities like Genetic Alliance UK, Find a Cure and Sarcoma UK who have especially been monumental in giving me the information I need to be able to take this out of Facebook and into the wider world so that we can create either a foundation or charity for desmoid fibromatosis patients here in the UK.
Additionally we’ve just managed to secure funding through a sarcoma clinical nurse specialist in the East Midlands area for a conference next year for patients within our group. There’ll be a conference hall booked and there’ll be speakers available and information, so it’s a really exciting time. As far as the group goes we have such a wonderful community. We catch people at the beginning; we catch people in the middle; we catch people who’ve been suffering for many years alone. But the one thing that they all say is they are so grateful to have found the group because it really breaks the isolation.
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