Updates and news

Sara’s story: “It was daunting to have to self-manage without much information so early in the scleroderma journey”

Sara was diagnosed with scleroderma in February 2020. She had been constantly ill with severe infections for two years, as well as symptoms of Raynaud’s, and suspected an autoimmune condition due to lupus being in the family. In January 2020, her GP sent off bloods, which came back positive for scleroderma and she saw a rheumatologist a week later.

My diagnosis came at a very difficult time; I was signed off work with fatigue, chronic insomnia and anxiety, my grandmother was diagnosed with terminal cancer and I had suspected COVID-19. It was a really overwhelming experience, especially with the pandemic and lockdown. After a difficult few months, things started improving and I was able to work from home.

I recovered relatively quickly from COVID-19, but unfortunately developed ‘long COVID’, it is thought that the scleroderma significantly delayed my recovery from the virus. My treatments and ability to see specialists have also been delayed and it was daunting to have to self-manage without much information so early in the scleroderma journey. Physiotherapy hasn’t yet been possible, and I had to wait to see a dermatologist, although I have quite significant skin issues. I could only get a video appointment, and was given a ‘diagnosis’ of possible psoriasis linked to my scleroderma, but this was without an examination.

Discovering the SRUK (Scleroderma and Raynaud’s UK) website was an absolute lifeline, and it was great to know that I wasn’t alone. I have been watching their various webinars and reading the myriad of information on their website and social media pages. This was often my only source of information, so to try and give something back, I have been actively supporting them by raising awareness – I was even featured on BBC News 24 and Radio 4 – which was nerve-wracking, but great to feel I was helping others. I have also fundraised through a sponsored walk and hope to be able to do more fundraising once lockdown has ended.

The lack of control that comes with my diagnosis scares me, but I try not to let it overwhelm me. I’ve been seeing a psychologist for several months, which has really helped my mental wellbeing, and helped me come to terms with my condition, which I knew nothing about before the diagnosis. However, it was a struggle to get access to formal health support to begin with.

Whilst I have started to feel more in control of my condition, there have been ongoing issues with my health that were made more difficult with COVID – I needed urgent gallbladder surgery last year but had to wait months; and then it was postponed due to lockdown. Luckily, I have had the surgery now, but it was a horrible experience having to wait for nearly six months whilst in pain…. a hardship I know so many people are currently facing. My grandmother also passed away before Christmas, and I had some challenges at work due to my condition, which just increased my stress level after an already difficult year.

I am determined to keep as informed and in control of my condition as possible. I’m also due to get married this year, so I’m hoping that restrictions might be lifted, and that this year will be much better than 2020. All you can do is try and focus on the positive things in life, and all the many opportunities we are lucky to have. Then, we can get through whatever life throws at us.

RAIRDA surveyed 1,300 people with rare autoimmune rheumatic diseases about their experiences during the COVID-19 pandemic, including asking about how their care had changed. We found that even as early as April and May 2020, 80% of people had experienced some kind of change or disruption to their care. Read the full report here.

Teresa’s story: “It is comforting to meet people who understand”

Teresa lives with Primary Sjögren’s Syndrome, as well as other autoimmune diseases. In this blog she talks about living with these during the COVID-19 pandemic and some of the support she has received.

I have been well supported during the pandemic via telephone consultations with my doctors and consultants. I was also able to email photographs of problems concerning my skin. These were assessed, appropriate remedies prescribed, and further blood tests requested. A practice nurse then took the blood in the practice car park so as to minimise my COVID-19 infection risks.

My hospital rheumatology department sent me the details of a rheumatology specialist nurse to contact in case I had any problems. I wanted some reassurance about receiving the vaccine and left an answer phone message. To my delight a doctor then called me to answer my questions.

My local support group for Sjögren’s has just started up again and has been excellent at passing on information and keeping the members up to date with events as they arise. It is comforting to meet people who understand the complexities of Primary Sjögren’s. We also exchange tips and suggest products that we have personally tried.

I have been shielding since March 2020. This has been hard as I am normally very involved with family & friends. It is difficult for others to comprehend my risks. As well as Primary Sjögren’s I have other autoimmune diseases and MGUS. The later indicates that I have too much of a certain para protein in my blood. This is checked every four months as there is the potential for MGUS to become Myeloma (bone cancer) and this also increases my vulnerability to COVID-19 & other diseases.

I have become more involved with R2P2, a patient research partnership, and am presently communicating with a PhD student as part of a research partnership. I have also taken part in other online research projects via Zoom. These engage my mind giving some order and focus in a life that is far from normal.

It is hard for others to understand what having a rare and invisible disease is like and to assimilate the consequences. It’s an enemy that stealthily attacks my own tissues, thereby reducing their ability to function adequately. The resultant dry eyes, mouth, skin, IBD, drug allergies, exhaustion, muscle, tendon & joint discomforts, constantly having to pace myself plus many other fluctuating symptoms are all unseen but make coping more unpredictable and difficult.

To the onlooker I appear normal and this can be frustrating. I think that during the pandemic most people affected by a rare disease will have at times felt misunderstood, lonely and afraid because the risks are real.

In my case the harsh reality is that I am immunoglobulin deficient which means that my body has potentially damaged the mechanisms that help to create a good response to the vaccine. Therefore, I am advised to shield until I can be tested to assess my anti-body response to the vaccine. Bad days are more difficult because for the past year there have not been the opportunities to divert the mood by engaging in outings, meeting family and friends, or even a trip to have a café break and for me these might not be possible as soon as I had hoped.

In Summer 2020, RAIRDA published a report based on 1,300 responses to a survey we conducted asking people with RAIRDs about their experiences during the pandemic so far. You can read this here.

Pam’s story: “It’s been difficult to accept that I can no longer do things that I used to love doing”

Ahead of Rare Disease Day we are publishing blogs from people living with rare autoimmune rheumatic diseases. Primary Sjogren’s syndrome is the designation given when someone is diagnosed Sjogren’s without having a prior diagnosis of another rheumatological condition. In this blog, Pam talks about living with the condition, how it’s affected her and how she has been able to manage it.

It was just by chance that my GP asked for an ANA (Anti-nuclear antibody) blood test. I hadn’t been feeling too well for a while, but I was shocked when the test indicated an autoimmune disorder and he immediately referred me to a rheumatology department.

They carried out a few more tests and decided I either had Sjögren’s or lupus, and I remember leaving that first consultation with the words, “it’s probably Sjögren’s” and being given a small booklet about it.

For many years before this I had experienced so many different irritating symptoms – IBS, joint and muscle pain, dry eyes, dry mouth and fatigue to name just a few. I felt I was just unlucky having to tolerate these, sometimes all at once, and simply tried to ignore them, but as time went on, they worsened. Now I was beginning to understand how this one rheumatic autoimmune disorder could cause all of them.

Research brought me to the BSSA (British Sjögren’s Syndrome Association), an organisation which offers support and organises group meetings. Even though I hadn’t officially been diagnosed yet, I decided to become a member and joined my nearest group. Meeting with others was so useful; Sjögren’s is rarely diagnosed and it can be very isolating, so it was helpful to hear how others managed. It actually took two years, and many more tests, before I was diagnosed with Primary Sjögren’s Syndrome.

My GP suggested I attend the Expert Patient Programme that our local NHS Trust was running. This is aimed at helping people with long-term chronic conditions learn ways to self-manage their symptoms, and Sjögren’s certainly has a lot of them. It gave me the tools to better cope with chronic pain, to know how to break my symptom cycle, and, more importantly, it has taught me that I am my personal Sjögren’s expert. As my GP says, I know my Sjögren’s better than anyone else.

It has been my experience over the years that different clinicians look at Sjögren’s in different ways; some have not come across it before, don’t fully understand it or see it as a very mild condition. Whilst some people have very mild symptoms, for others it is so debilitating it can greatly impair quality of life, as well as impacting on friends and family. From one day to the next I never know what symptoms will hit me. Sometimes it affects my whole body to the point where I feel it would be so good if I could just have a brand new one!

I tell as many people as I can, especially women, to look out for the signs as I wish I had known about it earlier. I have now learned what some of my triggers are and take action to try and avoid a flare up.

It’s been difficult to accept that I can no longer do things that I used to love doing. Over the years I’ve learned how to use positive thinking and mindfulness, to remember there is always something to look forward to and I always make sure that there is. I have discovered other activities that I can do and enjoy when I feel able.

There is life after a Sjögren’s diagnosis. It’s just very a different one from before!

Margot’s story: “I had a lot of people telling me it was all in my head”

We’re publishing a number of blogs from people living with RAIRDs in the run-up to Rare Disease Day. In this blog Margot, who lives with Sjögren’s, talks about her condition and her journey to a diagnosis.

I had symptoms for many years, but it wasn’t until 2014 that I saw a specialist and only in 2017 that I was diagnosed with Sjögren’s Syndrome.

Over that time before diagnosis, I had a lot of people telling me it was all in my head – although an eye surgeon who operated on my eyes remarked that my eyes were dry, which is a symptom of Sjögren’s. It also didn’t help that some of the diagnostic tests are more indicative than definitive and didn’t give a clear answer in my case as to what the problem was.

My symptoms include a permanent dry mouth, dry eyes, dry ears and fatigue. That might sound trivial but in practice it means I have to put eye drops in my eyes every hour or so, have difficulty eating and swallowing, and my fatigue is horrific to the point I often have no choice but to sit down. The dryness in my ears has also caused hearing loss and even with a hearing aid my hearing is really poor.

It is a difficult thing to live with, and when acute the symptoms can take over your day. There are all sorts of symptoms and they overlap with other diseases. The fact I also have symptoms of these other rheumatic diseases can be very puzzling.

The fatigue is extraordinary, you are warned to try to take your time over everything you do. It is frustrating for me; I was very active, and my job was very important to me – I loved it and I really wanted to go on working. Accepting you need to slow down and accepting you have a rheumatic disease is very difficult.

I was very grateful for webinar recently run by the BSSA (British Sjögren’s Syndrome Association) for patients with a specialist. This was useful for me and served as a reminder about some of the care for my eyes and teeth. I’m also really lucky to be part of a local support group with other people in a similar situation.

Awareness and understanding of Sjögren’s is not great among some health professionals and it would be helpful is this was improved. Although the specialist I see is a real expert, they are limited in their time. For nearly a year now, they and their team have also been supporting with COVID-19 care, which means it has been really difficult to get help and advice at times. Improving the awareness and understanding of Sjögren’s would be really helpful in situations where those specialists aren’t, or can’t be, involved.

Una’s story: “I’ve had to be my own advocate”

Ahead of Rare Disease Day, we’re publishing a number of blogs from people with RAIRDs.

Una Gillespie, 41, was diagnosed with Diffuse Scleroderma and Raynaud’s in 2015. The condition attacks the connective tissue in the body, turning it hard, and also attacks organs in the body. In Una’s case, it particularly impacts her lungs and hands and causes painful digital ulcers under the skin in the tips of her fingers and when they burst they leave her very prone to infection. The Raynaud’s is a secondary part of the condition which results in cold feet and hands. The blood vessels narrowing causes ulcers that can lead to serious implications such as bone infection and even loss of digits.

At the beginning of the COVID-19 pandemic I was furloughed and decided to use my extra free time to raise awareness of the condition so I started a fundraising campaign, for Scleroderma and Raynaud’s UK (SRUK) the only charity in the UK dedicated to helping people with this condition.  In May I completed a 40km walk – which was a painful challenge due to my scleroderma. Despite that, every Saturday throughout May I walked a 10km perimeter around my house and my friends and family joined in virtually.  I was also joined by other people living with scleroderma that I knew via support groups in USA, Canada, Netherlands and London.

I felt passionate about the fact that, Ireland did not have a support group for scleroderma and I wanted to change that. I am pleased to say, that with the support of SRUK we have set up the first Northern Ireland SRUK support group and so far, we have had over 40 people join us, virtually of course!

I feel this is a real accomplishment. This disease can make you feel isolated, because it’s rare people don’t understand how our illness affects us and treat us like exaggerating hypochondriacs.  I’ve also had to be my own advocate searching for treatments and looking after my ulcers because, apart from the specialists, health professionals don’t know enough about it.  Due to the low numbers it feels like there’s not much investment in clinical trials and that’s what is most frustrating.

But now I’ve found both newly diagnosed and those who have had the condition a while are loving our support group. We share our experiences and advise of the treatments we are on which may help people who are struggling with their meds to ask their doctor about different meds. It gives us somewhere to go where like-minded people who are facing something in common can feel in a way ‘normal’; we also love each others’ company and have a chat and a laugh!

I’ve been back at work since August with a fabulous company who are very caring and considerate when it comes to this condition and one thing that the pandemic has changed for the better is not having to take time off work for appointments; I email my doctor with photos and descriptions of my pain symptoms and they kindly reply with text and advising of any medications that may be needed.

I consider myself to be very resilient; I’ve had many events in my life where I’ve had to deal with things and move on. In March 2020 I was very scared of the unknown but now everything we did as a family paid off and my husband, children and I thankfully didn’t catch it. I’ve received first of my vaccines today and am due to receive the second in May. I look forward to a positive outcome to all of this very soon.

Scleroderma is incurable at present but with timely and proper support, life quality can be enhanced and life expectancy significantly extended. So, I will keep on advocating for support and equality of healthcare for all of us.