Updates and news

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.

Useful links for patients and clinicians on COVID-19 vaccination

RAIRDA’s member charities have published their own guidance aiming to answer some of the most common questions people have raised about their condition and COVID-19 vaccination:

Clinicians

For all types of clinicians supporting people with RAIRDs, the following document may be a useful:

NHS England and NHS Improvement musculoskeletal stakeholder group (which RAIRDA is a member of) led by National Clinical Director for Musculoskeletal, the specialised rheumatology clinical reference group, the Behaviour Change Unit and the British Society for Rheumatology COVID group, all input and reviewed the different iterations of this draft document.

New research shows impact of COVID-19 pandemic on people with RAIRDs

New research published last week showed that in March and April 2020, as COVID-19 hit the UK, the risk of death among people with RAIRDs (rare autoimmune rheumatic diseases), in England increased more than it did among the general public. In this article, we explain the importance of this research.

Why is this research important?

As well as showing a generally higher risk of death for people with RAIRDs than the general public, other key findings from the research included: the fact that for people with RAIRDs, being female did not seem to reduce the risk of death, as it does generally with COVID-19; and that the risk of death from COVID-19 for people with RAIRDs increased from the age of 35, rather than 55 as it does among the general public.

The research does not tell us whether the extra risk of people with RAIRDs dying was due to them being more likely to become severely ill due to COVID-19 infection, or whether it was down to something else, like the disruption to care for their long-term rare autoimmune rheumatic disease.

Either way, this research shows that improving care for people with these conditions must be prioritised in the long-term. We showed in 2018 that there were long waits for diagnosis, inconsistent access to specialist care, and clear issues with coordination of care for too many people. These issues have been compounded, not created, by COVID-19.

NHS England’s current guidance says services should prioritise seeing people with RAIRDs, even if services come under pressure from COVID-19. This study supports this prioritisation, but coupled with RAIRDA’s findings, shows the need to build services back better to fix the long-term issues with care.

Importantly, clinicians and patients have highlighted to us the ways that disruption to care by COVID-19 stores up problems for the future. Delays to treatment, diagnosis, and medication monitoring could all have long-terms implications for patients, including potential organ damage. Whilst these less immediate impacts were not the focus of this study, they should not be forgotten.

Other important findings of this research include the fact that, ‘COVID-age’ a tool used by workplaces to assess someone’s vulnerability to COVID-19, would “underestimate the risks particularly to young and/or female people with RAIRDs”. Another planned COVID-19 risk prediction model commissioned by Office of the Chief Medical Officer for England to help GPs and clinicians give patients better advice about their risk from COVID-19 would also underestimate risk to people with RAIRDs. This is because the risk for people with RAIRDs is higher than people with other chronic conditions which these conditions have been grouped with.

This is the first research we are aware of that collects national-level data on rare autoimmune rheumatic diseases. One of the major issues with these rare diseases is that UK health services do not collect and compile data which can be used for this kind of research. The authors have done the RAIRD community an important service by showing how routinely collected Hospital Episode Data (information which is noted whenever someone visits hospital, importantly noting the condition they were admitted with) can be used to understand how people with RAIRDs are being impacted by the pandemic.

Whilst individually the 17 diseases covered by this research may be rare, the study shows that just under 170,000 people have been diagnosed with one in England since 2003 and were still alive as of the 1st March 2020. So, the first message to take away from this research is that lots of people live with RAIRDs. Given the similarities between different RAIRDs, improving the way we diagnose, treat, and care for people with these conditions across the UK will help thousands of people.

Whilst the study covered just England, with COVID-19 impacting each of the four nations in the UK in a similar way, we believe this study has similar implications for Wales, Scotland and Northern Ireland.

What comes next?

Before this research was published, we knew just how difficult the past 9 months have been for people with RAIRDs. This was clear from our ‘Chronic Crisis’ survey and what patients told RAIRDA’s member charities on helplines and online forums. We also know that this research will not make comfortable reading for patients who have already faced months and months of difficult news, and may have experienced first-hand the challenges of shielding, or difficulties accessing care. However, this research is an important step towards making health services and decision-makers give RAIRDs the attention and resources they need.

The research authors now plan to look at to look at death certificate data to determine the cause of deaths and the impact of shielding. This could help health services and clinicians make decisions in the future to better protect patients. The authors also note there is a need to examine the effect of ethnicity, immunosuppression and steroid usage on risks for people with RAIRD.

In the coming months we will be campaigning for the government and health service to make RAIRDs a priority as the health service recovers, and make sure they get the same quality of care which is expected for other life-altering and life-threatening conditions. This is something we will need the support of patients to do, and we hope to share details of how you can support this in the coming months.

The good news is that the last few months have shown how quickly the health services can transform and make progress, whether with changes to processes like introducing remote appointments en masse or rapid advances in treatment, and now vaccinations, for COVID-19. We believe we can make sure future changes and transformations benefit people with RAIRDs. There is some excellent care for RAIRDs in the UK, this too shows that many of the long-term issues which many people with RAIRDs have faced are not inevitable and can be overcome.

Read more on the study from the British Society for Rheumatology here.

The Registration of Complex Rare Diseases Exemplars in Rheumatology (RECORDER) project is a collaboration between the University of Nottingham, and the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) within Public Health England. Read the full study here.

Dr Peter Lanyon, one of research’s authors is a Co-Chair of RAIRDA. The research received funding from RAIRDA member Vasculitis UK.

Sarah’s story: Furlough support was too late to help me

COVID-19 has had a huge impact on people with rare autoimmune rheumatic diseases. Over the next few weeks, we’ll be featuring the stories of people with RAIRDs on our website, showing the dramatic impact the pandemic has had on different areas of people’s lives.

Sarah lives in Hampshire and has been diagnosed with a form of vasculitis. For Sarah, her autoimmune condition caused strokes as well as permanent organ and nerve damage. The immunosuppressant medication she takes to control her vasculitis, combined with issues with her respiratory system from the disease, mean she is ‘extremely clinically vulnerable’ to COVID-19. Before the second lockdown began, and the government formally recognised the need to allow people who were extremely clinically vulnerable to be furloughed, Sarah was forced to leave her job due to her concerns about the virus

“I had a role tutoring English in a secondary school,” Sarah says. “It involved a lot of moving around in busy corridors and teaching pupils from different classes or bubbles.”

“When I went to my doctor with my concerns all they could say to me was: ‘I don’t think this is the right job for you right now.’ Whilst the school tried to do everything they could and were supportive, after a few weeks back at work in September it was just clear that there was still a risk. With cases on the rise, and with a few cases in the school, I made the decision to leave my job.”

“I’m lucky that I’ve got a bit of savings to live on for a short time. However, I’m worried about whether I’ll be able to claim any other financial support like universal credit due to the fact I technically chose to leave my job.”

“Everything people who are at higher risk from COVID-19 have heard since March has told them to take this virus extremely seriously. For example, my GP was told to ask me whether I would like to be resuscitated if I got COVID-19 and became seriously ill. I’m 38 and to be discussing end of life care like that was really shocking. The fact people like me who’ve had to have that kind of conversation were being told they need to go into work, when cases were rising so dramatically, or lose their income was really shocking.”

Whilst the furlough scheme is now available to people who are clinically extremely vulnerable and cannot work from home, in order to access it employees need to have been in work on October 30th meaning that, Sarah, and anyone like her who was forced to leave work before this date will not be able to receive furlough payments.

Additionally, if someone is clinically extremely vulnerable and in work, employers have the choice to place someone on SSP (statutory sick pay) instead of furloughing them. The level of financial support available under SSP is much lower than under the furlough scheme.

During the first lockdown, a small but significant number of people with RAIRDs who were ‘extremely clinically vulnerable’ were placed on SSP rather than being furloughed (See the ‘Employment and Income’ section of our Chronic Crisis report for more details). RAIRDA is concerned if employers could continue to choose to be people on SSP rather than furlough them. The low level of SSP payments will mean that this is, at best, unfair on those who are vulnerable to COVID-19 and could, at worst, force people to choose between their health and their livelihoods.

If you would like to have your own experiences featured in future posts on our website please email rairdauk@gmail.com.