A shop assistant opened the curtain while I was trying on some trousers, without saying “Excuse me” or ‘Is anyone in there?”. I had left a shopping basket outside the curtain so it was a bit surprising she ignored it. When leaving the changing room, she said: “Sorry, but I didn’t see a wheelchair.” This was a strange thing to say because her colleague had indicated I could use the accessible changing room due to wearing an AirCast boot and being on crutches.
If I didn’t have a foot fracture I wouldn’t use the accessible changing room but I felt I needed to explain why I accepted her colleague’s offer to use it. I tried explaining that there are many kinds of disability, that I fractured my foot and have rheumatoid arthritis and osteoporosis, but didn’t elaborate. It would have been better if she had just apologised rather than referring to the lack of a wheelchair outside the changing room curtain.
Happily, most of my other experiences shopping on crutches have been good ones. People have offered to carry shopping for me around different stores, open doors, help pack bags etc. However, lots of shops still don’t have an accessible entrance, which is actually illegal under the Equality Act 2010, and public transport has a long way to go to get it right. Apart from the one incident, people have been really attentive and helpful, treating me like any other customer. For example, visiting a stately house with a huge garden recently I was able to borrow a wheelchair, and staff pointed out the accessible routes. As 1 in 5 people in the UK have a disability, I think shops and tourist attractions should make more of an effort to be accessible and the behaviour of their staff is just as important – i.e. everyone receives the same standard of service – otherwise people will just take their custom elsewhere.
Her mouth gaped open. “But you’re too young to have osteoporosis, aren’t you?” We were sitting at the bus stop and a fellow passenger had asked what happened to my leg. Just nine months after my last foot fracture, I have broken the same toe (but luckily in a different place).
Since people are naturally curious, I don’t mind explaining that I’ve fractured a toe. They normally look incredulous that a broken toe joint means wearing a huge AirCast boot all the way up the knee. That’s when, depending on my energy levels, I explain that I have osteoporosis. If they ask more questions, I’ll tell them about the rheumatoid arthritis and Ehlers-Danlos Syndrome too. But sometimes, as I found before, it’s exhausting running through the same story time and again, so I’ll say “It’s a long story.” There are two reasons people look amazed – firstly, the notion that osteoporosis only affects older people, and secondly, that it’s possible to sustain a fracture without having an accident.
A few days ago I went to a support group for people with osteoporosis. We had a very good session on mindfulness. I found the practical guided exercise useful – being in the present moment, becoming more alert to things and stepping out of negative thoughts (about my body, pain levels etc). I liked the idea that ‘thoughts are like clouds; you are the blue sky and the clouds are going past’ – it is a great way to cultivate more positive feelings about a situation. Most of all, mindfulness is about experiencing the current time, not reminiscing about the past or planning the future. I’ve used these techniques before but it is much easier with a group. The challenge is to incorporate the practice into each day and to start to feel more in control of the situation (i.e. the foot fracture) than I did before.
In 1993 when I was diagnosed with Ehlers-Danlos Syndrome as a child, hardly anyone had heard of it. Now I find more health professionals know about it, although not necessarily in detail. I always explain how hypermobility Ehlers-Danlos Syndrome is not the same as hypermobility. I have met health professionals who think they are the same, but they are not. Here’s why.
Lots of people have hypermobile joints and might describe themselves as double-jointed, but with Hypermobility EDS (formerly known as EDS Type 3) it can affect the whole body. Fragile and stretchy skin, loose unstable joints that can sublux and disclocate, and brain fog and fatigue are just some of the symptoms. I bruise my skin very easily and can identify every scar on my body – from falling over and gouging a hole in my knee as a child which left a keloid scar, to the scratch from a rose bush on my arm last year, to the raised scar left from the BCG injection I had as a teenager, to the raised purplish-red surgical scars on both feet from operations aged 9. Just some examples – there are more!
Slow healing is also something that affects me. If I damage my skin in any way (it tears very easily) it will take ages to heal. Having a regular blood test usually results in a bruise. Urinary problems are now part of the mix and apparently they’re likely to be EDS-related. A barium meal showed that I have ‘dysmotility of the oesophagus’ – or in plain English, I have trouble swallowing either food or water. Chronic, widespread joint pain has always been an issue, particularly after walking or any kind of physical exertion like swimming. I need to have regular naps as a result.
One of the most crucial aspects of Hypermobility EDS (for me) is that local anaesthetic is not effective. At the dentist, I need three lots of anaesthetic before I can’t feel pain. I even had to stop a foot surgeon slicing into my left foot because I could feel the knife going in. It was the worst pain ever, I was crying out in agony and had to squeeze the hand of a nurse in the operating theatre to stop myself from screaming. Upsettingly, I had told the surgeon in advance that I would need more anaesthetic but he hadn’t listened. Time and time again, this has happened. When I needed a laryngoscopy (where a thin tube called a laryngoscope is used to examine the throat – it has a tiny light and lens on the tip and it works like a telescope) -some local anaesthetic was sprayed up both nostrils. I expressed concern that I had not been given enough local. My consultant replied “My three nephews have EDS, it will be fine.” I trusted him but it was a disaster. I was in excruciating pain when he passed the tube through my nose and down my throat as far as my vocal cords and voice box (larynx). My eyes filled with tears which streamed down my cheeks. I couldn’t articulate the extreme pain I was in but he should have stopped when he saw my reaction. It is astonishing that he continued. I was so traumatised by this particular procedure that I have refused to have many procedures under local anaesthetic since, opting for conservative, non-invasive options instead. I really hope that this EDS Awareness Month the medical community will take the time to learn more about Ehlers-Danlos which will improve treatment and management for people living with it day-to-day.
What a month! Number of medical appointments: 13, not including blood tests. Seeing specialists covering osteoporosis, rheumatology, dentistry, urology, podiatry, chest physiotherapy. Not forgetting fracture clinic and the GP. No wonder some people have asked if I work at the hospital! Now I have another specialist to add to the mix: the haematologist. It turns out that my neutrophils (a type of white blood cell) are consistently lower than they should be. I’m trying not to think about it too much but it is a bit worrying. This may well be linked to taking a biologic drug (Enbrel) for rheumatoid arthritis, as when I’ve had to come off this medication (e.g. during a chest infection) my neutrophil level has gone back up. It’s a matter of waiting and seeing at the moment. Sometimes it feels like I’m on a continuous loop of investigations and tests. It would be good to step off that conveyer belt for one week!
On a positive note, a recent MRI showed that the fracture in my right foot is healing gradually. After two months in an aircast boot and on crutches, I’m getting around a bit more easily. As I said before, it’s amazing how talkative people are when you’re wearing an aircast boot. It does look rather dramatic – as if I’ve broken my leg rather than one bone. Every day people regale me with their story of breaking a bone or without asking how I sustained the injury. Most of the time I don’t mind – but sometimes it can be exhausting – so then I just smile and say ‘long story’. In the early days, around three people a day thought I’d been skiing! The healing process does take longer – thanks to osteoporosis and Ehlers-Danlos syndrome. I can’t wait for the boot to be off in a few weeks’ time and celebrating afterwards!
Enbrel is definitely working. I can’t believe it. My rheumatologist performed another ultrasound on my hands two days ago and said it was the best so far. The rheumatoid arthritis was the least active she had ever seen it. Inflammation and synovitis in my hands have reduced and the erosions have not worsened. Last time she saw me, she asked me to consider Rituximab because the RA was so active, but I insisted on continuing with Enbrel. Although I started on Enbrel in January 2014, treatment has been interrupted by regular chest infections and low neutrophils, which both led to short intervals without the drug.
When I’ve had to come off Enbrel for just one or two weeks I really notice the difference. My joints stiffen up, I need a hand getting out of a chair or the bath, and my fatigue is all-encompassing. Not being on treatment makes me feel low and every simple task (e.g. opening jars) becomes harder.
Even though the scans show my RA is less active while taking Enbrel, I still have stiff and swollen fingers, extreme fatigue and painful joints. Some of these symptoms (fatigue and painful joints) overlap with Ehlers-Danlos Syndrome, so it is hard to know how much is RA and how much is EDS. Another reason I have pain in my hands and shoulders is from using crutches while I have a fractured foot (probably caused by my osteoporosis). We agreed that I need to stay on Enbrel for as much as possible to give it a chance to have maximum effect (i.e. only take antibiotics and stop taking it when the bronchiectasis is at its worst). The good news is remission feels within reach, more than ever before.
The podiatrist knew there was something wrong with my right foot immediately. It was hot to the touch, skin reddish, and swollen both on top and on the sole of the foot. My foot had been painful for some weeks but I attributed it to normal EDS and RA joint pain. Some days were worse than others. I started limping and regularly felt a stabbing, burning pain searing into my foot when walking.
So I was relieved to have an appointment with the podiatrist. They were going to fit my shoes with new, custom-made insoles. In the end, that didn’t happen. The podiatrist insisted on the rheumatologist assessing my foot straightaway. An x-ray followed which showed a fracture on my 3rd toe of the right foot. Looking at the x-ray was upsetting. Even though I had the evidence in front of me, I still couldn’t quite believe it. Nothing dramatic had happened. I had not been walking more than usual.
Now my foot is strapped up inside an AirBoot for 6-12 weeks and I have to use crutches. The rheumatologist said that I could be ‘partially weight bearing’ which makes a bit less daunting to get around, but it is still hard work on my arms and shoulders with the muscle wastage from RA. One cause for the foot fracture could be osteoporosis. Despite taking weekly osteoporosis medication and vitamin D daily, I have also torn two ribs. Balancing keeping active with minimising the risk of future fractures is going to be hard. It would be useful to know what more I could do to prevent more broken bones. Who wants to feel (or be treated) like a china doll? On the positive side, it’s amazing how many people offer me a seat now that my invisible conditions are seen as a visible disability. People chat to me everywhere – on public transport, at bus stops, in shops, in the road trying to get from A to B (slowly). A foot fracture is a minor setback for a few months but I don’t intend to let the fracture stop me living life to the full.
Rare Disease Day was last week. As someone with a rare disease (Ehlers-Danlos Syndrome), I decided to attend a Rare Disease Day event hosted by Rare Disease UK on Wednesday 26th February at the House of Commons. Speakers included Liz Kendall MP (Shadow Minister for Care and Older People) and Earl Howe (the Minister with responsibility for rare diseases). Other speakers were Fiona Marley (Head of Specialist Services at NHS England) and Alastair Kent OBE, Chair of Rare Disease UK. and Director of Genetic Alliance UK.
Although the words ‘rare disease’ suggest that rare diseases are uncommon, around 3 million people in the UK have a rare disease. Liz Kendall MP said that business, society and public services need to work together on rare disease issues. She issued a call to action to people standing in the room: “You must challenge and demand from us better results and support”. She continued: “Your voices must be heard, not just the most powerful”. This was an important point to make – that care should be patient-centred.
Earl Howe, Minster for rare diseases, said that the past year has seen some important steps, referencing Genomics England’s work sequencing thousands of genomes. The 100,000 Genomes Project (owned and funded by the Department of Health) is sequencing 100,000 whole genomes from NHS patients by 2017. They are focusing on patients with a rare disease and their families and patients with cancer. Earl Howe said that so far, 2,200 families have been recruited and out of the 100,000 genomes, more than 15,000 will be sequenced from rare disease patients. Earl Howe mentioned that NHS England is establishing 11 new genome medicine centres which will engage with patients taking part in the 100,000 Genomes project. Other initiatives he talked about included a National Disease Register – which aims to collect data on every single person with a rare disease in England.
Fiona Marley, Assistant Head of Specialised Services for NHS England, spoke about the 145 specialist centres for people with rare diseases in England. Crucially, she said that current NHS England research focused on the experience of people with rare diseases should lead to an improvement in the quality of their lives, i.e. the results will inform future services and support offered. Alastair Kent OBE, Chair of Rare Disease UK (RDUK), also spoke at the event but unfortunately I didn’t manage to capture what he said. Looking back on the event, it was exciting to hear about so many projects related to rare diseases. I never realised that there is a rare diseases advisory group within NHS England for example! There is even a UK Strategy for Rare Diseases (published in 2013). This time next year it will be interesting to see how much more progress has been achieved (in terms of awareness and support) for people with rare diseases.