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.
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.
It’s Invisible Illness Awareness Week 2014 from 8-14 September. This time last year, I wrote about keeping positive. Lots has changed in a year. Anti-TNF treatment (Enbrel) has started to make a difference to my joints by stabilising my existing bone erosions and reducing swelling, stiffness and pain in my joints. But the rollercoaster nature of rheumatoid disease / arthritis means that missing most of my injections over the past month due to illness and antibiotics has reversed this progress. Once again, I’m having a nasty flare, with incredibly swollen and painful wrists. I can’t wait to restart the drug later this week and hopefully see those positive results again. I’m staying positive as much as possible but it is harder to maintain an optimistic outlook when even simple tasks like getting out of bed or the bath are a struggle. Getting back on the medication should improve my quality of life again.
The need for Invisible Illness Awareness Week remains as important as ever. Just yesterday, in a shop, I asked a member of staff about the ‘accessible’ facilities. She said casually, not even noticing my hand splints, ‘Oh, those are for disabled people’. I replied ‘I am disabled, I have rheumatoid arthritis and Ehlers-Danlos Syndrome’. She looked down at my hands, and didn’t seem either apologetic or embarrassed but reluctantly proceeded to show me to a room away from the main shop floor, only reachable by staff with a security pass. What upset me was that she had such a narrow view of disability that she hadn’t stopped to think why I was specifically asking for the ‘accessible’ facilities. Wearing splints sometimes makes people more sympathetic, but mostly elicits stares, although she didn’t even notice! Plus I shouldn’t even have to wear an obvious aid such as splints to make my invisible illnesses visible. What people with invisible illness need is greater awareness and understanding so that when we ask for specific help to make life easier, it is available and offered instinctively, no questions asked.
I had an MRI recently on my hips. There was a choice of either the knees or the hips, as I’d complained about pain in both areas to my rheumatologist. I chose the hips, because they’d been painful for longer. Results showed that the cartilage in the hip sockets is ‘frayed’. This explains the agonising pain I’ve been experiencing for the past few months. It turns out that my hip joints go into the sockets at a different angle than other people. Why? Because of Ehlers-Danlos Syndrome, a genetic connective tissue disorder. My worst fear had been that the pain was due to rheumatoid disease/arthritis, so I should be relieved. The news came as a real surprise. It seems that erosive joint damage caused by RD only affects my hands and wrists at the moment, which is not what I’d expected at all. However, it does confirm that Ehlers-Danlos Syndrome is arguably just as serious for me as rheumatoid disease.
How can I prevent my hips deteriorating? Physiotherapy is the suggested way forward, as surgery is always the last resort where EDS is concerned. Poor healing skin and excessive bleeding are two reasons why I’m reluctant to choose surgery. Another reason is previous operations on my feet have not been entirely successful. Perhaps all the training I did for the fundraising ‘Superhero 5km walk’ several months ago contributed to this problem. On the other hand, it could have happened anyway. At least I know what it is and what to do about it which is all that matters.
Ehlers-Danlos Syndrome is a ‘hidden’ genetic connective tissue condition. I covered it in January this year but EDS Awareness Month is the right time to talk about it again. There are 7 different types. I was diagnosed with Hypermobility Ehlers-Danlos (formerly known as EDS Type 3) aged 15 by a geneticist. Features which led to diagnosis included very soft, velvety skin, which bruises easily; poor wound healing; ineffective local anaesthetic (needing 3 doses before I can’t feel pain); very hypermobile joints (being able to bend elbows backwards, knees hyper-extending when standing), muscle pain and muscle fatigue. By 15, I’d already had operations on both feet and 5 teeth removed due to overcrowding. The defect in my collagen means that some simple things that people take for granted, such as swallowing, are more difficult. It’s hard to think of an area of my body that hasn’t been affected by having Ehlers-Danlos Syndrome.
How do I manage these symptoms? Physiotherapy, getting lots of rest and having regular naps, and wearing splints all help. A medical corset helps ‘stabilise my core’ because my torso can get ‘floppy’. My chronic fatigue and muscle pain is due to EDS and Rheumatoid Disease (RA) – a ‘double whammy’. Enbrel (rheumatoid arthritis medication) and Actonel (osteoporosis treatment) have started to make a difference to my joints from the inside; hydrotherapy and physiotherapy have helped strengthen them. Pacing is my new mantra – spacing out activities to get more done rather than trying to do everything in one day.