Got some new goodies this week!
It’s sad when you get excited about a new pill holder, but there you are! I really like the colours, and the amount of boxes there are to split things up. Sometimes I find I don’t take things as often as I could, which then increases pain levels. So having it set out like this will show me if I still have more to take in a day. At the moment I’ve just got paracetamol in there, but got plenty to add. You can take each day out, so you only need to carry one section around with you at a time.
Next are two items to help my neck. The base of my neck burns hot pretty much all the time, probably from inflammation. I picked up this cool pillow pad at a mobility shop, as sometimes it’s so hot I struggle to sleep. I thought this might help, particularly in summer.
Similarly this is designed for the head, but is the right width to wrap around my neck when it’s burning to try and soothe it.
I’ve had a bit of a saga to try and get some orthotics sorted. My first referral was rejected by my GP, with a note it had to come from a consultant. It took me five months to see one, then another three months to get an appointment. So, nine months in total and I’m sitting in the orthotics office, only to say I should have been sent to the hand clinic to see a specialist! Argh! Lucky it didn’t take as long this time, just two months, and I saw them last week. Luckily they had much better ideas than the huge white plastic splint the orthotics departments had suggested – which immobilised my thumb completely.
What I needed was something that allowed my thumb to bend forward, but not backwards so I could still make jewellery. And I also needed something to provide gentle support when it was painful and inflamed. The Occupational Therapist gave me two things – a thumb splint, and some Cobon tape.
The splints are pretty subtle when they’re on, and don’t look so awful as some of them. They allow the forward movement I need, but stops the joint from hyper-extending backwards. When using my jewellery pliers it will still allow me to put the pressure on the wire I need.
So they’re my new gadgets! What do you think? Anything you think I need to buy?
My mum is currently having physiotherapy after an operation on her shoulder. She got chatting to her physiotherapist, and my condition came up – Ehlers-Danlos Syndrome. It turned out that the physiotherapist has a great interest in the condition, has a few patients with it, and leads the in-house training to the other physiotherapists. She invited me to come along to give a talk to them during that session.
So that’s how I ended up pretty much taking over the whole training session myself.
The idea originally was that the physiotherapist would cover the medical and exercise aspects, and I would cover the daily living aspects – but my notes grew longer and longer. This was my chance to help make things better for people with the condition, and there was so much to say!
When you speak to someone with EDS, or other complex chronic conditions you’ll often find that they have had a bad history with a physiotherapist at least once in their past, and sometimes repeatedly. (Here are just two posts talking about previous experiences here and here.) But sometimes it’s not their fault – we are well aware they have to see a lot of people in not a lot of time, and are generally encouraged to discharge as soon as possible. Many report being asked to pick one joint that is the worst, being handed a couple of exercise sheets and that being the extent of their treatment. Others, including myself, saw physiotherapists for years without them ever mentioning the hypermobility – that could have led me to that crucial diagnosis.
While I had a lot I want to say myself, I wanted to let other people with the condition have a say as well.
So I went on to a Facebook group that has over 5000 people with the condition on and asked them what they would like to say to physiotherapists if they could. From that, adding in information about our symptoms, our daily lives, the different types and so on, I built up a talk.
The way their training sessions work is that they have an hour built into the day, and all the physiotherapists who don’t have a patient at that time, come along. She expected around 4 to 5 to attend – but when I arrived I was faced with a very small office filled with around 10 physiotherapists. It wasn’t so long ago I would have immediately turned my chair around, found a toilet and locked myself in it until they all went away, but I’m very lucky that over the past few years I’ve been chairing a meeting group and have greatly gained confidence in public speaking – to a certain extent, I’m not saying I’d be happy to give a speech to a large amount of people, let’s not get silly here.
It also helped I was talking about something I was passionate about – the education of front-line medical professionals.
A few of the topics I spoke about included the difference between Ehlers-Danlos Syndrome, Hypermobility Syndrome and Benign Joint Hypermobility Syndrome. A general overview of how many medical professionals and consultants someone with EDS sees before they get a diagnosis, and the fact that it takes 30% of patients over 10 years to receive a diagnosis of EDS and over 20 years to 50% of patients. I also emphasised the fact that 95% of patients remain undiagnosed or misdiagnosed. I also spoke about which conditions are most commonly diagnosed instead of the correct or underlying cause of EDS, and also gave some tips in what not to do when treating or examining someone with the condition. I particularly emphasised that the condition is extremely variable – and that if we can’t come to a session or a few sessions it doesn’t mean we are uninterested, or lazy – just that it’s not what we are able to do at that moment. And it also depends on which areas of our body are a particular problem at the time, one week an exercise might be fine, but the next week dislocate a joint.
I emphasised to them that the way forward is for more frontline professionals to have an understanding of EDS – particularly GPs and physiotherapists who are often the ones patients see first.
No one expects everyone at those two groups to have full knowledge of the condition, when there are so many conditions out there – but it would be brilliant if when presented with a patient with long-term chronic pain, and hypermobility they referred them onto a specialist. Other things that would help patients is long term care, not just the six sessions that are offered on the NHS before being discharged, and the same thing with hydrotherapy, which should be an on-going treatment, particularly as it can be one of the only treatments that is effective for people with EDS.
They seemed interested, engaged with what I was saying, asked questions, and even asked advice on past cases and whether their care was appropriate (whilst maintaining confidentiality of course). One physiotherapist said that in general physiotherapists like regimented care, i.e. they can pick up a file for a patient that says they are currently doing six reps of exercise 1, and 10 of exercise 2, and so on. Any other physiotherapist could then pick up that folder and continue their care if needed. However when he had a previous patient with EDS he found that it was completely impossible to treat him in this way. One week he could do a decent amount, but the next all he could do is lay on a table whilst the physio mobilised his joints for him. Other sessions he couldn’t even make it to the hospital at all. He said that he had to be really flexible with the patient – which emphasised what I was saying.
I also told them about my previous physiotherapy sessions, where I spent the first session explaining how I might not be able to make every session, I was having a lot of flare ups and spending a lot more time in bed unable to do anything and she seemed really understanding. And then it happened, I had to cancel a session and it turned into a few weeks as it was a really bad flare up, and I called to update her and they said just call back when you’re ready, which I did, only to find that she had discharged me.
I was too exhausted to go back to the beginning, so just went without.
Another physio suggested that on occasions like that it would be helpful for the physiotherapist to visit me at home, but of course I’ve never been offered anything like that. Also when talking about ongoing hydrotherapy, which I have been told previously is impossible due to the waiting list – they informed me they do have a few rolling programmes, including one for paediatrics with hypermobility, and another for people with Rheumatoid Arthritis – so it is possible. I’ve now got the name of the manager, and I’m going to contact her and explain how important it is for this to be put into place – particularly when a lot of us are being told that the ‘land based programmes’, as they call them, are inappropriate for us.
Hydrotherapy, for a lot of people with EDS is very good because the water supports the joints, so dislocations are less, the warmth helps with the spasming muscles and we generally find we can do a lot more in the water. Of course this doesn’t apply to everyone, particularly if they have bad POTs alongside, as the heat can cause havoc with feeling faint and dizzy.
In summary I really enjoyed giving this talk, and have been invited back in July.
Patients talking to medical professionals is the way forward t0 them gaining an understanding to the reality of life with a complex condition, without reading a little paragraph in a textbook.
So I commend the physiotherapist that setting this up, and I hope more will do so in the future.
Have you ever has an opportunity to talk to medical staff in this way? What would you have said?
What is Ehlers-Danlos Syndrome?
Ehlers-Danlos Syndrome is a connective tissue disease, caused by faulty collagen. Collagen is the ‘glue’ of your body and is part of your skin, organs, ligaments, tendons and much more. The condition is multi-systemic, which means it impacts almost all of the body in some way, including the heart, lungs, auto-immune system, gastrointestinal tract, eyes and in lots of different ways that are too numerous to mention. There are different types of the condition, which range from highly disabling, to some types which are even fatal.
The most common type of Ehlers-Danlos Syndrome is Hypermobility type. This is because the most prominent sign is the Hypermobile joints – colloquially known as being ‘double-jointed’. This can occur in any joint, and means the ligaments and tendons aren’t holding the joints in place as they should, and allows the joints to over-extend. This causes damage in the connective tissues surrounding the joints. Joints can also dislocate, or semi-dislocate (subluxate) which is very painful.
As the connective tissue isn’t doing its job, the muscles take over. This means they’re usually tight and in spasm, and overwork which causes additional fatigue.
The condition is genetic and two-thirds of sufferers inherit it from one of their parents. One third get it through a genetic mutation.
How does it impact me on a day-to-day basis?
While I was born with it, the symptoms throughout childhood seemed random, so no one ever realised there was an underlying condition. I had lots of bouts of pain throughout my childhood that doctors dismissed as growing pains, and often my legs or ankles would give way and I’d fall to floor for no reason. My healing was poor and left scars easily. Simple tasks like tying my shoelaces were difficult, I struggled to write for long periods, and my handwriting was awful.
At the age of 15 my pain became constant. I now know this is a very common time to trigger the condition more seriously, but it took almost nine years before a consultant finally stopped shrugging their shoulders at me, and put a name to my condition. For all those years – the years most people are growing up, and having a life – I was getting home from college, or university and collapsing in bed, and spending all my money on alternative therapies to try and get some relief as the doctors couldn’t offer any help.
I have never had a pain-free day for almost twelve years. It’s unrelenting, and even worse is unpredictable. One day I could be limping from my left leg and unable to move my arm, and the next day they’ll be fine but my hip feels like it’s on fire and my neck is locked in place. This is makes it difficult to know what I’ll be able to do that day – and how much help I’ll need.
The condition impacts the auto-immune system and produces too much adrenaline, so I sleep really badly, and have insomnia. The fatigue is crippling, and I often have to spend all day in bed, or unable to function. Often just being able to do a simple task like have a shower, or get dressed is an achievement and all I’ll be able to do that day.
To be able to do something else – like go to a friend’s house, have a meal out or even worse – attend an all-day event is a bit of a nightmare, and involve lots of planning. For days in advance I’d need to rest to conserve my energy, then on the day take every painkiller available, and use every bit of my strength to get through it. Recovery will usually take weeks.
My hypermobile joints are particularly bad in my spine, and so I’ve developed bulging discs, arthritis, degenerative lumbar disease, scoliosis and cysts on my spine due to the over-extension there. As a result my mobility is impacted, and I can only walk with extreme pain, and so use an electric wheelchair.
Why is awareness so important?
The diagnosis rates of the condition are really poor. The average time of diagnosis for sufferers is over ten years, but for many it’s much longer, and some even live their whole lives without knowing what’s wrong with them. Many are also misdiagnosed with other conditions, or told it’s all in their heads. Ehlers-Danlos Syndrome is estimated to affect one in 5000 people in the UK, however according to a recent study, around 95% of cases go undiagnosed or misdiagnosed every year, meaning this figure is in reality much higher.
EDS is treated terribly by the medical community. I wrote a little more about this topic in Rare Disease Day and Ehlers-Danlos Syndrome. In general most doctors spend a few minutes covering the condition in their studies, and so don’t recognise it when they come across patients who are looking for answers. It’s also highly neglected in terms of research, care, NHS services and provision of medical expertise. There are only a couple of specialists in the whole of the UK for the condition, which are usually oversubscribed due to the demand.
There are some quite simple ways of looking out for the condition, so we need to get the word out to front-line medical staff – GPs, nurses, physiotherapists – as well as members of the community, so they can spot the signs as early as possible, and get help for people before they have to live years in pain without understanding why.
If you recognise any of the symptoms mentioned above in yourself, your child or someone you know – particularly hypermobile joints, long-term chronic pain and other unexplained symptoms – please seek further medical advice, and request to see a specialist as soon as possible.
The Awareness Ribbon for EDS features a Zebra Print. This is from the phrase taught in medical schools – “When you hear hoofbeats, think horses, not zebras.” This means when presented with a set of symptoms – the most obvious answer is usually a common condition.
EDS adopted the zebra to say – hey, rare conditions exist too!
There are lots of these special ‘days’ – Talk Like a Pirate Day (19th Sept), Hairstyle Appreciation Day (30th April) and National Sandwich Day (3rd Nov) but a really important day for me is Rare Disease Day, which is today.
A disease is defined as a condition that’s abnormal, and affects the body of a living being.
Here are some facts about rare diseases:
- There are over 6000 rare diseases
- A disease is classed as rare if it impacts fewer than 1 in 2000 people
- 30 million people live with a rare disease in Europe
- 80% of rare conditions have a genetic origin
I have Ehlers-Danlos Syndrome, a genetic connective tissue disorder.
There are various types of the condition and the most common type is estimated to impact anywhere from 1 in 5000 to 1 in 10,000 and the least common types have only been diagnosed with a small handful of people.
Rare diseases are neglected – in research, care, NHS services and provision of medical expertise. There is a lack of understanding and awareness in every part of the medical community. But rare doesn’t mean we don’t matter.
While I had mild symptoms from birth, the real trouble started when I was 15 – and it took me another eight and a half years to be able to put a name to my pain, fatigue and countless other symptoms. I’m lucky – many others don’t get diagnosed at all. That’s why recognition is vitally important.
Many seeking answers are instead labelled incorrectly. The word hypochondriac sneaks into their medical notes. They’re told their attitude is too negative, or point-blank informed it’s all in their heads. People with the condition usually look perfectly healthy, which makes it even easier to get dismissed.
Some people don’t live long enough to have the reassurance of knowing they were completely right, and there was a reason they felt the way they do like in this awful story.
Once I knew what was wrong with me, it changed everything. I was able to look for the national charities, find other sufferers and do copious amounts of research. Everyone should be able to do that – and from as near to birth as possible. Simple changes like strengthening your muscles before they become locked in a cycle of spasms, wearing orthotics to protect flat feet and looking out for the myriad of complications that can arise from the condition can make a big difference.
Awareness for rare conditions isn’t the same as for many other conditions. To me it can be summed up in the conversation that usually goes,
“So what’s wrong with you?”
And the response is a blank face.
I don’t expect people to know specifics – but if you said to someone you had MS, they’d probably at least gather it’s quite debilitating without having to try to explain further.
While that may not feel so bad – imagine that lack of recognition continues with your GP, your rheumatologist, physiotherapist – the people meant to be supporting your care, as well as everyone else. You have to spell the words out to them carefully, and they promise they’ll look it up – but yet the next time you see them they’re none the wiser, and you know they forgot to pop it into google. We deserve better, and it makes you feel very alone.
When I was diagnosed I spent an hour with the specialist consultant. He was the first person who nodded when I mentioned symptoms, and pointed out a lot I hadn’t even realised were significant. He literally started from when I was born onwards, and put together a pattern that led to my diagnosis.
However, an hour isn’t enough -not when you’ve just been diagnosed with a condition that impacts 95% of your entire body. Every organ, every joint. No one talked me through the heart issues, the gastrointestinal problems, bladder, muscle tone, nervous system, eye sight, breathing issues , and the terrible sleeping problems. No one told me that while you’re given a ‘type’ within the condition – there’s lots of overlap, and it’s mostly just guess work.
To this day I’m still finding new information, and putting facts together – and I usually find that out from other people with the condition, not a medical professional.
So this is what I want from Rare Disease Day…
I want every medical professional to have a brief understanding of the condition, and realise it’s only rare because they aren’t spotting all the undiagnosed people with it. Professor Grahame, a Ehlers-Danlos Syndrome specialist consultant carried out research that suggested “for every one person in England who is diagnosed by a rheumatologist as having hypermobility syndrome, there are probably 19 that aren’t yet diagnosed.” That’s around 85% of cases that are going untreated, being told it’s in their head, or being misdiagnosed. This has to change.
The most common sign of Ehlers-Danlos Syndrome is hypermobile joints – something that should be second nature for GPs/physiotherapists to have a quick look for if someone is presenting with wide-spread pain. I first heard the word hypermobilty from a physiotherapist I was lucky enough to come across. She asked me if I knew I was hypermobile, and I said I didn’t know what she meant. She explained it was also known as being double-jointed, but the only time I’d ever seen people mention that was when people did funny tricks with their hands. My hands looked normal. “Of course you’re hypermobile,” the physiotherapist said to me. “Just look at you, look at your toes, you just are!”
That’s all it takes. One person to have the knowledge. To be able to spot hypermobile joints, to notice the person with pain in every joint that is getting negative results to every test, to the person gesticulating with their hands as they speak, with bruises or injuries they don’t remember getting, that might be a bit clumsy. If you spot just one of those things, just have a think about mentioning Ehlers-Danlos Syndrome and you might change someone’s life.
Most suffers of a chronic illness will tell you how difficult it is to get a diagnosis. The first difficulty is often the doctors, who simply may not know. So many conditions have overlapping symptoms and tests don’t always get to the root cause quickly. Often it takes a doctor that will look at the whole picture, not just run a blood test here and there. I recently heard of a woman whose local doctors wanted to take her thyroid out, believing it to be the cause of her issues. It took a consultant in London who finally ran the correct scans to find out the problem was with her heart, and could be corrected with medication – scans that could have easily been done previously.
Other doctors may be unwilling to commit to a name of condition – perhaps through fear of being incorrect, or other reasons. Some think giving a name of a condition is branding the patient with a ‘label’.
When you’re so unwell it’s impacting your life, the vast majority of people want to know why. They want a to find out what’s wrong with them so they can research their own condition, or join a support group, or simply so when people ask what is wrong with them, they don’t have to shrug and say ‘your guess is as good as mine’.
Woolly symptoms like ‘pain’, ‘fatigue’ (and I’m sure you can name a million of your own) are hard to explain to people, when you’ve cancelling a night out for the fourth time in a row, or taking more sick time from work, or even applying for benefits. Everyone has those symptoms at times, and it’s hard to understand what it’s like when they become an every day occurrence, or never go away. Or when the pain or fatigue become so crushing you can’t function.
Another problem with chronic illnesses is making sure you’ve got the right diagnosis. Due to the aforementioned intersecting symptoms, it can be hard to pin down exactly what’s wrong with you.
For example constant pain, fatigue and cognitive impairment could be down to a virus, or ME, Multiple Sclerosis, Sleep Apnoea, Hypothyroidism, Lyme Disease, Lupus, Fibromyalgia, Depression, the Flu, or something else entirely!
In an ideal world a doctor would come up with a list of everything it could be and then rule each one out with tests. But it isn’t an ideal world, and doctors are often constrained by time, budgets or equipment. Their personal prejudices may come into play. If someone who is slim presented those symptoms, they may take an entirely different approach to someone who is overweight. Many of my grandads’ ailments have been dismissed with ‘it’s your age, it happens to everyone’ and similarly doctors point at my weight as the problem – rather than seeing someone who has put on weight from being unable to exercise and comfort eating due to pain.
If perhaps I’d been listening to when I was ten years old and complained my limbs hurt, and my knees and ankles kept giving way, they would have discovered I was hypermobile, and given me the correct treatment to strengthen my joints. Then it may have been I wouldn’t have developed chronic pain and Fibromyalgia. Or perhaps I was destined for Fibromyalgia no matter how many stretches I had done as a child. I don’t know.
It took me until the age of 23 until I finally saw a Consultant Rheumatologist who spent time thoroughly looking at my history and symptoms to diagnose me with Ehlers-Danlos Syndrome, Fibromyalgia, Myofascial Pain and Postural Orthostatic Tachycardia Syndrome.
I have seen so many other consultants who were dismissive, or shrugged their shoulders. One doctor even said I was Hypermobile, and then a year later forgot he had done so and declared I was fine without reading my history.
Finally, I’d like to point out that many people in England do not realise that they have the right to be seen at any NHS hospital in the country. You do not have to go to the nearest, or the one your GP decides to send you to. If you hear of department in a specific hospital that seems to do a better job than your own – you can choose to go there. You cannot demand you see a specific doctor, however, but you may request to do so. I’ve often found I can see the doctor I’d like by simply waiting longer.
Please keep fighting for your diagnosis if you think something is wrong. Don’t give up.