Bobbi’s Journey With Arthrochalasia EDS

To round off EDS Awareness month for 2016 I have my first ever guest post!

This post is by my amazing friend, the lovely Bobbi of Ring Splints by Zomile who has the rare Arthrochalasia Type of EDS. When EDS is covered in the media it’s usually sufferers with my own type which is the most common form of the syndrome.

Arthrochalasia EDS – My Story

13249466_10157066185330226_1204906323_nI’m Bobbi, I have Ehlers-Danlos type 7 – now called Arthrochalasia Type along with associated conditions and rheumatoid arthritis.
There are believed to be only around 40 confirmed cases of arthrochalasia EDS in the world, which I suppose makes me pretty rare!
Ehlers-Danlos is a connective tissue disorder and there are many types all of which share some complications. The severity of the illness can vary greatly from person to person and type to type.
I have known all my life I suffered with this rare syndrome. When I was born My Mum said she knew I would be trouble, how little did she know! I was born breach like a small package; all parcelled up, arms and legs and head folded in like a ready packaged chicken. My Grandma commented that I looked like a Pekingese dog which sounds funny but actually I had a very tiny little face with big eyes and my skin was so loose and wrinkly it was as if I had skin two sizes too big. It was said at first that I was very overdue, but that quickly turned out not to be the case. I just had the cutis laxa type appearance of wrinkly see-through veiny skin all over my body.

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10 Things EDS Has Taught Me

stock-illustration-27847948-zebra-running-through-the-dustThere are many times I feel like I could happily wish away my EDS, days when I’m in a lot of pain, having a lot of dislocations, or otherwise feeling very much under the weather as a result of its myriad symptoms.
When I think about it more deeply however I realise that without my EDS I would have grown up to be a totally different person! I have had many experiences and learned many things as a result of it that regular folks don’t have.

So, in no particular order, here are ten things EDS has taught me:

  1. There is always a way to do something! EDSers become very good at thinking outside the box in order to find a way to join in with an activity or get somewhere. If you want it badly enough, you will find a way.
  2. To treat my body with the respect it deserves. Rest is pro-active not time wasting! Over-doing it will only lead to a bigger crash later on, pacing is the best way of making sure everything gets done.
  3. I can be who I want to be. Just because I’m disabled doesn’t mean that’s the only label I can ever have.
  4. It’s OK to be different… Using a visible mobility aid or support and braces is a hard thing to get used to, people stare and ask awkward questions as they assume someone my age must have injured themselves – after all they couldn’t possibly be one of those “disableds”!
  5. …and that what other people think of you doesn’t really matter. In the grand scheme of things the only person whose opinion of yourself matters is your own. If you need that cane or wheelchair to help you get about it doesn’t matter what Mrs. Busybody thinks of you what really matters is how much more able you are as a result of using it and how much easier it is to manage your condition. The moment you stop judging other people and forget about other people judging you, you feel so much more free.
  6. I have a voice! And I mean literally not figuratively here. For me I was pretty used to standing out as a 6ft tall marfanoid woman so I had never had to speak loudly to be noticed. When I became a wheelchair user I had to discover an “out-door” voice that I’d never had before as many people seem indifferent to chair users.
  7. Never say never. I thought I would never go back to college or find a way to use my skills, now look at me! I’ve done the former and I’m doing my best at the latter.
  8. I’m stronger than I ever thought. I’ve been through so much! Operations, hospital stays, physiotherapy, all manner of tests, ongoing gastric problems, years of corrective therapy for my feet and yet I’m still here and still fighting.
  9. Who my real friends are. When you’re chronically ill you need your friends more than ever but they seem to magically fall away over the years. Many people just can’t deal with having a sick friend and stop calling or coming over. Your real friends will always be there for you, even at 3am in an emergency.
  10. How to prioritise. In order to get the best out of life I have to prioritise my activities and spread them out, I’ve learnt the hard way that I can’t do everything as much as I want to.

If you have a chronic illness, what things has it taught you?

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The Types of EDS

If you’ve read my page ‘What is EDS?‘ you’ll have learned that there are 7 main types of Ehlers-Danlos. Each type is a distinct disorder and can be traced to a slightly different mutation relating to the production or usage of collagen within the body with the exception of the Hypermobile Type for which the faulty gene has as yet has not been isolated. EDS types “run true” in a family. This means that an individual with Vascular EDS will not normally have a child with Classical Type EDS.
EDS types are defined according to the signs and symptoms that are manifested, in a set of major and minor diagnostic criteria for each type. I have included the table of criteria further down this post.

The seven main types are:

  • Classical (old types I & II)
    This type is distinguished by it’s extensive skin involvement. Marked skin hyperextensibility (stretchy skin), soft velvety texture with widened paper-like scars and joint hypermobility. When all diagnostic criteria are met this type is 90% due to a mutation in type 5 collagen. Some people however have a clinical diagnosis of Classical type and have an as yet unknown gene.
  • Hypermobile (old type III/3)
    The most common form of Ehlers-Danlos, most people with EDS have this type. It’s not actually all that rare but it is very much mis &under-diagnosed.
    Joint hypermobility is the dominant symptom in this type with recurring subluxations and dislocations being common. Skin may have some mild involvement eg. velvety texture and easy bruising but is rarely as stretchy as in the Classical Type. Many patients suffer chronic pain. This type when severe is frequently disabling and can produce milder forms of the symptoms more usually associated with other types.
    dnaNo genetic cause has been located as yet but the syndrome however a small sub-population of less than 10% have been shown to have Tenascin-X deficiency (TNXB gene). Hypermobile Type is inherited following a dominant pattern.
    There is some discussion in the medical community as to whether Joint Hypermobility Syndrome may be a milder form of Hypermobile EDS. I agree that some patients with a JHS diagnosis almost certainly do have EDS but others really do not. They have acquired or bio-mechanical hypermobility meaning the JHS diagnosis is still required. Doctors just need to learn to separate out those with connective tissue problems from those without.
  • Vascular (old type IV/4)
    This is generally regarded as the most serious form of EDS and is the only form of EDS that can affect life expectancy. Arterial/venous and organ fragility is the hallmark of this type and unfortunately many people do not discover that they have it until they suffer a serious rupture or worse. This type often has few outward signs other than extensive bruising after only minor traumas and thin skin which reveals the pattern of the vasculature. Clinicians used to think that Vascular type patients all had a particular look to them but as more people have been diagnosed this has turned out not to be true (information from Dr. Brad Tinkle). This type is caused by mutations on the gene for type 3 collagen.
  • Kyphoscoliosis (old type VI/6)
    This type is marked out by a progressive scoliosis, sufferers are hypermobile and often have extremely low muscle tone from birth which can affect gross motor skills.  This type is the result of a deficiency of lysylhydroxylase (caused by a mutation on the PLOD gene) which is a collagen-modifying enzyme and is inherited in a recessive pattern.
  • Arthrochalasia (old type VIIa&b/7a&b)
    This type is marked out by congenital (at birth) bilateral (both sides) hip dislocation and short stature. Generalised hypermobility with recurrent subluxations and dislocations, scoliosis and skin manifestations.Individuals with this type are very rare, there are less than 50 known cases worldwide, it is caused by mutations to type 1 collagen.
  • Dermatosparaxis (old type VIIc/7c)
    This type is characterised by sagging, redundant skin. The skin is very fragile but wounds heal normally unlike in the Classical Type. Patients bruise very easily. This is another very rare type with not many cases reported worldwide. It is caused by a mutation on the ADAMTS-2 gene which produces pro-collagen peptidase, an enzyme that aids in the processing of type I pro-collagen.
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1997 Villefranche Criteria for EDS

Since the types were last classified at Villefranche in 1997 some more types have been described but their names are not yet official and there are no set diagnostic criteria to help doctors diagnose them.
Examples of these syndromes include progeroid type (B4GALT7 gene), musculocontractural type  (CHST14 gene) and spondylocheirodyplastic type.
Prior to 1997 the types were classified with numbers shown as roman numerals rather than names, some people and doctors still use these old classification numbers.

I hope this post has been helpful in explaining the wide variety of EDS types. Each type can be expressed on a spectrum from mild through to severe. Why some patients are more greatly affected than others is sometimes due to the form of their mutation as in the Vascular type but is usually unknown.

If you have any questions please do pop them in the comments and I’ll do my best to answer them but remember I am just a patient not a doctor or geneticist!

Fibromyalgia & ME/CFS Awareness Day

fibro1smToday my zebra has gone purple as it is the awareness day for fibromyalgia as well as for ME/CFS.
I don’t often talk about the fact that I have a fibromyalgia (or fibro for short) diagnosis as well as my Ehlers-Danlos syndrome but it is actually quite common for people with Hypermobile EDS to get fibro secondary to their EDS.

Secondary fibromyalgia is slightly different from the more well known about primary fibromyalgia. The more common primary fibro has no identifiable cause, whereas secondary fibro does – in my case my EDS. This means I can sometimes foresee a flare as a result of a dislocation or series of dislocations.

What is Fibromyalgia?

Fibro is a chronic and sometimes disabling condition characterised mainly by persistent musculo-skeletal pain with no identifiable cause. Other common symptoms among sufferers include extreme fatigue, brain fog which is sometimes called ‘fibro fog’, muscle spasms and cramps, sleep disturbance, waking up un-refreshed, IBS like symptoms, irritable bladder, headache, a pain response to pressure/touch, and sensory overload.

The causes of fibromyalgia in general are not understood and there are many theories about why it occurs. As secondary fibromyalgia often occurs in those of us with painful conditions such as Ehlers-Danlos, one theory is that the brain becomes so used to the pain messages it receives from frequent injuries that it ‘forgets’ to switch them off again when an injury is gone.

What about ME/CFS?

Today is also the awareness day for ME which stands for myalgic encephalopathy (or myalgic encephalomyelitis) which is also sometimes called Chronic Fatigue Syndrome (CFS).
ME is also a complex chronic condition whose causes are not fully understood. Many of it’s symptoms cross over with those of fibro and PoTS so it’s important that patients get the correct diagnosis. Symptoms include severe fatigue, brain-fog, headache, sore throat & swollen glands, musculo-skeletal pain, un-refreshing sleep, IBS like symptoms, PoTS like symptoms, and sensory overload.

How a particular suffer is affected by either of these invisible conditions varies. Some are only mildly affected are able to care for themselves and manage a relatively normal life with some sick days while others are very severely affected and may be unable to work or even get out of bed without help for long periods.
Both fibro and ME are surprisingly common with fibro affecting as many as 1 in 50 people in the UK (some estimates go as far as to say 1 in 20) and around 250,000 ME sufferers nationwide according to the NHS. Both are common in women for reasons as yet unknown.
In other words, you almost certainly know someone who has one of these chronic but invisible conditions. Yet the causes of them have still not been unravelled and no reliable treatments or cures have been found, some older doctors still refuse to believe the conditions even exist or believe they are psychological in nature.

Invisible Illness

Invisible illness is hard to deal with but some people’s attitudes are worse. Most peoplePurple_ribbon_sm don’t see you at your worst when you’ve collapsed on the sofa in pain or can’t get out of bed because of severe fatigue (I don’t mean just feeling tired, fatigue is a whole other ballgame) and waking up feeling like you’ve never even been to sleep. As they only see you on good days when you’re able to go out and do things they often might not believe you are genuinely sick, that it’s all in your head or think you are making it all up. Dealing with these “but you don’t look sick” people on top of a chronic illness is hard work and many sufferers stop mentioning that they even have it or only tell close friends in order to avoid the stress. Stress is very much something that triggers flare-ups in my own fibro symptoms.

All of these syndromes need more awareness among doctors that they are very real physical illnesses, not psychological, and need better forms of treatment.

Why the Zebra?

You will have noticed the zebras on my blog, maybe you just thought “whoa that girl sure likes zebras!” or maybe you’ve wondered what the connection was between beauty and zebras or ‘bendiness’ (my way of referring to the hypermobility aspect of EDS) and zebras.

Well wonder no more because now I shall explain the connection! People with EDS identify as either ‘bendies’ or ‘zebras’ and the zebra is the EDS mascot because:

stock-illustration-27847948-zebra-running-through-the-dust“When you hear hoofbeats think horses, not zebras”

In America medical school students are often taught this phrase. The phrase is a way of saying that the most common cause of those symptoms is likely the culprit, don’t take bets on diagnosing rare, weird, or wonderful diseases just because you want it to be that. Most of the time this approach works really well, but sometimes a genuine medical zebra comes along and is then misdiagnosed with something common –  even a whole collection of unconnected common ailments – or worse, left completely undiagnosed and untreated.

Through awareness of Ehlers-Danlos we hope that one day doctors will be able to see the signs that they’re no longer in Kansas, but rather out on the plains of the savannah where a zebra is the one most likely to be causing those hoofbeats.

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Zebras exist.