If you’re new to this medical condition then I hope you find this to be a good and easy to read introduction. Please note that there are many more posts coming which I hope will go into more detail and include the experiences of other EDS patients.
Elhers-Danlos Syndrome is a widely varied collection of connective tissue disorders. Connective tissue provides support, strength and elasticity to the body, but in EDS the collagen in the connective tissue is faulty and usually too stretchy.
Connective tissue is everywhere in the body;
the joints, ligaments, skin, organs …
EDS is a genetic/inherited condition. If you have it, then you were born with it. You cannot catch or randomly develop EDS later in life. Most people with EDS will suffer from their condition either from a young age or later in their life.
Now, I’m not going into the massive range of major and minor symptoms which patients can present with because it’s way too long for this post. I will however create another post about it later and place the link here. What I will say is, patients can present with a combination of symptoms, or even just one, and then after a period of time (even as short as six months) present with different symptoms. This is why sufferers can be diagnosed incorrectly for years! Doctors can completely overlook the links but in their defence, it’s just really freaking complex.
Before 1997 there were 10 recognised types of EDS which were then reduced into six major types, I will include the old numeral types (e.g. Type 2) when possible because they are still used by some people.
Currently there are six different types of EDS and patients can suffer from symptoms in one category or overlap into more than one:
Hypermobility (Type 3): Is the most common form of EDS and roughly affects 1 in 5,000-10,000. Joint instability and hypermobility, and chronic musculoskeletal and joint pain are the most common symptoms of this type. Recurring joint subluxations and dislocations are common occurrences. As I understand it this is the only type who’s faulty gene has not yet been discovered and so can not be tested for with genetic testing. Hypermobility is when you can move your joints past the normal range of movement, it’s nickname is ‘double jointed’, and this is because the ligaments are too flexible. It can cause dislocations often because the ligaments are so loose they can’t keep the bones in their proper place. When your ligaments are this flexible your body structure is weak and causes pain in the joints. It also causes pain in the muscles because they are having to overwork (taking part of the job of the ligaments to provide body support) to keep the body upright and/or moving which causes muscle fatigue and often muscle tightening to compensate for the ligament weakness which leads to cramps and spasms. The simple movement of just walking can cause an adrenalin rush in order to keep the body going. With so many adrenalin rushes through out the day it’s very easy to become fatigued and exhausted from little activity. There are many other symptoms and related conditions that can affect someone with Hypermobility and we will go into those in later posts.
Classical (Type 1 & 2): Stretchy skin from mild to severe skin involvement. This type affects approximately 1 in 20,000-50,000 people.
Vascular (Type 4): This type affects approximately 1 in 100,000-250,000 people and is considered one the of the more serious forms of EDS. In this form, the organs and blood vessels are very fragile and can unexpectedly rupture. About 25% with this type develop serious health problems by age 20 and more than 80 percent develop life-threatening problems by age 40.
Kyphoscoliosis (Type 6): This type is very rare and fewer than 60 cases have been reported. People affected with this type of EDS usually portray a progressive curvature of the spine (scoliosis), fragile eyes and severe muscle weakness.
Arthochalasis (Type 7a & 7b): This type is also very rare with about 30 cases reported. People affected by this type possess very loose joints and dislocations involving both hips.
Dermatosparaxis (Type 7c): Extremely rare with about 10 cases reported. This type is characterised by extremely fragile and sagging skin.
There are many other types of EDS which are not classified above and can present with a range of symptoms over any of the classifications above or completely different types of genes. ‘Complicated!’EDS Types References: http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome
Q. My friend suffers from Hypermobility Syndrome but I’m hypermobile too and I feel fine so is she really in that much pain?
A. There are so many people who are hypermobile (meaning they are very flexible beyond normal range), but if they don’t suffer from the symptoms then they do not have EDS or HMS (Hypermobility Syndrome). There are some people with EDS who don’t suffer from the symptoms enough to go to the doctor or do anything about it, and can live relatively normal lives with little discomfort.
Q.My brother has EDS but he also has a lot of other things wrong with him too, are they related?
A. It’s extremely common to have other illnesses that are often synonymous with EDS. The most common I can think of right now are Chronic Fatigue Syndrome, Fibromyalgia, Chiari Malformation, Early Onset Arthritis, Postural Orthostatic Tachycardia Syndrome (POTS), Flat feet, Migraines… that’s not even all the most common, just the ones I remember my support group friends talking about the most.
Q. I tried one of my friend’s painkillers (naughty!) and it nearly knocked me out. My friend takes so many medications, do you think they are too addicted to get the right effect any more?
A. First of all, most patients are ‘dependent’ on their medication and being ‘dependent’ or ‘addicted’, though similar, are two different things. If you want to know the difference just Google: addiction versus dependence. In most cases it’s better to live with less pain than with more pain if possible, I’m sure you would agree. Especially if it gives you the ability to do everyday tasks such as getting out of bed and brushing your teeth. Believe me, without painkillers the vortex of excruciating pain can make you want to kill yourself.
Now, patients will often find a combination of drugs that works for them (though it often takes time to find the balance) but more often than not, will have to ‘mix it up’ every once in a while because they can naturally build an intolerance to their effects. Also remember that some sufferers experience the side effects way more than the medication actually helps and so may not be able to take the same combination of medication that someone else with similar problems are able to take.
Additionally EDS sufferers tend to have a natural resistance to medications such as painkillers. I’m not sure why but I’ll find out soon.
Another interesting fact is that we often have experience longer healing times, abnormal scar healing, surgical complications because of our fragile skin and tissues, and are often insensitive to local and general anaesthetics. Weird huh? Will have to research this one too!
Q. So when are you going to be cured?
A. Ahh the most depressing question ever. The answer is never. You are born with it and it is incurable. It’s also a progressive disease which means it just keeps getting worse. I have heard rumors about doctors saying that when you pass 60 years you start to feel less pain because the ligaments significantly stiffen but I haven’t ever seen anyone write about that experience yet.
Q. Sometimes you mention Hypermobility and sometimes EDS? I’m confused.
A. Hypermobility is a type of EDS and the one I’m suffering from so that’s why I refer to both. Sometimes when I say EDS, I mean all types. One common symptom all the types seem to present with is being hypermobile though. However there are exceptions and I have heard of a couple of people who are not at all flexible but have EDS. The blog will be more diverse and I’m hoping to have guest posts from people with different types and different symptoms in the future so you can learn more than just my point of view.
Q. Why don’t you look sick?
A. It’s very common for people with EDS to look completely normal (in fact, I look freaking great considering!). It’s the main reason why EDS is classified as an ‘invisible illness’, along with many other illnesses. Because we don’t look sick, it can often lead to friends, co-workers and families being unsympathetic and insensitive. So if you’re one of those people, freaking stop it and consider yourself lucky to be able to live your life that way you want. My rant is not finished but I’ll leave you to ponder that point first.
Q. My daughter is determined that she has this illness but none of her doctors have ever diagnosed her as such. Is she a hypochondriac?
A. Sufferers can go years, even decades (very common!), searching for a cause for their chronic pain because doctors often don’t recognise the extremely varying and complex set of symptoms of EDS which can also change or worsen from year to year! Misdiagnosis is extremely common because of this and often sufferers will go through a variety of pain stages throughout the month/year/their life. It’s just really tricky and it’s suspected that there are many people who will continue to be misdiagnosed until our doctors are better educated in suspecting rare diseases. You also have to remember that doctors are just people like us. Most don’t really have more ‘brainpower’ or memory retention than any of us so over time will forget less common illnesses and are trained to look for the most obvious so that doesn’t help.
The best thing you can do, if you have the kindness to help, is to research with your loved one if they need it and be supportive. Why would you not take them seriously, especially of someone who is obviously in pain? It’s just common decency, isn’t it… yes *nods*… you know it is.
If your someone new to this condition please throw your questions at me. I’m writing from a point of view of someone who already knows this stuff and could really use your help!
I hope this has helped you and thank you for reading! *hugs*