Welcome to the latest in our series of informational blogs looking at healthcare in general and specific medical conditions in particular.  Today we are focussing our attention on a genetic condition called Ehlers-Danlos syndrome.

Affecting around 1 in 5,000 people, Ehlers-Danlos syndrome (or EDS) causes your collagen production to be lower than in the average person.  Collagen is a protein the main function of which is to strengthen various body tissues such as blood vessels, skin and bone.

So, typically, a person with EDS will suffer from symptoms such as:-

a)  Loose or sagging skin.  This means that the skin can split more easily.

b) Hypermobility or loose joints. Therefore your joints move more than in an average person without EDS.  Children may take longer to begin to walk with EDS because of certain floppiness.

c)  Vascular problems.  This can lead to bursting organs which may be fatal.  While rare it is the most serious symptom of EDS.

d)Fragile body tissue.  This causes people with EDS to be more likely to have overstretched or even broken ligaments.

e) Pain.  In some cases people with EDS will suffer from limb or joint pain.

As with all our blog posts we are really interested in feedback from our readers especially those who have Ehlers-Danlos syndrome.  It would be really useful to get an overview of life with Ehlers-Danlos syndrome.  This is useful for other people with Ehlers-Danlos syndrome but also parents of children who have just been diagnosed with Ehlers-Danlos syndrome.

A few issues about the condition that struck me as worth mentioning, were pointed out to me by a person with Ehlers-Danlos syndrome whom I spoke with about EDS.  She explained to me exercise is important in building up strength and she recommended swimming.  You may find a previous article we wrote on low impact exercise of interest – https://patienttalk.org/exercise-for-people-with-chronic-pain/.

She also mentioned that children with Ehlers-Danlos syndrome will often wear pads to product themselves during play sessions.

In terms of lifestyle and work activities like hard manual labor are not really possible.   As there is a high probability of fatigue, good rest and sleep patterns are considered important.

So over to you!  It would be great if people with Ehlers-Danlos syndrome could share their experiences to help us raise knowledge and awareness of this genetic condition.   If you could share your answers to the following questions that would be really helpful:-

1)At what age were you diagnosed with Ehlers-Danlos syndrome?

2)What have been your main symptoms?

3)What treatments for Ehlers-Danlos syndrome have you used?  How effective were they?

4)What impact has Ehlers-Danlos syndrome had upon your lifestyle?

5)Where did you go for support and information about Ehlers-Danlos syndrome?

6)What one piece of advice would you give to somebody who has just been diagnosed with Ehlers-Danlos syndrome? (Or indeed the parent of a child just diagnosed with Ehlers-Danlos syndrome!)

Obviously this is just a guide – so please share anything that may be of interest to other readers.  In particular links to any organisations, blogs or online groups would be very gratefully received.

Many thanks in advance.

 

HMSWarrior	EDS patients do not have LESS collegen – we have the same amount as anyone else. Our collegen is however FAULTY. As there are a GREAT many pieces of misinformation travelling the net about EDS (also known as HMS or JHMS), it is extremely important to get the facts right. The statistics are also wrong – the current belief is that JHMS is chronically underdiagnosed due to lack of information within the medical world, and it is in fact believed that 1 person in 100 is actually symptomatic but very few realise their symptoms are indicative of a systemic condition. The statistics of 1 in 5000 are only those who have actually been diagnosed by one of the very few doctors that know of the condition and what to look for. While it is great that more and more people are starting to talk about the condition, it is desperately important that the correct things are said. for example, in this last week there has been a lot of hype about an article on ITV’s This Morning, where a doctor dismissed Hypermobility as something that should not stop children from taking part in school P.E. Many people have complained and an apology has been issued. However, the doctor was technically correct as HYPERMOBILITY is NOT the same as Hypermobility SYNDROME. Hypermobility is a no symptomatic condition that sees joints over extend without causing injury or pain. It becomes the Syndrome when pain and injury become serious and /or chronic, and in those circumstances, children should and must be excused from PE. I was diagnosed with HMS at age 29. I work in the private medical sector and as such have been well placed to do a large amount of research into the condition, both for our patients, and for my own benefit as the NHS has done nothing but make my condition worse in their efforts to treat me. The biggest problem we currently have is people not understanding the importance of the terminology, which is why it’s so important to explain everything in boring detail!
bwena64	I was diagnosed in my 40s. I have always had flat feet, easily sprained wrists and ankles, hyper-mobile joints, easy bruising, velvet skin, and lots of stretch marks. As I have gotten older I have developed a lot of pain in my joints, especially hands, hips and knees. I have severe back pain and fatigue.
DanaDeissler	I was diagnosed in my early 20s with type III. Earliest symptoms when I was young were pain with running, joint hypermobility – tricks for friends with limbs bending, etc. Later that became knee, ankle, wrist, back pain; multiple sessions of PT  for various joints, shattering my tibial plateau while @ same time tearing ACL, PCL, & both meniscii making trauma surgery necessary along w/ 13 weeks of nonweight bearing & 5 mos of PT then 8 yrs later requiring knee replacement in same knee. Need TKR IN other knee due to early degeneration/no cartilage left. Pain is a constant but exercising regularly, not giving in to pain to stay in bed (just take it easier during workouts on high pain days), & keeping a healthy weight has been my salvation. Anti-inflammatory foods, cherries, pineapple, helps as well. Stomach issues- hiatal hernia, gastritis, GERD, IBS so I can’t do NSAIDs. TMJ. Flat feet, duck footed, gait issues. Both of my kid’s were born early due to ligaments not supporting and water breaking early. Now vision issues due to collagen deficit. I’m only in my 40s and some days I feel like I’m 95.
StacyHaas	I wasn’t officially diagnosed until my mid twenties, when I was a child the said I had JHS(joint hypermobility syndrome) then when I was 16 I had an ER dr talk to me about how he thought I had EDS. I have flar feet, when I learnd to walk the first year of walking I spent on my tip toes because of this. They started giving me tylelnol with codine when I was an infant/toddler in my bottle due to the amount of pain I was in. My main symptoms were chronic pain, joint stuffness and discomfort, and frequent dislocations. They thought I had anything from MS to cerebral palsy. Swimming is an effective exercise though I haven’t done it in years. When u dislocated a major joint, physical therapy is uber important to gain strength back in those ligaments. And pain management, though hard, is also key in fighting this illness
mommax5	My daughter was diagnosed at age 3 at the time her feet were flat and turned in and her joints hypermobile we did therapy at the time and I didnt understand completely why. Now at age six she has sublaxs alot im shoulders she can do her knees as well but her shoulder is very very loose and slips alot. Her feet roll in and knees buckle back and she too is in pain. We do sports sometimes she makes it thru the practice but I’ve also seen her fall out in pain. The exercise is to build the muscle up to better hold the joint in place.
JeniferRosenberg	I have hypermobility type EDS. I wasn’t diagnosed until recently (in my 30’s) because most doctors do not know about EDS. I have had trouble with excessive bruising, extreme joint pain, and hypermobility my entire life. I regularly dislocate all major joints as well as my ribs, jaw, and back. I once tore my rotator cuff merely by turning a doorknob. There are days when I can not walk. Many doctors do not recognize the amount of pain that goes along with EDS. I am in severe pain most of the time. I have a prescription for an NSAID, and it does nothing. Some low-impact exercise is helpful for building up the muscles around joints, but the pain associated with exercise and the accompanying fatigue make it very taxing. I have early onset arthritis. So do several young children in my family. My son has EDS, and he needed an IEP at school because the joint pain in his hands was so severe he couldn’t hold a pencil. My pregnancies were very fragile. I am prone to collapsing veins, and I have extreme difficulties with scar tissue that tears open. Sutures that dissolve for most people do not dissolve for many who have EDS. We tend to look younger than our age on the outside because of the soft skin, but our internal bodies are effectively much older. If you have been diagnosed with EDS, gather all of the information you can and bring it with you whenever you see a new doctor. If a doctor tries to tell you that you do not have pain from this condition, find a doctor who knows what they are doing. This condition is extremely debilitating. I often have as many as a dozen dislocations a day, and there are no days when I don’t have dislocations. I live in pain, and I look “normal” – it is important to get a medical alert bracelet so that you can show people (on public transportation, etc) that you need a seat. I have had tendons, cartilage, and organs tear when forced to stand on a bus because people refused to offer a seat when asked. I have had a woman punch me on the bus when I was sitting in front because she decided that I did not look disabled. Other people, some family members, and most doctors will NOT acknowledge this condition. Awareness is key, so it is imperative that you bring information with you wherever you go.
nelpet	I just want to point out that the skin usually is NOT loose or strechy for the most common type of ERzs; the hypermobility type and also that pain is more common than not having it…also, not really clear on where to leave the and answers to the questions above?
JamieAnn1	There are multiple types of EDS and many are from faulty collagen (only some are from less collagen.) It’s also notable that the major manifestation is usually dislocations and sublaxations and chronic joint pain, not merely hypermobility. More accurate information is available here: http://www.ednf.org/what-eds