What is EDS?
The Ehlers-Danlos syndromes (EDS) are a group of thirteen individual genetic conditions, all of which affect the body’s connective tissue. Connective tissue lies between other tissues and organs, keeping these separate whilst connecting them, holding everything in place and providing support, like the mortar between bricks. In EDS, a gene mutation causes a certain kind of connective tissue – the kind will depend on the type of EDS but usually a form of collagen – to be fragile and stretchy. This stretchiness can sometimes be seen in the skin of someone with EDS; individuals with the condition may also be able to extend their joints further than is usual – this is known as being hypermobile, bendy or double-jointed. As collagen is present throughout the body, people with EDS tend to experience a broad range of symptoms, most of them less visible than the skin and joint differences.
For many people with Ehlers-Danlos syndrome the journey to diagnosis will have been a long and convoluted one. Poor awareness of the condition amongst medical professionals means that it can go undiagnosed. It is common to be wrongly diagnosed with another condition first in an effort to find answers. Misdiagnoses of fibromyalgia and ME/chronic fatigue syndrome, and the label of irritable bowel syndrome when someone has digestive problems, are common. Typically people will wait years or decades for a diagnosis of EDS, if they get one at all. Yet diagnosis is very important. The Ehlers-Danlos syndromes are genetic and are passed on from parent to child in different ways according to the type in question (some follow a dominant pattern of inheritence, others recessive). A precise diagnosis gives information about the risk of passing the condition on in a family and about prognosis. Diagnosis guides proper management of the syndromes, which includes learning to avoid activities which might cause irreversible joint damage as well as unhelpful treatments such as inappropriate medication. For these reasons the prognosis is likely to be better if someone is diagnosed at a younger age. Many with EDS would also argue that diagnosis is important for psychological reasons, encouraging motivation and acceptance. Most would agree that it’s easier to tackle something when you know what you’re dealing with.
- The diagnostic pathway differs according the type of EDS suspected, with a different route for hEDS/HSD to that for the rare types. This section explores how to go about getting assessed and what to expect.
Living with EDS
- You may feel like you’ve made a breakthrough when you finally get a diagnosis, only to find that you are discharged and there is no-one to oversee your care as would be the case with other illnesses that affect multiple systems of the body. While there is no doubt that this lack of support is unfair, it is perfectly possible – indeed necessary – to learn to effectively manage your condition yourself.
- EDS cannot be ‘cured’ but many people with EDS control it well and live full and active lives. It’s never too late to start managing your condition better and improve your quality of life. Now that you know what is wrong, you are in a better position to deal with it.
- The day-to-day management of EDS is based around the right kind of exercise, physiotherapy and pacing. In addition you should seek referrals for any sister conditions you may have – if there is an overwhelming number of them to deal with then pick the most debilitating few – this could mean being referred on to services such as neurology, gastroenterology, podiatry or a pain management programme.
- It can be a challenge to deal with so many symptoms, at the same time it presents lots of opportunities for improvement as there are many measures out there to be tried which could work for you and better your quality of life.
Conditions linked to EDS
Many other conditions appear to commonly occur alongside the Ehlers-Danlos syndromes, particularly together with hypermobile EDS (hEDS) or the hypermobility spectrum disorders (HSD). Although an association has been demonstrated between hEDS/HSD and most of these problems, there is not yet enough scientific evidence to prove that one issue causes the other; this relationship is one that we may not understand until we find the gene or genes causing hEDS and HSD.
Among the ‘comorbidities’ that might present themselves along with hEDS/HSD are:
- Malfunctioning of the autonomic (involuntary) nervous system (PoTS)
- Gut dysmotility (an abnormality of the involuntary muscle movements that control digestion, which may cause the system to be very sluggish)
- Chronic fatigue
- Small fibre neuropathy (nerve damage causing pain which can be severe, pins and needles, numbness)
- Cervico-cranial instability (complex problems caused by joint instability at the top of the neck)
- Sleep disorders
This is not an exhaustive list. It is important to note that not everyone with hEDS/HSD will have all or any of these problems, but they are possible. This section provides information and management advice on living with the comorbidities.
EDS is something you are born with but symptoms may not manifest themselves until later in life. It is not uncommon for a genetic condition to first become apparent during puberty, alternatively symptoms can be triggered by a trauma, such as a virus, many years down the line. A lot of children with EDS are ‘mild’ and their symptoms might go unnoticed. Sometimes children are severely affected.
Children with hypermobile EDS will be more ‘bendy’ than their peers and this hypermobility can cause problems. Instability of the joints might lead to dislocations or subluxations (partial dislocations), children may suffer from pain, their joints may click, and they may fidget to relieve discomfort. EDS is more than just symptomatic hypermobility, however, as it can affect many functions of the body. A child is likely be prone to injuries, easy bruising and their skin may tear after minimal trauma, with injuries taking longer than usual to heal. They may also have poor stamina, and digestive or bladder issues. In school, they could experience difficuties with writing or sitting for long periods, be fidgety, tire quickly, and have poor concentration. Mobility problems and reduced strength will make carrying heavy bags and books harder. Of course, each child will be affected differently.
The challenge is to meet the needs of the child with EDS without them feeling they have been labelled as different to their peers. It is important that they try to lead as normal a life as possible and are encouraged to participate in physical education and activity, so long as it doesn’t cause undue stress to joints/ligaments or pose a high risk of injury. Swimming, for instance, will be a better choice of exercise than contact sports. If the EDS is severe or if a child has one of the rare types then a school Care Plan will be needed.