Daisy, Young Healthwatch volunteer, writes the second blog about the rare disease, Ehlers-Danlos Syndrome

Classical Ehlers-Danlos Syndrome

Hello everyone, it’s Daisy again. This is the second blog in the series about Ehlers-Danlos syndrome. I am going to explain a little bit about the symptoms of each type to raise awareness. Unfortunately, many people have to wait years to be diagnosed, as many doctors do not know about the condition and symptoms are overlooked, hence why it is important to know the symptoms, and why I am writing this blog.

I am going to focus on Classical Ehlers-Danlos Syndrome (cEDS) for this blog. The symptoms of cEDS vary, but some of them are:

  • Smooth, velvety skin that is very stretchy and bruises easily
  • Abnormal wound healing (scars often look a bit like cigarette paper, and are quite thin, or they may be wide atrophic scars)
  • Joint hypermobility
  • Hypotonia
  • Delayed motor development
  • Cardiovascular abnormalities such as mitral valve prolapse or an enlargement of the aorta (the largest blood vessel in the body)

People with Classical Ehlers-Danlos Syndrome have quite distinct facial features. Here is a photo of people with Classical Ehlers-Danlos Syndrome and you can see they have similar eyes:

Classical Ehlers-Danlos Syndrome

cEDS is diagnosed based on signs and symptoms, though it should be confirmed through genetic testing. Genetic testing is not routinely offered within the NHS so it can be difficult. Sometimes, people get diagnosed with another type of EDS, as they haven’t had genetic testing. This leads to misdiagnosis and differences in treatment.

Diagnosis of EDS is important as there are some precautions that are needed when you access medical treatment. For example, sometimes people with Ehlers-Danlos syndrome respond differently to anaesthetics, or they are at an increased risk for other related conditions such as Postural Orthostatic Tachycardia Syndrome, and Mast Cell Activation Syndrome.

Although diagnosis is important, it must be stressed that there is no cure for Ehlers-Danlos Syndrome. To put it simply, it is a mutation in a person’s genes, and you can’t fix the gene. However, management of the condition can help on a day-to-day basis. For example, occupational therapy to make your home more accessible, physiotherapy to help strengthen muscles to support your joints, and medications can be prescribed for joint pain.

In the next blog, I will be speaking about the type of Ehlers-Danlos Syndrome I have, which is Hypermobile Ehlers-Danlos Syndrome (hEDS).