But you don’t look sick…

I’ve been wanting to start this blog for quite sometime now but not really had the guts to do it. Not many people in my life know that I have been dealing with a Chronic Illness since I was nine years old. It’s something that I have never really spoken about, not even to my family, because I don’t like to seem ‘difficult’ or, honestly, for people to know that I am different. 

Elhers Danlos Syndrome is a group of rare inherited genetic conditions that affect the collagen cells in your connective tissue in your body. Collagen is what makes up all the connective tissue in the body it provides support in the skin, tendons, ligaments, blood vessels, internal organs and bones. It is a TNX deficiency which regulates both the structure and stability of elastic fibres and organises collagen fibrils in the extra-cellular matrix (ECM), impacting the rigidity or elasticity of virtually every cell in the body. 

Let’s put this into context: If you build a house with faulty materials, say half the necessary wood or with soft aluminium nails, it is certain there will be problems. Some problems will be more likely to show up than others, but because those materials were used everywhere and are not visible, meaning you can be surprised by where a problem shows up or how serious it is.

It can make you hate the body you have and make you literally fall apart at any point of the day without reason. It takes years to diagnose (8 in my case) and you still aren’t fully believed, not even by medical professionals. This can make you feel crazy, depressed, and question everything that has happened to you. But because I have an invisible illness I’m supposed to carry on like nothing is happening to me. To be honest dealing with that every single day – I think that makes us with chronic illnesses pretty f***ing badass.

This has been my reality for my whole life, its something you are born with, meaning that you don’t know what it is like to not be in pain. Imagine just for a second what that would be like, then triple it – this is what I deal with on a daily basis. Some days, the hair on my scalp hurts, my teeth in my gums bleed for no reason and I wake up with pulled muscles because I moved too much in my sleep. If I have a day where I can sit comfortably while I’m at work and can get through it without popping a few painkillers – I call it a win.

After countless hours spent in the doctors office and hospitals. I was finally diagnosed with two types of Elhers Danlos Syndrome. There are currently 13 defined types of EDS some common, others rare. I have hEDS (Hypermobility Elhers Danlos Syndrome, previously know as type III) a common type, as well as cEDStype I (Classical Elhers Danlos Syndrome) which is a rare type. You’re probably reading this thinking ‘this all sounds pretty similar’ but although they are the same syndrome the genes involved are slightly different:  

  1. Hypermobility Elhers Danlos Syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Other cases may result from new (de novo) mutations in the gene. This is what occurred in me as I have no history of the disorder in their family.
  2. Classical Elhers Danlos Syndrome: people with this condition have mutations in COL5A1 or COL5A2, two genes which encode type V collagen.

Now I’ve confused you with the technical terms for what is wrong with me, you’re probably wondering ‘what does that mean?‘ ‘how does that affect you?‘:

  • Smooth, velvety skin that is highly elastic (stretchy) and bruises easily.
  • Abnormal wound healing that may result in wide, atrophic scars (flat and/or depressed scars). 
  • Joint hypermobility that leads to frequent dislocations and subluxations. 
  • Subcutaneous spheroids (fat-containing cysts that are often found on the forearms and/or shins). 
  • Hypotonia (Decreased or low muscle tone. This can cause the person to seem “floppy” and not be able to move as well as expected). 
  • Delayed motor development.
  • Pregnancy may be complicated by premature rupture of membranes. 
  • Chronic pain may be widespread or it may be limited to one area of the body such as a limb. Headaches and gastrointestinal discomfort can occur as well as joint, muscle and nerve pain.
  • Chronic fatigue is common in EDS: poor sleep quality, chronic pain, the body becoming used to inactivity, problems associated with standing (fainting, low blood pressure or fast heart rate), digestive system issues (being unable to take up enough nutrients from food), night time urination, anxiety and/or depression, headaches/migraines.

This is just a handful of what I have to live with but there are over 89 symptoms of Classical Elhers Danlos Syndrome (not to mention Hypermobility Elhers Danlos Syndrome) – so as you can imagine, these conditions effect my day to day life pretty heavily.

As frustrating as it is having EDS is not one but 2 forms, the thing I have learnt the most after these 10 years of diagnosis is to listen to my body. At first when I was diagnosed, I was in denial not wanting to admit to myself that I had something as scary as a ‘chronic illness’ at 15 years old. By ignoring it, I punished myself and probably made it a lot harder to manage as I’ve got older.

However, now at the age of 25, I understand that I have to look after myself. If I need to rest, I rest. If I need to go to the doctors, I go. If I have to leave an event early, I’ll leave. I’m no longer embarrassed by the thought that my body works differently and stops me from doing things that healthy people can do. Acceptance in these situations is the best thing you can do for yourself, as you can start to look for ways to help yourself and how others can help around you. I feel that now finally after 10 years of diagnosis I feel brave enough to talk about my illness and educate people on something they probably wouldn’t have heard of otherwise.

5 thoughts on “But you don’t look sick…”

  1. So well written, I feel like you’re speaking right to me. I’m still in the process of getting diagnosed, they’ve diagnosed me with hEDS but haven’t taken the plunge to see a geneticist yet. It’s so hard finding the right doctors and the right people to help. And when we suffer in silence it’s hard to be there for each other. Thanks for sharing and I look forward to hearing more!

    Liked by 1 person

    1. Thanks so much Melanie, I’m glad you enjoyed it. I agree its very difficult finding the correct doctors and to be honest I’m still trying to find one that will take it seriously. I hope that you are coping well now you have been diagnosed with hEDS and thanks for reading! ✌🏼


  2. I am currently in the process of sorting out which form of EDS I have… an appointment with a geneticist one state over from my home is lingering. In addition to EDS, I have also been diagnosed with mast cell activation syndrome and postural orthostatic tachycardia syndrome, which seem to run together as a sort of trio all caused by the same genetic mutation. Thanks for sharing and letting us all know that we’re not alone!!

    Liked by 1 person

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