Saturday, 28 May 2011

Ehlers Danlos Syndrome Diagnosis

Wednesday 18th May 2011, 09.00 am. Waiting room in the genetics clinic with my little boy, specifically the Ehlers Danlos Syndrome diagnostic clinic. A date that I will always remember. It was early. There was one other person in the waiting area. It turned out he was a Doctor. Didn't seem to know where he was going, so I presumed he was a locum. Not ours though. Little man and I saw the specialist along with the genetic counsellor.

For the past year following a tentative diagnosis of EDS by little mans paediatric consultant I've been adamant that it also answered a lot of questions in relation to my own health issues as well as his.

Wednesday 18th May I had that confirmed. I was given the official diagnosis of Hypermobile Ehlers Danlos Syndrome and little man has inherited this from me.

Ironically enough, May is Ehlers Danlos awareness month, so I can tell you a little about this syndrome and what it means to my little man and I.

Ehlers Danlos is a connective tissue disorder where your body creates defective collagen.

Collagen is required for every part of your body, internally and externally. Depending on the defective part of the gene depends on the type of syndrome you have and how you will be effected.

For me, I have generalised hypermobilty. My joints stretch more than they should. Therefore in return, my joints hurt more than they should. My body generally hurts from trying to hold itself together. The two other main symptoms that I struggle with are; fatigue and migraines. Other than those three things, there are a multitude of things to cope with but they are bearable.

Between us we have been referred to three different hospitals for further tests and support. We have to have our hearts tested, we both have to see a rhuematologist and I have to have a tilt table test for symptoms that could suggest Postural orthostatic tachycardia syndrome.

It's a strange feeling having the diagnosis. It's one thing to think you have it, but another altogether to be told you definitely do have it. It's going to take some adjusting to but I know we can do it.

You will find further information on Ehlers Danlos syndrome on the UK Ehlers Danlos Support Group and the US Ehlers Danlos National Foundation 


  1. Rebecca, I don't have any words of wisdom. I only even know about this condition since I looked it up after one of your earlier posts. I haven't been following you for very long but you come across as a determined and strong woman. Just remember to be kind to yourself too. Lean on others if you need to :)

    Thinking of you and your son. Best wishes x

  2. Rebecca - Thank you for sharing your story. I give you and your son so much credit for dealing on a daily basis with something most of us couldn't imagine. My best wishes to you and your son...

  3. Acquiring a diagnosis is such a difficult time. I'm sure you'll deal with it in the same courageous way you have dealt with the uncertainty went before it. The only line which worries me in your post is the very small phrase 'little man has inherited this from me', which is tagged on to the end of one of your paragraphs. I do hope I'm reading too much into that, because guilt is a very destructive force. xxx

  4. Been thinking about you, Rebecca, wondering how it went. I'm glad you shared your story. My position is very much like Sarah's - I've become aware of Ehlers Danlos since you talked about it. I see you as a strong woman too. All the best to you and your little man. x

  5. Hi Rebecca

    Wanted to echo Jo's thoughts. I have suffered with a hiatus hernia all my life, and I'm sure I'll have serious problems with my oesophagus as I get older because of it. I can see my 4yo has similar symptoms. I'm not going to get a diagnosis - there's no point, and the testing is vile. But I felt guilt that she'd inherited something unpleasant from me when we first realised. That guilt's gone now, and is replaced with a sort of feeling of kinship and empathy for her - something special she and I share that I don't share with the others.


  6. Can I point you in the direction of my best friend, Rachel? Just last week she and her sister were diagnosed with Ethlers Danlos Syndrome and I know that it would really help her to speak to a fellow sufferer. She was also diagnosed with POTS a few weeks ago, so your post read like I was talking to her.

    Hugs to you and Little Man.

  7. Hi Rebecca,

    I'm the Rachel that Ellie was talking about. I was diagnosed with POTS on 21st Jan 2011 and in a very spooky coincidence was diagnosed with EDS 3 on Wednesday 18th May 2011 at 3pm! My sister recieved the same diagnosis at around the same time 60 miles away.

    From the illustrations on your blog I can see that you are aware of the UK EDS charity and your story sounds familiar. I'm Rach73 on the EDS forum and I think our paths may have crossed.

    Good luck with your tilt table test dinet is an excellent site for all things POTS related and there are many POTS groupd on facebook. I don't know if they told you that you need to fast for 12 hours before the tilt and limit fluids as it can cause you to vomit. I know I did!

    My sister will be having her tilt table test on 21st June, so we are avidly awaiting her results.

    Feel free to contact me anytime our stories seems eerily similar!

    Rach xx

  8. I too don't have any words of wisdom and had never heard of Ehlers Danlos Syndrome until I saw it on your blog and looked it up. Best wishes to both of you - and thanks for your comment on my blog which I tried to reply to but it wouldn't let me! Keep smiling and writing xxx

  9. Thank you for sharing your story. My thoughts and well wishes with you and your son.

    I didn't know anything about this condition and leant from your post.

  10. Having been diagnosed with ehlers danlos over 20 years ago now (where have all the years gone) my daughter received her diagnosis aged 12 years (although we knew really). I understand your words with regard to knowing really and official diagnosis. It changes nothing but everything if that makes sense. A time of transisition, acceptance perhaps for some. Some like the land of blogosphere for support, some like forums. I for a while liked forums but think I sort of got burn out with them but know I could always return. I really do though appreciate the mutual support of fellow bloggers some with EDS some without. Its just good to be able to say 'whatever' and know they understand. With the diagnosis it is sometimes easier to access services that without may have been previously been denied. So if it helps without harping on and on which I have a tendancy to do! I understand these words which you have typed in your post and empathise.

    Take care.

  11. Wow, Rebecca. Thanks so much for sharing this - I had no idea such a condition even existed. I'll be thinking of you and Little Man and wishing you both well.

  12. Sarah - Thank you, I appreciate the comment.

    Margot - Thank you.

    Joanna - You're far too perceptive. I do feel guilty for passing this down. I hope this will lessen as I learn to live with it and see that physio is helpful for him. He's such a sweet boy and I hate to see him in pain or too tired to go out to play. These things are infrequent though and he's a normal little boy who loves to kick a ball around with his mates on the playing field across the road.

    Thank you Astrid. I had never heard of it until my little man's paediatrician mentioned it last year. Since then I have done a lot of reading. Some of it I'm sure, my doctors wish I hadn't!

    Clare - I'm sorry to hear this. I also fully know where you're coming from. I do have the guilt and hope it does ease as you say, but I also feel that extra connection with him. Something we both share and have to deal with together.

    Ellie - Thank you so much! It feels such a lonely road sometimes and finding people who understand is a great help. Thank you for your help with this.

    Rachel - What an odd coincidence. The same day?! It's good that your sister received the same diagnosis. Not good that she has it, but that separate doctors actually recognised it both of you.

    I don't know what to expect from the tilt table yet. I haven't received an appointment through. Out of all the referrals made, my rhuematologist appointment has been the first one to come through. I will look up the POTS sites. Thank you.

    I will also look you up on the forum!

    Thank you Linda. It's alittle known syndrome. In fact it seems that we're lucky if our GP's have even heard of it! I'm quite lucky in that mine has. I will definitely keep on writing :)

    Nas - Thank you for reading and commenting.

    Achelois - Thank you for your comment. I'm sorry to hear you also live with this. Your comment about diagnosis changing nothing but everything rings very much true. I "knew" I had it, but the diagnosis makes it feel more real. I have already noticed that the diagnosis is getting us more access to services as we have several different referrals between us. I think the shock will wear off a little more when we have attended these appointments and have a better understanding of what is in front of us. Thank you again for commenting.

    Thank you Talli. I think I still have much to learn about it, but it will be a steady progression now.

  13. Hi, Rebecca. Thanks for sharing your story, like others I had not heard of this syndrome before. I'm sorry you and your son have to deal with this, but I wish you both all the best. Thinking of you and sending good wishes your way. Take care!

  14. Thank you for your good wishes Julie. I really appreciate them. It's been a testing time.