Saturday, 4 September 2010

Tick in a box

My thoughts, feelings and actions from Wednesday are disjointed and all over the place,so writing a blog entry about it, that makes any sense, could prove difficult. This morning, however, I am going to give it a bash before I get on with an Open University assignment.

We saw, according to her, one of the top two Ehlers Danlos consultants in the country.

She started by asking a few questions about my sons developmental speed when he was young, etc and then did the hypermobile tests again. She said he was more hypermobile than the original Doctor had stated, and that he scored a 4 maybe a 5 on the Beighton score(he refused to touch the floor, which he can normally do). He is very hypermobile in his knees. She also said I scored higher than the original Doctor said, but didn't tell me what it was. (I was a 3 last time)

She asked me about his chest wall shape (I think you would call it a pigeon chest) asking if it has always been this way. I said it had. She asked if he had trouble breathing when he was born, which I replied, temporarily as he was premature, but a Doctor was in delivery room and he was soon ok. I'm not sure on the relevance of his rib cage shape, but she didn't say anything else. She also didn't mention the veins you can see across his chest.

She said he is a little stretchy around his face, but that is the only place. She asked about scarring from injuries, which he has none and then regarding the hypermobility, she stated he was either a little hypermobile or just a little more flexible than most people and she wasn't comfortable putting him the EDS box.

She said he didn't have Vascular EDS because large joints (his knees) wouldn't factor in that. I queried his leaking capillaries and she said no known case of Vascular EDS has ever presented to her with capillary fragility so she doesn't believe it is a part of the syndrome. He did have some petichae rash for her to see, which she said she could biopsy to look at the capillary walls to see what was causing it, but didn't want to do it that day as it could have come back inconclusive and he would need more of them and she didn't want to scare him off, so she is seeing him in a year. She also said that Doctors all over the country send their biopsy's to them for analysis and that they ask them to tick certain criteria boxes to make sure that the biopsy is warranted.

When I was informed that I was seeing this consultant, the phrase "Ehlers Danlos can be difficult to diagnose" was said, in realtion to the fact that this consultant was more knowledgeable. Yet here was the top consultant, just ticking boxes. Not looking at any wider picture, considering all things, she was just going through the ticky box test as the previous Doctor had done. There is nothing difficult about ticking boxes. I have read so much about this disorder now that I could do the ticky box test! I thought she was bringing a more experienced overview to the consultation, but all she saw when she looked at my child were ticky boxes.

She said he doesn't have EDS but is seeing him again.

I'm unsure about this, it just seems strange he is a little hypermobile, skin stretches around his face, his rib cage is misshaped, and his capillaries leak. (plus he has quite a bit of nausea(he has a comfort bucket rather than a comfort blanket!) and some leg pain)

I'm a "little" hypermobile, I'm having quite a lot of pain in my small joints as well as my hips and my gall bladder was removed as it wasn't emptying properly (could this be eds related?)

I'm worried something is wrong and it's not being picked up, but after a second opinion I suppose I have to let go of it for a year and see what happens then. I have started a diary of sorts for my son now, keeping photo's and lists of things and will keep a close eye on him.

I have also researched on the internet "ehlers danlos" + "capillary fragility" and "ehlers danlos" + "petechiae" both bring back links, recent links, of patients presenting with this as EDS. I have also researched "pigeon chest" and it would appear, that can be caused by a connective tissue disorder.

I will continue reading, gathering information and then assess what I have to do with it, whether that is to wait a year or push harder. I don't want my little boy to have this as I've said before, but he sure as hell is not just a tick in a box.


  1. I'm sorry this was so frustrating.
    I've found that Doctors can have a very different attitude when trying to rule something in/out versus trying to find out what's wrong. It can be very aggravating and almost impossible to get them to shift 'modes.'
    I don't have any advice for you. I'm just sorry that you and your son are going through this.

  2. Yes to the gall bladder thing.

    As for the top consultant, I was not aware there were any female top consultants in EDS (at this particular time) although I know of a couple who are working at it. Also, direct from one of the top EDS consultants who's just retired from NHS work, they don't use the biopsy unless they're particularly worried about VEDS or the diagnosis is really, really unclear. Why? Biopsy is expensive and at best somewhat unreliable.

    Good practice seems to be to hold off on diagnosing very young children as plenty do grow out of their hypermobility. It's thought best to proceed on the basis that the hypermobility needs physio, possible OT etc so gets the preventative help needed during childhood without a label it's impossible to lose at a later date if it turns out to be uncomplicated childhood hypermobility. Formal diagnosis usually gets made around the age of 13 unless there are already formally diagnosed relatives.

    Im my personal, not backed up by any research opinion; boys seem to present with more hypermobile related problems in young childhood but stabilise and do better later. Whereas girls even if obviously hypermobile in early childhood tend to have less issues until puberty hits when the hormones make for much more difficult a time than the boys. That said, it's worth watching your teenage girl for such issues.

    Hope that helps! BendyGirl

  3. I think the hardest thing about EDS is that so little is known (relatively) that ticky boxes seems to be what they fall back on.

    Plus, unlike what doctors seem to believe, EDS can have a huge crossover between types.

    So frustrating.