On Monday the Genetic Counsellor called me and we spent almost an hour talking and me being asked questions ready for my appointment on Wednesday.
Then yesterday I had my appointment with the EDS Diagnostic Centre in Sheffield. I went there as I was referred my my rheumatologist to be tested for a form of Ehlers-Danlos Syndrome known as Vascular Ehlers-Danlos Syndrome (vEDS). Fact: there are 13 subtypes of EDS.
The journey went well and we arrived in plenty of time and thankfully with Sheffield only being a couple of hours away I didn't need to be up mega early like I do for my appointments in London.
Whilst I was in the waiting room a lady came out to me to ask me some questions like my height and weight and consent for pictures to be taken if needed and also to share my information for research and teaching - I'm all for research and education so I was very happy to consent.
At 2pm I went into my appointment with the Dr and Genetic Counsellor and the Dr asked me some further questions in addition to the questions the Genetic Counsellor asked me over the phone.
The Dr then did a physical exam looking at my joints and also my veins to look at my how hypermobile I was and also to look for features of vEDS such as bruising, prominent veins and particular facial features.
EDS is a genetic disorder and vEDS can be diagnosed through a genetic test so a sample of blood was taken and when the results are in the Genetic Counsellor will contact me. Hopefully the results will come back clear as vEDS is quite a serious condition to have.
The journey home was also pretty straight forward apart form having a spasm attack down the motor way which was a bit painful as they usually are but being laid on the stretcher was much more comfortable than if I was sitting in my wheelchair.
Personal views below:
During my consultation I brought up about the unbalanced way EDS, especially hEDS (Hypermobile Ehlers-Danlos Syndrome) is being diagnosed and how some people are diagnosed by their GP who have very little knowledge of EDS and then there's others like myself who go through appointment after appointment with specialists to be assessed for EDS and the Dr totally agreed with me and said that she believes that GP's shouldn't be diagnosing conditions like hEDS as they simply aren't equipped with the proper knowledge to diagnose such a condition.
We went on to discuss how this unbalanced way of diagnosing means that there's people who have been diagnosed by say their GP (especially if you go to your GP and say "look I'm hypermobile, and I've looked it up and I think I have hEDS?") as there's a lot more out there now about EDS which is great but it's leading to people I believe being misdiagnosed or maybe even self-diagnosing (as you can be hypermobile but not have hEDS or HSD (Hypermobility Spectrum Disorder) for instance athlete, dancers and gymnasts) who probably, if they saw a specialist like I have wouldn't actually meet the new criteria for hEDS/HSD. In addition to this, being misdiagnosed with an illness, any illness, can lead to the person taking medications they don't need and other treatments like braces and splints which if they don't really need it will lead to muscle weakness and wastage. Plus it takes a huge toll on the NHS.
GP's need more knowledge and shouldn't;t be diagnosing rare illness, instead they should be referring to specialist for assessment rather and doing the easy (and maybe cheaper thing for the NHS) and diagnosing themselves.
But also now under the new classification there are people living with the old EDS Type 3 (Hypermobile Type) who now under the new classification wouldn't meet the new criteria for hEDS/hypermobile Ehlers-Danlos Syndrome, which again the Dr agreed with me on that.
And having HSD doesn't mean that you're suffering less than those with hEDS. Personally I've noticed recently that it seems to be the 'in thing' to be diagnosed with hEDS? You don't need the label; we are more than out illnesses.
Information on:
Hypermobile EDS and Hypermobile Spectrum Disorder
