Ehlers-Danlos Support UK
1,572 members503 posts

Diagnosis Advice (First post ever!)

Hi everyone!

So I have been reading posts on here for a good couple of months and have finally decided to get up the courage to ask for your collective wisdom. Basically, I am wondering whether it is worth me trying to see Dr Hakim or Dr Kazkaz in London. I know others on here have had great success after seeing them and I colleague of mine has also recommended it to me (she has hEDS). If you have done this, how did you go about it? Did you go privately? If so how much did it cost? And were you able to go back to the NHS having got a diagnosis?

Some background:

WARNING this is a LONG background, but I thought it would be best to explain everything so you know the full story.

I have always been told how flexible I am by people since I was a child. I have always been aware of how unstable my ankles and wrists were but it didn't bother me too much as it didn't cause me any pain. After having appendicitis at the end of my first year at uni I really struggled with fatigue and didn't really recover for a good 2 years. Even though CFS was discussed with my GP at this time it was never officially diagnosed as my GP said I just needed to "get on with it".

I first started this journey of trying to get some answers and improve my quality of life about 2 years ago, at the time I was having recurring digestive issues (low-level constant diarrhea etc) and mild joint pain. The GP did a blood test and noted I had an extremely raised CRP. A month after this I got severe campylobacter food poisoning, which now all my symptoms are being blamed on even though this started before this happened. When my digestive issues didn't subside as expected and my joint pain/instability got to the point where I couldn't walk 100m down the road I was sent to a hospital and got a rushed appointment to see a gastroenterologist. The current theory was I probably had some form of Inflammatory Bowel Disease and this was what was causing my joint pain too. I had a colonoscopy to investigate and it came back totally clear with no evidence of IBD. The gastroenterologist diagnosed post infectious irritable bowel syndrome and told my GP the joint issues must be a separate issue. I have been seeing a dietician to try to improve my symptoms, which has helped to some degree but not solved the problem at all, in fact, it is basically at the level it was at before I had the food poisoning.

A year ago I was given a referral to a rheumatologist. By this time my joint symptoms were slightly better and have stayed at this level since. I can walk short distances without too much difficulty but am considerably less mobile than I should be for a "normal" 24 year old. Writing and typing causes me issues in my hands, my back is constantly aching and I get frequent subluxations of my ankles, knees, hips, shoulders and wrists.

The rheumatologist looked at all my joints on my first appointment and stated I scored 9/9 on the Beighton scale. So I definitely had "hypermobility" but she didn't think this explained the extreme pain I seemed to be getting. Her initial theory was rheumatoid arthritis. She redid the blood tests, which confirmed my CRP was still elevated but had gone down from where it was 2 years ago (and not at a level that would cause investigation anymore) but the test for rheumatoid arthritis was negative. Drawing a blank on what to look for now she did an MRI of my spine to see if that gave any insight. It also came back clean. Lastly, she did an ultrasound of my wrists, which again came back clean. At this point, she decided to draw the line and that I "just" had hypermobility. To solve this she said it will get better with age as I get stiff, I should exercise more to try to lose some more weight and that the rest I had to take due to the issues I had 2 years ago due to the food poisoning and reactive arthritis meant my muscles were weaker and that my joints were not supported enough by them.

The result is she has referred me for physio and told me to continue taking paracetamol (I take it almost every day). The diagnosis she has given is "hypermobility with previous reactive arthritis - now settled".

Extra info:

I have a number of other symptoms that led me to consider EDS, which were thrown out by my rheumatologist as unrelated. These were:

My skin is very fragile (Sometimes the top layer of my skin just comes off and scabs and I have no idea what happened)

It takes a considerable length of time for my skin to heal and when it does it usually leaves a scar

I bruise really easily

I have varicose veins

I get tiny blisters (approximately 2mm wide) on my skin (mainly my hands) that appear out of nowhere and then burst. They take at least 2 weeks to heal (even though they are so small)

I have low blood pressure and feel dizzy when I bend over

I have severe IBS that is not responding to the usual treatments

Sorry for such a long post! ANY advice you can give me would be sooooo appreciated!! Thanks :)

3 Replies
oldestnewest

Hi Nknsutton. I am sorry to read of your suffering, but I can absolutely relate to your symptoms. I have now been diagnosed with hypermobility EDS and so has my son - you can read my posts which explain our journey to diagnosis by Dr Hakim at the private London hospital- we are both now in the process of having other investigations, and await to see consultants for various body systems on the NHS..

I spent 12 years seeing Doctors and various consultants. I received different diagnosis that were retracted later. Different specialists gave me different labels and some diagnosed other conditions, but none offered any help. During the years My health declined greatly. I was frequently ill, in pain and disability increased. Yet GP's, rheumatologists, neurologists had no answers and I was left to rot.. It was important for me to find some answers for my 'mystery symptoms' that incapacitated me.I felt by knowing, that this would give me a a chance and a way to get some quality of life back...So I did my own research, began piecing things together. I recognised my son and I had similar symptoms and some that were the same.

A rheumatologist I saw told me 'hypermobility' but despite my ill health and numerous symptoms,and a dropped foot due to tendonitis, tenosynovitis that would not heal, she discharged me!...I have since learned that EDS is not diagnosed by a general rheumatologist. This is usually done by a specialist or a geneticist..A general rheumatologist is often also not able to recognise the severity of hypermobility symptoms and the impact this has on the body and overall health..

With the information I had gathered and the research I had done, I decided that after years of being sent in all the wrong directions, I would go privately to see the specialist of my choice. I also did not want my son to have this condition go undiagnosed. He was due to have surgery and I was aware safeguards needed to be put in place..Other body systems can also be affected that may need treatment. Dizziness upon standing and other symptoms can be a sign of POTS potsuk.org which is associated with EDS.

If you decide to see Dr Hakim you can ask your GP to refer you and send your test results etc. Although you should prepare your own medical history, collect consultant letters and list your symptoms. Along with a family history. An EDS diagnosis is made based on a family connection. Hypermobility spectrum disorder can be made in the absence of a family connection of EDS. After a diagnosis -which you usually receive at the consultation- you will receive a diagnostic letter stating recommendations of treatment and any other referrals you may need.These can be done on the NHS if you choose,The hour consultation with Dr Hakim costs £300 but Dr Hakim is very generous with his time.

If you need any further info please ask. We are all happy to help..Good luck and best wishes 🙂 xx

Reply

Hi,

sounds to me like they may well be missing the obvious. My advice is not to accept it ( I had 25 years of incorrect diagnoses from GPs) and do what Tillyray suggests. If you look elsewhere on this site there is a new book which describes the condition in great detail.

2 likes
Reply

You definitely have EDS. Your history is very much like my husband's and everyone has agreed on his diagnosis for a decade now. I still cannot believe that some doctors seem to have no idea about Ehlers Danlos.

Xx.

1 like
Reply

You may also like...