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My appointment with an EDS specialist here in the UK is over, and to my astonishment they refused the genetic & skin biopsy testing, based on clinical signs alone.
These were said to be:
1) Lack of hypermobility (and no childhood history of significant/moderate hypermobility)
2) Lack of re-opening wounds or significant scaring
3) Localised skin hyperflexibility (the specialist said it’s not equally bad all over), and I wouldn’t describe it as severe, it was moderately hyperflexible before I got this skinny though so I don’t think losing weight accounts for it.I’m not here to disagree with any of those points, but can anyone tell me if they know somebody who is genetically or objectively diagnosed with any form of EDS who also lacks the features I mentioned, because according to the specialist NOBODY who has an objective diagnosis of EDS has ever lacked those features, she was very adamant about this.
She excluded the hyper-mobility type as well and I walked away without a diagnosis.
I agree you need to find another doctor. I have been to so many doctors in my life time. I could fill a football stadium. Only about ten percent of doctors are good doctors. The rest scooted by in school. Believe me I use to teach residents. Far to many are a doctor for the wrong reason. I am sorry you wasted the time going to a bad one. Find another. Make a list of all your symptoms and those of your family members. After all not everyone with EDS is hyper-mobile or show the hyperlastic skin. Try a dermatologist for the skin biopsy. That is what I had to do. Then they can refer you on to another specialist. Also remember that the skin Bx is not fully diagnostic, but it can help. I wish you all the best. I am new to all this EDS stuff, even though I have been sick and had all the signs all my life. It was me that went and showed my doctors what I can do and what all my life long health issues were. Sad to say but I had to take charge, and I will have to do it for my kids too. One day at a time, and sometimes one hour at a time. Good luck and keep us posted.
Thanks for the replies, it wasn’t an ordinary doctor, it was actually an EDS specialist (one of only two centres in the whole country).
Did either of you get your diagnosis through genetic testing? Which types do you have?
I don’t think another doctor would have much to say, I don’t have any significant hyper mobility.
Thanks for the replies, it wasn’t an ordinary doctor, it was actually an EDS specialist (one of only two centres in the whole country).
Did either of you get your diagnosis through genetic testing? Which types do you have?
I don’t think another doctor would have much to say, I don’t have any significant hyper mobility.
Hi PhoenixDown,
I hate that the doctor did not check for the other types of EDD or some other genetic disorder. Maybe you have types I/II or type IV. Can you order a 23ME test? You can get the test kit online. Maybe that can tell you more info about what genes you carry.
Maybe you have something different than EDS. What are your symptoms? You need to go to different geneticist. The other one was piss poor if they can’t do anything else besides EDS. From what you said it sounds like they did nothing. I had a dermatologist preform a skin biopsy on me it it came back positive for a connective tissue disease. I also went to Dr. Diana’s husband for an eye exam and it showed the abnormal artery to vein ratio and the beading. I also score high on the Brighton scale. I am text book. I am seeing a geneticist soon . I have a lot of over lapping symptoms from multiple types. As Dr. Diana would say I am pretty ill.Sorry I am having trouble with my phone posting.
I second that! Barb is a bundle of knowledge! Can you tell us why YOU think you have EDS? Perhaps we can brain storm with you. Do you have POTS/dysautonomia? I know of one man who has EDS but who didn’t really appear hypermobile. Dr. McDonell (in the states) asked him to put his foot on his forehead,and she looked for hypermobility in other ways. My skin is stretchy in certain places only. That seems pretty common. I know of one family of 5 – 4 of whom are hypermobile and have the EDS diagnosis. The fifth one is not hypermobile — but get this. She develops POTS/dysautonomia just like her other 4 siblings! What is up with that? There is more to this than we understand, certainly! Meanwhile, please share your symptoms/signs with us and we’ll see what we can do! 😉
Dr. Diana,
Isn’t also true that in some families, that they have a unique type of EDS, and it runs true to all affected?
Hi PhoenixDown,
I hate that the doctor did not check for the other types of EDD or some other genetic disorder. Maybe you have types I/II or type IV. Can you order a 23ME test? You can get the test kit online. Maybe that can tell you more info about what genes you carry.
Maybe you have something different than EDS. What are your symptoms? …Lab-Scientist-Lady – I think I can get the 23andME test but would it demonstrate I have a specific disease? Most reviews of 23andME talk about ethnicity, some mentioned things like the MTHFR gene but I’ve tried the supplements associated with correcting/helping this problem and have had no luck.
The specialist ruled out Classical, Vascular, Kyphoscoliosis, and the Hypermobility type based on clinical examination alone, again she was adamant. See another geneticist? It’s not as simple as that I’m afraid, between NHS failures, private practitioners demanding NHS referrals, and me being pretty ill I can’t simply visit a geneticist.
I’m by no means fixated on a diagnosis of EDS, I just want to know what’s wrong and to be able to have objective proof to show people, especially given that I’m house bound (bedroom bound mostly to cut a long story short), and my health is continuing to decline.
Can you tell us why YOU think you have EDS?
I don’t wish to publically list all my “EDS symptoms” but I’m happy to send a comprehensive email to you Dianna.
My questions are: Can I still have CCSVI, a Chiari malformation, or some non-EDS connective tissue disorder that presents a similar set of symptoms to EDS?
The next thing I was thinking about looking into is Mast Cell issues, as I have unusually strong allergic reactions to tiny amounts of dust/mould/unsure.
Dr. Diana,
Isn’t also true that in some families, that they have a unique type of EDS, and it runs true to all affected?It is correct that they type of EDS runs “true” in a family. BUT it can exhibit in so many different ways! This is just one reason I believe doctors are forgetting how we are affected by chemicals — external and ‘self-produced’ — changing the presentation in many of us…
Hi PhoenixDown,
I hate that the doctor did not check for the other types of EDD or some other genetic disorder. Maybe you have types I/II or type IV. Can you order a 23ME test? You can get the test kit online. Maybe that can tell you more info about what genes you carry.
Maybe you have something different than EDS. What are your symptoms? …Lab-Scientist-Lady – I think I can get the 23andME test but would it demonstrate I have a specific disease? Most reviews of 23andME talk about ethnicity, some mentioned things like the MTHFR gene but I’ve tried the supplements associated with correcting/helping this problem and have had no luck.
The specialist ruled out Classical, Vascular, Kyphoscoliosis, and the Hypermobility type based on clinical examination alone, again she was adamant. See another geneticist? It’s not as simple as that I’m afraid, between NHS failures, private practitioners demanding NHS referrals, and me being pretty ill I can’t simply visit a geneticist.
I’m by no means fixated on a diagnosis of EDS, I just want to know what’s wrong and to be able to have objective proof to show people, especially given that I’m house bound (bedroom bound mostly to cut a long story short), and my health is continuing to decline.
Can you tell us why YOU think you have EDS?
I don’t wish to publically list all my “EDS symptoms” but I’m happy to send a comprehensive email to you Dianna.
My questions are: Can I still have CCSVI, a Chiari malformation, or some non-EDS connective tissue disorder that presents a similar set of symptoms to EDS?
The next thing I was thinking about looking into is Mast Cell issues, as I have unusually strong allergic reactions to tiny amounts of dust/mould/unsure.
Hi PhoenixDown,
From what I read the 23ME can tell you your carrier status and likely hood to develop some diseases. It is lacking many disease and conditions, but depending what all you have going on it might help. It works best for those of European descent . It may or may not be useful for you. I have not tried it yet. I believe you can have some of the EDS symptoms and have another disease.. There are several closely related connective tissue diseases. Do an Internet search of each of your symptoms and see where overlaps occur. There is always the possibility that what you have is unique to your family. Do you have family members that share your symptoms? There are reports of isolated types of EDS that are unique to single families. I am so sorry you are bedroom bound. I am having similar issues. I am finally accepting that I will never work again or do other things I love. I am just starting down the long road of filing for disability and all the financial hardships that creates. My medical problems are increasing as well is the cost. It is hard to keep going. Have you tried to read the Driscoll Theory? This is also a website for support and advice maybe it will help. http://www.EDSawareness.com. Can you log on to YouTube? Try searching for people with similar issues. Like search for Mast cell issues, connective tissue disorders, CCSVI, or Chairi One Malformation, etc….Sorry I am not much help. I am still new to all of this. Also, have you seen an Rheumatologist, cardiologist, internal medicine doctor, maybe an allergist, or an Endocrinologist? I am sorry I don’t no much about how it all works in the UK. I went to a rheumatologist to rule out an autoimmune disease. Have you had a MRI of your head and neck? Have they ruled out MS or Myasthenia gravis?Okay PhoenixDown I found a list of differential diagnosis for patients who are suspected to have a connective tissue manifestations. Here they are:
Marfan Syndrome
Loews-Dietz Syndrome
Stickler syndrome
Williams syndrome (WS)
Aarskog-Scott syndrome (faciiogenital dysphasia)
Fragile X syndrome
Achondroplasia and hypochondroplasia
Osteogenesis imperfecta (OI)
Aneuploidies including Down, Turner, Klinefelter syndromesAlso, there are all the other underlying and co-manifestations diseases that go a long with EDS and similar disorders. Like MS, autoimmune, chronic pain and fatigue, features of fibromyalgia, Chiari, bleeding problems, IBS, GERD, osteopenia, POTTS, orthostatic intolerance, adrenocortical insufficiency, celiac disease, malabsorption and other bowel dysfunctions, von Willebrands disease, thrombocytopenia, hypothyroidism, deficiency in vitamins and minerals like D, B12, etc. As you know the list goes on and on…..I hope this helps.
Blessings,Hi PhoenixDown, If you really want a diagnosis and need a second opinion, I would ask Barbara on this forum if she could recommend someone for you. We all grow weary of doctor-shopping (BEEN THERE) and word of mouth is likely your best bet. I’m in the states and don’t know who to recommend for you, but I will say that MUCH is still to be learned about our condition, and even the “specialists” are a bit puzzled. You are not alone in your frustration. :-/
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