June 23, 2016 at 8:02 am #1017Nici32Participant
Hi EDS- Community,
I recently got my EDS- diagnosis by skin biopsy. Now I am really confused. :-(( Clinically the doctors diagnosed me with classical EDS. Now, the skin biopsy result is very indifferent. It shows some signs of the hypermobile, classical and even the vascular EDS !!! They were not able to fit me correctly in one of the types. The doctors recommended to make a genetical testing to exclude (I hope so!) type 4.
Well, it seems that I have a little bit of everything, but no full expression. Before the biopsy was done, the doctors told me how concrete the results of the skin biopsy usually are. Well, mine are not. 🙁 Now it will be a hard fight for me with my insurance to get the genetical testing paid. 🙁
It is so hard to get a proper diagnosis (damn!). But I think most of you know these fights. Is there anyone out there who has/ had the same problem like me, that the result of the skin biopsy was not exact? Is this a typical result? Does this mean I have the vascular form,or not?What did you do? What did your genetical testing show? The doctors told me that I do not look like the vascular type (My aorta is fine/ I never had cardiovascular problems/ no thin skin…), some of my family members also seem to have EDS and no one died very early due to vascular complications up to now. I am confused!
NiciJune 27, 2016 at 9:09 pm #5970Dr. DianaKeymaster
I’m one of those, Nici! In most cases, we do not have vascular EDS (I would think you would show the signs if you did, honestly). I have a suspicion that SOME aspect of connective tissue is affected, but no one can know with certainty what is affected (elastin, collagen, fibrillin, microfibrillin, tenascin X, etc). Genetic tests are currently unable to differentiate, but our skin biopsies show something is amiss with the connective tissue. I think *most* of us fall into this group.July 2, 2016 at 3:31 am #5975Nici32Participant
Hi Dr. Diana,
thanks a lot for your reply. Yes, it is really difficult to get a proper diagnosis. I seem to be a mixture of different connective tissue disorders.I have marfanoid signs and crossover EDS signs. Now I am fighting for genetical testing. Ten years ago I was tested for Marfan Syndrome and Loeys- Dietz syndrome. The tests came back negative. I will see what the test says now. How was it with you? Did they find any genetical defects? You are diagnosed with the classical EDS- type, aren`t you?
Have a nice weekend!
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