Current mood:	confused
Entry tags:	health

Overlapping types or mistyped?

Well for a few reasons I am getting curious if I was typed properly.  October of 2003 I was a very clear open and shut case of Hypermobile EDS.  However, this last year I am getting a lot more skin involvement than ever and a few things mentioned lately have left me with a lot of questions, hopefully I can get answers for them.  I am writing this up here first to go over what is confusing me, what I do not understand and just overall confusion.  With looking this up and some of the symptoms seem to make sense but other ones are very confusing as being a premie some of the infant stuff I went through could be from either the EDS or the prematurity. 

Reasons I quetsion my original diagnosis:

Scars:  I never thought I had abnormal scars at all.  My PTists always told me that I had 'ugly' scars and to get a plastic surgeon to close up any incisions I have to have.  Thankfully most of my scars have faded, except one.  It is 2-3ish inches long, about one centimeter across and wrinkly.  I never thought anything about it until I was looking on the EDNF site and followed a link to a typical CEDS scar and it was like its a picture of my knee [http://www.ednf.org/medical/index.php?option=com_content&task=view&id=114&Itemid=65]

Skin: When I was diagnosed I didnt have skin issues, well I had frequent bruising and slower than normal wound healing and very velvety skin.  Well with the weight that I have gained over the last 2.5 - 3 years I have major stretch marks that should not be around and in areas that are not normal with stretch marks (shoulder area, abdomin and up to the lower area of my chest) and they start out as very very dark purple in colour.  Thankfully they are fading but still there.  Over the last few months I have noticed that any cut or scrape has turned into a scar.  I also have one area on my calf that looks like a normal little cut (circular) but it has been there for a year now.

Joints: I beleive the joint involvement in both Hypermobile and Classical are the same.  However I have read that people with classical are able to reducse their dislocations easier than hypermobile people.  Also that low muscle tone and body wide muscle spasms are a part of Classical.  Fatigue is one of the key aspects for Classical as well.

Headaches: I read that CSF leaks are common in Classical that lead to debilitating headaches.  I have never read of headaches in conjunction with Hypermobility unless chiari is present.

Genetics:  My family and Hypermobility has never made sense.  There are about 10 family members that could have it and I am the only one (Dad might have it but as more goes on I question it more).  In Classical, half of the cases are genetic mutations, no hereditary links are found in these 50%.

Questions:

Testing:  The best thing about this is that Classical can be detected through clinical exams!  You do a test (I assume a punch biopsy) and send it to Dr. Byers lab and a few months later you get the results!  However I do need to find out what the actual test is, who can perform it and how much is it going to cost!

Hypotonia: Low muscle tone and weakness.  This shows in infancy and I definitly had this but was it because I was a premie or because I potentially have CEDS?  Most of the specialists I have seen always comment on the muscle tone that I have and I have had numerous tests to see if I had a muscle wasting disorder.

Skin: Obviously I have had the same skin my entire life.  My skin isnt amazingly hyperextensive but it does stretch, I just dont know how much stretching is needed to have this consideration.  Its the entire 'Gary' thing, how much is too much?

Other: I do not have the tumours or spheroids (at least to my knowledge) but also dont really understand what they are and what they look like / feel like.  I dont think I have the tissue fragility that goes with this as I have never had anything prolapse.

 
Arthritis:  I definitly have osteoarthritis in numerous joints.  I have read that that is more common in hypermobility than in classical and dont know if this is a manifestation of classical type.

Current typing: I was typed as a textbook case of Hypermobility.  But looking into all the classical stuff I wonder if I might have classical type, or do I have an overlap of classical and hypermobility?

Concerns

If I do manage to get the test for Classical and it comes back negative, is the doctor going to question if I even have EDS?  I went through so many problems over so many years to get this HEDS diagnosis, I am paranoid that someone is going to come around and tell me that I dont have EDS.  Also, I have read that Classical type is less common than Hypermobility.  If I do get typed as Classical is that going to cause more problems as the main issues I have (with my joints) isnt evident in the 'title' of what I have?  Just so much to think about and research right now.