Wednesday, January 28, 2009

Here are the Medical Characteristics of Classic EDS!

The Classic Type:

Major diagnostic criteria
Hyperextensibility of the skin
Widened atrophic scars
Joint hypermobility
Can lead to osteoarthritis in the 3rd or 4th decade
Other features
Poor wound healing
½ of affected individuals are delivered up to 1 month premature due to premature rupture of fetal membranes
Some have cardiac abnormalities
Mitral valve prolapse
Aortic root dilation with occasional rupture
Pes planus (flatfoot)
Molluscoid pseudotumors (calcified hematomas) may be associated with scars
Autosomal dominant single-gene disorder
A major cause is mutations in type V collagen
At least 3 loci are involved
Biochemical Defects
Thickened collagen fibrils in skin as well as "cauliflower" deformities of collagen fibrils
Mutations in COL5A1 and COL5A2 have been seen in some families
No biochemical or molecular based testing methods have been devised to provide reliable results

Sounds very yucky really, however my case is classed as "mild" even though I have many of these characteristics.

Love Rowena

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In The Beginning!

If my beautiful Mother had one thing to describe finally being pregnant with me, it was this...."I was beside myself". She had waited 7 years and I finally arrived. If only she knew the amount of hospital visits, doctor visits and worry I had in store for her.
You see it all come out in 'the wash' the day my mother took me to her regular plunket visit. The Plunket Nurse had said to my mother "It seems very strange that your child has these bruises". I had finger prints all over my small frame from just my mother picking me up for some love. She went on the tell my mother that she would need to discuss this with someone else. Well that someone else was Social Services and my mother again was 'beside herself', she still refers to it as "The Worst Day of Her Life!" They asked a myriad or questions and all my mother could say was "I waited 7 years to have her". You see I have 2 older sisters and obviously the lack of EDS in them meant they never had bruises, so they left satisfied with my mother crying. Mum then made a speedy doctors appointed.
Good old Dr Greenfield and I would become 'Kindred Spirits', but the day my mother took me to him was the start of many hospital visits. Dr Greenfield contacted Auckland Hospital and Dr Gluckman was to be the man who discovered what I had. He took one look at me and within a moment of pulling at my velveteen skin he told the nurse...."We've got one, don't tell anyone, we've got an Ehlerlos Danlos Syndrome in New Zealand!" I was the first one and I believe I appear in some dusty medical journals somewhere in a Medical Library in Auckland.
Well you can imagine my Mothers reactions, it wasn't of worry at this point, it was of great relief that she was not a 'child beater' and you guessed it, she marched back to the Plunket Rooms in Howick, waving the piece of paper of evidence, 'SHE DID NOT HURT HER BABY'. Then the truth sunk in, no ones life was going to be straight forward anymore.
37 years ago there was hardly any medical knowledge of EDS but this is not the case today. However, saying that still doesn't prepare myself or my gorgeous son the freedom to have an accident, go see a doctor, say my EDS speel and for every single doctor to stare back at me with the "What the hell are you talking about" face. Once you begin to explain it, they will then use the "Yes it looks like I am listening to you...but I'm not".
I really wanted to start this Blog just to say that "I am here"! I am living EDS everyday, I have Classic EDS (Type 2) and it is not all 'doom and gloom' like you see on 'youtube'! It's okay living with EDS, it can be painful, annoying and just a pain, but I don't know anything different, so this is my life and it's a lovely one!
Love Rowena
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