Re: Back from seeing Prof Bird

[Guest guest]

That's WONDERFUL, Jo! Now you can get some help! The hospital stay is

probably a good idea - that way it's all done at once, and it will be

documented.

I hope they can ease a lot of the issues you have. You know, Bonnie from this

list is a variant also. You may want to communicate with her!

Please let us know how the shoulder surgery goes - when is that again? And

know you will be in my thoughts and prayers!

Love Lana

[Guest guest]

Jo,

I am extremely happy that all went well for you at your appointment with

Prof. Bird.

Always keep smiling, even if it is upside-down the occasional day.

[Guest guest]

Jo,

I am extremely happy that all went well for you at your appointment with

Prof. Bird.

Always keep smiling, even if it is upside-down the occasional day.

[Guest guest]

Jo,

I am extremely happy that all went well for you at your appointment with

Prof. Bird.

Always keep smiling, even if it is upside-down the occasional day.

[Guest guest]

In a message dated 2/5/04 12:05:28 PM Eastern Standard Time,

sicklizard@... writes:

<< I'm know I'm never going to get

better, but at least now I have a little bit of hope that someone is

willing to help me cope with this and make my quality of life with

this condition as comfortable as possible. >>

I am so happy to hear you have finally gotten some help and know now what you

have! hang in there friend!

Hugs,

Sue G.

[Guest guest]

Jo my friend,

what WONDERFUL news. I am SO HAPPY that you have answers and you

know where the EDS originates from (even if you are a variant (just

HAD to be different didn't you <he he>)), your Mum and Dad probably

feel a little more at ease now that you have a name but remember that

Mum has essentially just been diagnosed as a mild EDS-H herself and

may go througfh a period of adjustment and even blame for her giving

you the gene (here is hoping this DOESN'T happen in any bad way)and

have a diagnoses and an official name goes SUCH a long way. As to the

tests etc , the hospital is a good place as they will be able to

document your bleeding episodes and get there best and brightest to

look at you and look at the FULL extent of the skeletal deformities

etc and you may have more options than the bilateral AK amputations

once you have been seen and poked an prodded and tested all over.

Take the opportunity while in hospital to rest and let other take

over your fears and worries for a week or 2, rest relav, read etc etc.

Sharon xx

> Hi guys,

>

> I've just got back from my appointment from Prof Bird and I'm

> completely exhausted! Gash that was a very long, tense journey due

to

> traffic and flooding problems. It took us ages to get there and to

> find a parking space, so I was really flustered and up tight by the

> time I finally got there. But I needn't have worried as Prof Bird

was

> very understanding and very appreciative that we were able to make

it

> at such short notice. (less than 24 hours!)

>

> Anyway, to the appointment. He was very nice and incredibly

thorough.

> He took my medical history down, asked my entire family history

then

> examined me very thoroughly and even examined my parents for

> hereditary signs too! He noticed things that other people haven't

and

> picked up on things many doctors have dismissed as not of

consequence

> as well. He listened, didn't patronise me and best of all put me at

> ease. I never felt like I had to prove there was something wrong,

he

> just instantly knew and wanted to help find out what it is. He took

> down an awful lot of notes, highlighting many key factors from my

> exam and history and pointed out/asked about a lot of things I'd

> never even considered too. I was very impressed with his attitude

and

> manner and have to say I was pleasantly surprised as I had fully

> expected him to just gloss over my condition and dismiss me like

most

> other doctors have! It was quite a shock to have someone be

genuinely

> interested and concerned for me.

>

> The up shot is that he believes my Mother has a basic

> hypermobilty/mild EDS gene and I always being the adventurous one

> took the genes and ran with them! It appears that I am a mosaic

> mutation, meaning I am the first to manifest a different version of

> EDS in my family - having what he described as probably a Type III

> mutation with Marfaniod factors. He feels that both my skeletal and

> bleeding issues can be attributed to my EDS variant and as such

wants

> me to be assessed by several different departments and have even

more

> tests done (oh joy!). So he wants me to go into the hospital in

Leeds

> for at least a week to have everything done at one time and have a

> full, through assessment so they can get me under some sort of

> control hopefully too. I'm a little freaked out at the idea but

know

> that it makes sense and is necessary. He says he will get me in

> within 4-6 weeks, but that my upcoming shoulder surgery should not

be

> postponed.

>

> All in all I feel pretty satisfied with how things went as it was

> much better than I expected really. It's never nice being told you

> have a mutation of an already rare condition, but having a

diagnosis

> and reason for everything is a big psychological help. I'm not

> looking forward to my week or two of being prodded and poked by

> everyone and his brother, but at least I feel I have made progress

> today. It's like the first step forward have taken in many, many

> years. It makes me angry to think of the years I was being denied

> this help though while my GP was happy to brand me a hypochondriac.

> Oh well, I guess looking back isn't going to help me now, so here's

> too looking forward and hopefully making more steps towards some

> management and relief at long last. I'm know I'm never going to get

> better, but at least now I have a little bit of hope that someone

is

> willing to help me cope with this and make my quality of life with

> this condition as comfortable as possible.

>

> Thanks for all your support and good wishes, they mean an awful lot

> to me and help me through these tense times. Please know that I am

> incredibly grateful to you all and hope that I can show the same

> support back to you too. take care and know I'm thinking of you and

> always here for you.

>

> Love and hugs.....Jo

> xxx