Monday, 16 November 2009

Putting On The Pressure

Got an email back from www.humane-genetik.de today telling me the following:

"Your message = Would it be possible to have a mosaic test performed at your clinic? It involves the suspicion of XX/XY mosaicism or similar.

Dear Mrs. Posch,

Yes, it is possible to perform mosaic testing at our laboratory.

Dependent on the patients phenotype and clinical findings we can offer different techniques to check mosaicism (e.g. molecular genetic (PCR), molecularcytogenetic (FISH), cytogenetic).

Please send fresh EDTA- and Heparinblood samples. Give relevant reports and accurate description of the clinical findings.

Costs: e.g. XX/XY mosaicism (PCR) 130EUR

With best regards

Birgit Becker"

Thanks to Jan for providing me with the initial links which put me on the trail of this laboratory. I'll discuss matters with my GP on Monday, by which time the issue with the UMCG may have progress or derailed some more as well.

Today my therapist Engel Vrouwe agreed to calling the UMCG first, but also told me that he would like see my visit the UMCG once more, during with appointment he would like to be present as well. I sent an email to the UMCG and will hear back from them when they have a date for an appointment. This appointment will be with professor Weijmar Schultz, the radiologist and geneticist. I do not expect anything from it, but at the very least it should clear matters for a legal approach.

In other news, things are most definitely so-so for me. The current events are very tough on my both mentally as well as physically. The past few days my body temperature has hovered between 37.6C (mild fever) to 36.1C (normal is .5). I felt absolutely horrible either time. Today the problem was more emotional, though. Mentally I feel absolutely drained, finding it hard to see anything as worth living for, especially with the huge amount of medical and legal junk I'll have to work my way through the coming months if not years. Makes the easy way out look very attractive at times.


Maya

9 comments:

Swift said...

I miss you.
Stay strong.

Ing. Frank de Bruin said...

Goedenmorgen Maya,
Succes met alles.
Hopelijk komt er snel duidelijkheid in jouw situatie.

Groetjes,
Frank de Bruin

Maya Posch said...

*hugs Swift*

Don't worry, I'll be back :)


Thank you for your kind words, Frank de Bruin :)

Ing. Frank de Bruin said...

You´re welcome Maya.
How are you doing today?
I´m baking pancakes at the moment, so I´m doing great.

Greetings,
Frankie

Maya Posch said...

Just finished a project, so I'm doing fine :) Can't wait to start on this new project, using a real programming language instead of some cowardly scripting language :P

Pancakes sound great, almost makes me wish I had some today instead of the lasagna we're having ;)

Ing. Frank de Bruin said...

Hello Maya,
It´s good to hear from you again.
The project sounds good to me, I want to hear more about it.

I´m having moussaka today, do you know what that is? It´s a familiar Greek meal. Normally they use lamb but I don´t eat meat so I´m making it with tofu or fish. I´m what they call a pescotarian. Feel welcome to join me someday, haha.

Well enjoy your lasagna.

Greet,
Frankie

Maya Posch said...

Yeah, we eat that dish here at times as well. It's nice :)

Thanks!

Ing. Frank de Bruin said...

Hi Maya,

I'm watching expeditie robinson right now, it's very exciting, do you know that tv-program?

Tomorrow I'm gonna play waterpolo again ;-) I love it. It's a nice sport.

See you later.

Well, sweet dreams for now.

Groetjes,
Frank

Ing. Frank de Bruin said...

Hai Maya,
How are you doing?
It's been a few days. Do you have msn-messenger too?

Greets,
Frankie