Thursday 13 - Dealing with the department of "Genetics".

mmm

Advice:
Grasp a 

1.  I was referred to Genetics because my first daughter died the second day after birth, maybe due to a heart muscle disease. As I have a heartmuscle disease too and research at that time suggested a genetical link my cardiologist thought it wise to look into that.
   When I had my first consultation I had looked up the researchbut the dokter dealing with me denied any connection. So I updated her knowledge.
   
   
2. They found a mutation, but said there was no connection with my disease. I asked: what kind of a mutation. She wouldn't give me my own testresults!!
   Since then more mutations of that gene have been linked to our heartdiseases.
   It's years later and I still have no results.
   
   
3. Son 4 was referred to te same department of genetics.  His posture and autism might be due to a genetic disease. 
   They did their tests, and called him in.
   
   
4. Told him that nothing had been found.
   That is kind of strange because there are always spontaneous mutations and other discrepancies from the normal. They didn't say "nothing special", they said "nothing at all", over and over again.
   
   
5. He didn't get to see anything.
   
   
6. He was told to go to the eyedoc and have his eyes checked for retinitis pigmentosa. That is a serious eye disease,which can lead to blindness. They would get the paperwork in order.
   
   
7. It's not their task to refer to another specialist. They should refer back to the GP with the request for a referral, stating why.
   
   
8. They asked me to come over and they wanted to test me. I told the female doctor that I first wanted the outcome of the VCL gene. She couldn't give it.
   Then I asked why... No answer.
   But please would I do it anyway....
   
   
9. "Only when I get the results".
    "They are too detailed and contain a lot of information you can't deal with. "
   "You don't know my level of knowledge, and of those here at the university who can enlighten me when I have questions anyway."
   "It will be too much"
   "It's still saved somewhere on the computersystem of the hospital, I am working here too and I have entrance to intranet, so that is not a problem.
   Why do you want to test me too? What are you looking for? Or do you create a complete genome with the new machine? That would be very interesting, as I have certain questions about some genetic issues in te family, like uterus cancer in the female line"
   She kept circling... not giving answers in any way.
   "What are you going to do with what you have found?"
   "Just look for a connection with your son."
   "I am sorry, he is my son...I was there when he was born. A connection is between two endpoints. So you have found something in his tests, and as he has given permission to inform me I want to know.
   But I think you want to test me to find out if you can use me in the new research you are doing into a genetic cure for retinitus pigmentosa. Don't tell me how this department works..."
   And then she told me she didn't want to test me after all!!!!!!!
   
   
10. We decided to let it rest for a while.
    Still wondering why they would bother to send him for a check up when they had found nothing.
    I spoke with my eyedoc, he checked me, apart from the cataract radialis my eyes were suprisingly OK.
    
    
11. Almost a year later I asked for an appointment with the head of the department of genetics. "Because I have to discuss something that happened in his department"
    "Does he need to study your files to prepare?"
    "No, absolutely no need. It has nothing to do with my files."
    
    
12. Got an invitation, with a simple connotation: "This doesn't cost you anything."
    Hmm...someone has gone through my files, as I had made very clear when they invited me for further genetic testing last year that I wouldn't pay for it in any way, as they wanted me to be tested for some unknown reason and I couldn't make clear to the insurance why they should pay without any clear evidence and information.
    
    
13. 3 days after I got my appointment son 4 called me.
    He was suddenly contacted by the hospital nearby (another hospital) as he was referred to their eyedoc...
    Well, they must have been in his files too and they must have seen they forgot to take action on the referral.
    
    
    To be continued!!!
    
    Grasp another 
    
    
    
    
    
    
    
    
    
    

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About **Syl

Syl: "Life is a chain of challenges. Sometimes the largest challenges are we ourselves. Facing life, facing others and facing yourself requires either a worryless attitude or plain courage. Most of the time it is dealing with judgement. Maybe life is about getting rid of it."