Overstressed
Senior Member
- Messages
- 406
- Location
- Belgium
Hi All,
last december I had genetic testing done because of my thoracic aorta aneurysm. We have no family history of such a disorder.
Last week, the doctor in Genetics called me to say they've found a mutation in the FBN1-gene, which is not described in the literature until now. Since it is not described before, they don't know whether this is at the root of the TAA. To narrow the relevance of this mutation, they want to perform some additional tests on me, i.e. a skin biopsy, draw some more blood, blood from my mother and family members from my father's side.
I have been Googling to find out more about this gene, and the results are pretty shocking. It looks like Marfan's syndrome is inevitably related to that gene.
This horrifying news not only affects me, but seriously affects our child-wish.
I don't understand, I got infected by one encounter with a promiscuous woman. And ever since then, it looks like I ended up in a nightmare. I've been a pretty solid and strong individual...until now. My life really has no meaning to me, anymore. Since my infection, I have been dealing (like all people here) with doctors/specialists telling me there's nothing, it's all in my head. Ever since that encounter, you receive one punch after the other uppercut. It didn't knock me down, until now.
I have hit the ground now, no energy left to stand back up.
I'm sorry for the emotional wrinting, but are there other people with diagnosed mutation of the FBN1-gene ?
Thanks,
OS.
last december I had genetic testing done because of my thoracic aorta aneurysm. We have no family history of such a disorder.
Last week, the doctor in Genetics called me to say they've found a mutation in the FBN1-gene, which is not described in the literature until now. Since it is not described before, they don't know whether this is at the root of the TAA. To narrow the relevance of this mutation, they want to perform some additional tests on me, i.e. a skin biopsy, draw some more blood, blood from my mother and family members from my father's side.
I have been Googling to find out more about this gene, and the results are pretty shocking. It looks like Marfan's syndrome is inevitably related to that gene.
This horrifying news not only affects me, but seriously affects our child-wish.
I don't understand, I got infected by one encounter with a promiscuous woman. And ever since then, it looks like I ended up in a nightmare. I've been a pretty solid and strong individual...until now. My life really has no meaning to me, anymore. Since my infection, I have been dealing (like all people here) with doctors/specialists telling me there's nothing, it's all in my head. Ever since that encounter, you receive one punch after the other uppercut. It didn't knock me down, until now.
I have hit the ground now, no energy left to stand back up.
I'm sorry for the emotional wrinting, but are there other people with diagnosed mutation of the FBN1-gene ?
Thanks,
OS.