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Genetic Testing because of thoracic aorta aneurysm

Discussion in 'Genetic Testing and SNPs' started by Overstressed, Jun 27, 2013.

  1. Overstressed

    Overstressed Senior Member

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    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.
  2. brenda

    brenda Senior Member

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    Hi OS

    Sorry you are having a tough time. I have a lot of AA's on the FBN1 gene and close relatives who died with aneurisms so l am keen to know more.
  3. Overstressed

    Overstressed Senior Member

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    Hi Brenda,
    If I have more information, I'll let you know.

    Best wishes,
    OS.
    brenda likes this.
  4. Sushi

    Sushi Moderator and Senior Member Albuquerque

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    Hi OS,

    Yes Marfan's is a difficult diagnosis. Have you found this site: http://www.marfan.org/marfan/2280/About-Marfan-Syndrome You probably have. They talk about planned surgery to repair the aorta and various medications.

    I hope you can find a specialist who can help guide you through this.

    Sending you best thoughts and wishes,
    Sushi
  5. Overstressed

    Overstressed Senior Member

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    Hi Sushi,

    do you know whether this FBN1-gene mutation is common within this patient population? My Genetics doctor doesn't think I have Marfan's. Most people with Marfan's tend to be slim and tall, and I'm not tall.

    brenda: do you or your family have/has Marfan's?

    Best wishes,
    OS.
  6. brenda

    brenda Senior Member

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    Hi OS

    Not that I know as I am not tall and slim (I am the opposite) and no family member is but I am looking into copper imbalance which is implicated in aneurysm and also gout which a family member has.
    Overstressed likes this.
  7. Overstressed

    Overstressed Senior Member

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    My next tests are planned for October 30, 2013. Since the University clinic is far from my home, they planned everything to happen on one day, but I'm a bit frustrated it is planned so late. This past gene-test took already 6 months...

    Best wishes,
    OS.
    brenda likes this.
  8. Overstressed

    Overstressed Senior Member

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    Hi Brenda,

    do you have children? If yes, are they born with a mutation on FBN1-gene too? What are they suffering from?

    Best wishes,
    OS.
  9. brenda

    brenda Senior Member

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    Hi OS

    They (4) have not had the 23andme test done so far. They suffer depression and addictions, one schizophrenia, (suicided) one mood disorder, all are sick with cfs.
  10. Overstressed

    Overstressed Senior Member

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    Hi Brenda,

    you discovered your FBN1 mutation through 23andme? That's a heavy load you have to carry, all your children being ill, not to forget yourself. How is your husband doing? Does he have cfs too? I don't understand research really. As a researcher, I would be fascinated by such a case. Did your parents suffer cfs or similar illnesses? Sorry for asking these questions, but, as you know, my wife and I have a child wish too...

    Best wishes,
    OS.
  11. brenda

    brenda Senior Member

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    Hi OS

    Yes, I just got my 23andme results a few months ago so still trying to make sense of them. My ex is an alcoholic and our two sons live with him by their choice. He does not have cfs but many health issues before the drinking. We all had a severe pesticide exposure which made us sick but I was sick from mercury poisoning in childhood. Parents on both sides had no cfs but various health problems ie cardiovascular and all had depression to some degree.
  12. Overstressed

    Overstressed Senior Member

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    Hi Brenda,

    thanks for sharing this info, do not feel obliged to answer my questions if they tear some wounds open. I completely understand. Genes seem to mutate all the time, and the causes can be all different, it seems. With me it is caused by infection where maybe more than one pathogen is involved, with you it seems the exposure to toxins. Or perhaps you had an underlying infection that got activated through this exposure. There's so much research needed to address all these questions.

    It would be interesting to find out about your sons, because if I remember correctlty, I had read on 23andme that an addiction gene is known. People with that gene are more prone to addictions.

    Best wishes,
    OS.
  13. brenda

    brenda Senior Member

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    Hi OS

    It was toxins for me for sure as the mercury poisoning well the first lot, was at 6months old. Undermethylation symptoms from then on as l had severe problems with whooping cough a few months later. I do have the addiction gene so l guess my sons may have a double whammy.

    I have never had alcohol or drug problems though despite a great deal of environmental assaults so nothing is definite.

    Kind regards
    Brenda
  14. Sushi

    Sushi Moderator and Senior Member Albuquerque

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    Hi OS

    I don't have any statistics for ME patients and FBN1 mutations. I don't think there would be too many here with Marfan's but many with EDS--and that mutations doesn't seem to be found in EDS except for the vascular type--from very quick reading on the net.

    I hope you can get an earlier appointment. That is a long time to wait with a difficult diagnosis hanging over you. Keep us posted.

    Thinking of you.
    Sushi

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