Invest in ME Conference 12: First Class in Every Way
OverTheHills wraps up our series of articles on this year's 12th Invest in ME International Conference (IIMEC12) in London with some reflections on her experience as a patient attending the conference for the first time.
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Tetralogy of Fallot

Discussion in 'General ME/CFS Discussion' started by nanonug, Mar 2, 2018.

  1. nanonug

    nanonug Senior Member

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    There is this thing called Tetralogy of Fallot that has been mentioned a couple of times here on PR. Now, to my knowledge (but I'll check with mom!), I've never exhibited the typical after-birth signs normally associated with the condition. However, since forever, I've had a terrible time with physical activity resulting in tachycardia, shortness of breath and terrible cognitive decline, not to mention syncope or near syncope occasionally. How did I end up looking at this condition? Well, while browsing my genome on ENLIS for genetic variations and finding out I am heterozygous for a rare (0.01%) and pathogenic autosomal dominant mutation on the GDF1 gene (rs121434424) leading to loss/impairment of function. This mutation is associated with, you guessed it, Tetralogy of Fallot!

    A few years back I did an echocardiogram, not with a cardiologist, but with my family doctor, and the result was interpreted somewhere else. A few days later, I was told by my family doctor that "everything" is fine. But now I need to actually get a copy of the echocardiogram to see if there was anything funky going on. And then possibly schedule an appointment with a cardiologist.
     
    lafarfelue, ukxmrv and pattismith like this.
  2. nanonug

    nanonug Senior Member

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