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  1. #16
    rae100's Avatar
    rae100 is offline Verified in Medical Sciences and Facial Shape Analysis
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    Quote Originally Posted by Bsublime View Post
    Actually many people have no idea they have it. I read plenty of stories where people were not diagnosed until the had a sudden heart issue as an adult. I think symptoms can be pretty mild to very severe.

    All that being said, the only use knowing she had would be if it helped trace her back to a family with it.

    Yes - Marfans can be mild to severe. But it almost always presents a major issue by the time the patient is 45. From my own PhD research, I've found that Marfans patients tend to have a much narrower cranium. She does not have the "look" to me of being Marfans (and I've worked with thousands of patients with varying genetic conditions now). Her cranium (and face) aren't narrow enough in my opinion to be Marfan. That being said, she could have an associated condition like Loey-Dietz or Ehlers-Danlos.

    I also think they would have released the Marfan gene info when they released the coronary artery disease gene info. They likely ran whole genome sequencing on her - if she had Marfans or any other sequenced connective tissue condition, the gene hit would have come up.

  2. #17
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    Rae100, as I was reading through this thread, I was thinking of Ehlers-Danlos Syndrome as well. For those who aren't familiar with this condition, EDS is a genetic connective tissue disorder that can present Marfan-like characteristics, along with many other varied signs and symptoms.

    EDS is categorized under 6 different types, some more severe than others. Heart problems are common in some of the types, especially mitral valve prolapse and mitral regurgitation. Any organ can be affected though, considering how much of our bodies are made up of connective tissue and considering that people with EDS have connective tissue that is defective to different degrees.
    Most commonly, a person's joints are affected, with full and partial dislocations of any joint being quite common. For example, I have at least 5 random partial dislocations of various joints daily.

    Many people live their whole lives unaware of the fact that they have EDS. There is a clinical scale, the Beighton Scale, that doctors use to determine if someone likely has EDS, but a true diagnosis can only come from genetic testing, and even then negative results can be unreliable because a few of the EDS types have genetic markers that are yet to be identified by scientists.

    There is no cure, only precautions one can take to prevent joint injuries, such as wearing supportive braces. Regular visits to a cardiologist are important to regulate heart health. Vision should be checked regularly... near-sightedness is common with EDS. Another common sign of EDS is blue sclera, a blue tint to the white part of the eye.

    Very smooth skin is common with EDS. Easy bruising and tearing of the skin happens often, and healing usually takes longer than normal.

    Double-jointedness or positioning of limbs in strange angles without pain can be signs of EDS.
    Most EDS patients have great teeth until about their 30s, then it is common for teeth to crack, break or crumble.

    That's all I can think of at the moment. I've missed a lot, I'm sure, but these are a lot of the obvious EDS signs that may be helpful to determine if FLEK had EDS or not anyway. Perhaps looking at her pictures we might see a blue tint to the whites of her eyes, or maybe she is standing in an awkward looking pose in one if the photos? I have to get ready for an appointment now but I will check back in if I think of anything else!

  3. #18
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    rae100 is offline Verified in Medical Sciences and Facial Shape Analysis
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    Quote Originally Posted by wdmcmahan View Post
    Rae100, as I was reading through this thread, I was thinking of Ehlers-Danlos Syndrome as well. For those who aren't familiar with this condition, EDS is a genetic connective tissue disorder that can present Marfan-like characteristics, along with many other varied signs and symptoms.

    EDS is categorized under 6 different types, some more severe than others. Heart problems are common in some of the types, especially mitral valve prolapse and mitral regurgitation. Any organ can be affected though, considering how much of our bodies are made up of connective tissue and considering that people with EDS have connective tissue that is defective to different degrees.
    Most commonly, a person's joints are affected, with full and partial dislocations of any joint being quite common. For example, I have at least 5 random partial dislocations of various joints daily.

    Many people live their whole lives unaware of the fact that they have EDS. There is a clinical scale, the Beighton Scale, that doctors use to determine if someone likely has EDS, but a true diagnosis can only come from genetic testing, and even then negative results can be unreliable because a few of the EDS types have genetic markers that are yet to be identified by scientists.

    There is no cure, only precautions one can take to prevent joint injuries, such as wearing supportive braces. Regular visits to a cardiologist are important to regulate heart health. Vision should be checked regularly... near-sightedness is common with EDS. Another common sign of EDS is blue sclera, a blue tint to the white part of the eye.

    Very smooth skin is common with EDS. Easy bruising and tearing of the skin happens often, and healing usually takes longer than normal.

    Double-jointedness or positioning of limbs in strange angles without pain can be signs of EDS.
    Most EDS patients have great teeth until about their 30s, then it is common for teeth to crack, break or crumble.

    That's all I can think of at the moment. I've missed a lot, I'm sure, but these are a lot of the obvious EDS signs that may be helpful to determine if FLEK had EDS or not anyway. Perhaps looking at her pictures we might see a blue tint to the whites of her eyes, or maybe she is standing in an awkward looking pose in one if the photos? I have to get ready for an appointment now but I will check back in if I think of anything else!

    I think Ehler-Danlos is much more likely. I instantly thought that she had EDS from the tea party photo. Very awkward/hunched, and her teeth as well. But I'm not sure this will help in the search, because only some types of EDS are autosomal dominant. And even more importantly, it may not have necessarily been inherited EDS, it could have been a novel (sporadic) mutation.

  4. #19
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    Ohhhh - the EDS might explain the deterioration of her teeth over time. Like you said, rae100, her teeth in the tea party photo look very different from the teeth in her drivers license photos. I've wondered if she had some removable veneers.

  5. #20
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    rae100 is offline Verified in Medical Sciences and Facial Shape Analysis
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    Quote Originally Posted by annemc2 View Post
    Ohhhh - the EDS might explain the deterioration of her teeth over time. Like you said, rae100, her teeth in the tea party photo look very different from the teeth in her drivers license photos. I've wondered if she had some removable veneers.
    Most veneers are permanent, I think. I think removable veneers are "flippers" like the kind that kid beauty queens wear.

    I think that her teeth were really bad in the later photos, but maybe not so bad for someone who was actually 55? My Mom is about that age and has bad teeth, too. When she was my age (26) her teeth looked normal like mine. Some people just have poor dentition genetics (myself included).

    I wonder if EDS or any other connective tissue disorder runs in any of the families that have been mentioned in previous threads. I personally don't think she's from the LDS fundamental groups or anything like that, but it could be something interesting to sleuth on for those theories.

  6. #21
    New poster here! Hope I do this properly.

    I have EDS so I learned quite a bit about Marfans while getting diagnosed. FLEK looks much too broad-boned to have Marfans...usually they have a very distinctive gaunt look. EDS is possible, but I'd think we'd have medical history showing frequent dislocations or pain. Also, EDS doesn't explain her height or large hands; unlike Marfans most types of EDS are unconnected to size (the one type of EDS that causes major heart problems is in fact connected to smaller stature).

    I agree she looks unusual though. I did think of acromegaly because of the seemingly thickening bone structure in mid-life, and the increased spacing between the teeth, but we definitely would have learned about that post-mortem.

  7. #22
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    When you hear hoofbeats, don't think zebras. She's tall, with long limbs.

    If it were based on that alone, my entire family would have Marfan's syndrome---but we don't; we're just Dutch.

  8. #23
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    This is an article about a family with Marfans (including pics) http://www.dailymail.co.uk/health/ar...ight-30ft.html

  9. #24
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    I am a 6ft tall woman, and I dont have any genetic diseases- I do, however, have tall parents. My dad is 6'5 and my mother is 5'11. My hands are larger than smaller peoples- but in perfect proportion to my frame.

  10. #25
    Quote Originally Posted by rae100 View Post
    She does not have the "look" to me of being Marfans
    I have no medical training but I've been thinking this exact thought.


  11. #26
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    I live in Longview, so I heard about this case on the news quite a bit when it happened.

    I'm not sure about Marfan's, but it really looks like she might have had vascular Ehlers-Danlos syndrome. The nose, especially. Of course, this is all speculation and I'm not sure it matters much anyway. I have Ehlers-Danlos as well (but a different type) and this was the first thing I thought of when I saw her pictures.

  12. #27
    Vascular EDS is quite rare...and usually presents with short stature: http://www.ednf.org/vascular-type

  13. #28
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    One other syndrome I found while research was Fumarase deficiency. It presents mainly in polygamist sects and has a lot of overlap with her symptoms, though they can get much more severe.


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  14. #29
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    Also, my Mom (a mystery and crime buff like me) was a vascular tech for 20+ years. She encountered a lot of Marfan patients over her time and says that FLEK does not appear to her to have Marfans.


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