Marfan's and other syndromes

[ClaireNC]

It has been widely speculated in the WS community that she might have had Marfan's syndrome. Correlates with genetic marker for heart disease, height, large hand size and mental health issues.

 

[chris24]

They did genetic testing to my knowledge as they found a gene that showed a genetic heart defect. You think they would've realized at the time that she had the Marfan's gene.

 

[deca]

Just because she has a heart defect doesn't mean much. According to my heart doctor, they believe up to 1/3 of the population has a heart defect of some kind and most of those go unnoticed. JMO
So can someone list WHY they thought she had Marfans? Because I think the coroner would have mentioned that, right?

 

[AngelaE8654]

Just because she has a heart defect doesn't mean much. According to my heart doctor, they believe up to 1/3 of the population has a heart defect of some kind and most of those go unnoticed. JMO
So can someone list WHY they thought she had Marfans? Because I think the coroner would have mentioned that, right?

People think she may have had Marfans because she was tall and hand long limbs.

 

[buffetoflies]

They did genetic testing to my knowledge as they found a gene that showed a genetic heart defect.

I don't think this is right. I think they found she had the gene that predisposes her to coronary artery disease, not a genetic defect.

Hair pulled from the woman's head had skin on it that helped forensic investigators learn she had one of the genes associated with coronary artery disease.

From: http://www.foxnews.com/us/2013/06/2...tery-three-years-after-suicide/#ixzz2XMAyjIr6

 

[killarney rose]

Isnt the heart defect concerning marfans an aortic aneurism?

 

[ClaireNC]

I just posted the statement: "It has been widely speculated in the WS community that she might have had Marfan's syndrome. Correlates with genetic marker for heart disease, height, large hand size and mental health issues." as a line to open the thread. I know nothing about Marfan's. There was some great discussion on this topic in the old general threads, we are waiting to get them moved here.

 

[Bsublime]

I copied this over from the old thread where I submitted it before. I tried to summarize everything I could think of that linked FLEK to having MArfan's and what that would tell us.

It has long been speculated on this thread that FLEK suffered from Marfan Syndrome. It seems unlikely to me that he really did have the disease because it seems like this is something people would talk about and because it is an autosomal dominant disease, it would be such a strong lead in discovering her family (many family members would also have it). It is a rare disease affecting about 1 in 10,000 people so about 200,000 people in the U.S. have it. So that would really narrow down the search for her family. From my research, it sounds like many people have no idea they have it and there have been several cases of high profile athletes who had no idea until they had a sudden heart attack. So FLEK and he family may not have even known.

However, I thought I would summarize some of the research I did on Marfan’s and FLEK
1) FLEK had unusually long fingers or “Arachnodactyly” (see photos of FLEK holding the dreamcatcher in the Texas Business Woman’s meeting). This is one of the key features of Marfan’s.
2) She’s was tall. Her Idaho ID card says she is 5’6” which isn’t all that tall, her Texas license says she is 5’10” and her passport application says she is 5’11”. In the livechat interview they say that her medical records say she is 5’8”. She does look tall in her photos, definitely more than 5’6. I did find one medical diagnostic that recommended that all women over 5’10” be screened for Marfan (but it also recommended that for all men over 6’0” be screened and that does not seem all that tall for a man to me).
3) FLEK had breast implants (ST article). Because she was linked to being a stripper it is assumed she did this to increase her tips. However, one of the symptoms of Marfan’s that may be present is either an indented or protruding breast bone. It is common for sufferers to have corrective surgery for health and/or purely cosmetic reasons.
4) Heart problems. This one confuses me. If you look at the time line/facts that has been put on here you see the line “Widely speculated in the WS community that she might have Marfan syndrome. Correlates with genetic marker for heart disease, height, large hand size and mental health issues.” I think the second sentence is saying that Marfan’s correlates with a genetic marker for heart disease. I don’t think there is any evidence that FLEK was tested for or was ever reported to have heart disease. Someone please correct me if I am wrong but after this excellent timeline was put together, I started seeing people talk about how FLEK had a genetic heart disease marker and I don’t think there is any evidence for that.
5) It has been stated that FLEK had a dental plate (post #1692 but no reference to where they heard it. I searched but couldn’t find it anywhere but I might have missed it) and in the photo with her in the hat holding the baby her teeth look gaped and it has been speculated that she had her teeth capped or wore veneers (post #886 and #887 and more recently). Many people with Marfan syndrome have narrow jaws and high, arched palates, which can create dental and orthodontic problems.
6) Most people with Marfan’s suffer from some ocular problems. Do we know if she wore glasses or contact lenses? I have never heard this mentioned or seen a photo of her wearing glasses. Someone brought up that her Texas driver’s license had a restriction on it which may mean she did have vision problems
7) Fertility problems (ST article). FLEK had at least one miscarriage and was only able to conceive her child via IVF. There is no link between Marfan’s and infertility. However, a woman with Marfan’s would be at high risk for having a heart attack during delivery and the entire pregnancy would be treated as high risk. But there is nothing medically to link her miscarriages to possibly having Marfan’s.
8) FLEK used IVF to have her child. If conceived naturally, there would be a 50% chance of that child also having Marfan’s. It is now possible to use IVF to select embryo’s that do not have the gene for Marfan’s and selectively implant those embryo’s. In Texas, and in with a reportedly very Christian family, this practice probably would have been very frowned upon. It seems unlikely that they would have opted for this, but could explain why no one is saying that she has the disease.
9) If she had the disease, there is a 50% chance that her daughter also had the disease. This could be the only reason for keeping quiet about her having this disease that I can think of. The R family wants to protect the privacy of the child.
10) Marfan’s would be a strong link to her family and I would think because this is a missing person’s case and there is no real crime involved other than using a fake SSN there is no reason for them to withhold information that would be such an identifier.
11) There is a National Marfan Syndrome Clinical Database. This would contain protected patient information and would not be accessible. However, posting on the National Marfan Foundation might be a good way to see if anyone has a missing family member that could be FLEK.

Sorry for the length, but a lot of connected thoughts

Also I did go back and find where the heart disease link came from. It was in the Fox News Article. Not sure when the test was done or what the gene was. It just say she had a gene linked to coronary artery disease.

 

[chris24]

Thank you Bsublime! Didn't mean to misquote with "genetic defect" my apologies!

Looking at Wikipedia, if someone has Marfan's they need regular checkups by a cardiologist...many people who have Marfan's take some kind of medication for their heart. Also says that many people suffer from pain due to the way their muscles are affected, and many take pain medication regularly.

 

[mfgufi]

A few thoughts on Jane Doe's mental health and any related disorders. There is no evidence of unstable behavior on her part prior to the birth of her child, and scant evidence for it prior to the Ruff's separation. Hearsay and rumors can paint a very distorted picture of a person.

There have been suggestions that she may have been on medication, however "could", "may" and "might" are not evidence unless JV elaborates on the matter and names a verifiable source for this information. Furthermore, the statement by her former boyfriend that she had "more problems than he could handle" could mean any number of things (financial issues? jealousy? job or college related stress? enemies she had made? mental health issues? something else?). Again, this information is useless unless JV or this supposed boyfriend clarify.

Her unusually private behavior is also insufficient evidence for any deeper issues. This may simply mean that she found it difficult to adjust to the Longview community, including her in-laws. Given that she had lived in or near a major city for at least a decade (when exactly did she move to Longview? before or after becoming acquainted with her future husband?), integrating into a somewhat provincial community with dynastic family lines would have been non-trivial for her. It's easy to be "the outsider" in such an environment. Her documented presence at business meetings does not support the idea that she was asocial in general.

Whether her increasingly suspicious attitude toward, and jealousy of, her in-laws were signs of a beginning psychosis, is difficult to determine. This may have been a case of simple personal animosity, or it may have been a symptom of something more than that. The only thing we do know for certain, is that her mental condition began to deteriorate after BR separated from her.

 

[Occam's Razor]

This is why I'm so skeptical about Marfan's. If she had Marfan's, she would have had far greater health problems than funny looking hands. Marfan's is a very serious degenerative condition, and even if her case was relatively mild, it would get worse as she got older and it's hard for me to believe that the Ruffs wouldn't know about it.

 

[chris24]

A few thoughts on Jane Doe's mental health and any related disorders. There is no evidence of unstable behavior on her part prior to the birth of her child, and scant evidence for it prior to the Ruff's separation. Hearsay and rumors can paint a very distorted picture of a person.

There have been suggestions that she may have been on medication, however "could", "may" and "might" are not evidence unless JV elaborates on the matter and names a verifiable source for this information. Furthermore, the statement by her former boyfriend that she had "more problems than he could handle" could mean any number of things (financial issues? jealousy? job or college related stress? enemies she had made? mental health issues? something else?). Again, this information is useless unless JV or this supposed boyfriend clarify.

Her unusually private behavior is also insufficient evidence for any deeper issues. This may simply mean that she found it difficult to adjust to the Longview community, including her in-laws. Given that she had lived in or near a major city for at least a decade (when exactly did she move to Longview? before or after becoming acquainted with her future husband?), integrating into a somewhat provincial community with dynastic family lines would have been non-trivial for her. It's easy to be "the outsider" in such an environment. Her documented presence at business meetings does not support the idea that she was asocial in general.

Whether her increasingly suspicious attitude toward, and jealousy of, her in-laws were signs of a beginning psychosis, is difficult to determine. This may have been a case of simple personal animosity, or it may have been a symptom of something more than that. The only thing we do know for certain, is that her mental condition began to deteriorate after BR separated from her.

Agree.

Many times in retrospect you see things differently.
Now that the family knows something was up with her they could be seeing all these things that weren't really true...or embellishing them.

 

[Occam's Razor]

Agree.

Many times in retrospect you see things differently.
Now that the family knows something was up with her they could be seeing all these things that weren't really true...or embellishing them.

I agree. Most of the characterizations of FLEK having mental problems came from a local churcg (the Ruff's church) "counselor" whose qualifications and impartiality are both up for debate. Remember, the Ruffs were "big frogs in a small pond", there in Longview. Also remember that the Ruffs had just begun a divorce action that apparently included a demand for custody. I say the Ruff's instead of Blake, because it doesn't sound to me like he was running his own life. Anyway, the counselor would have been a witness for the Ruffs as to Lori's lack of fitness to have custody. It would have been dirty, especially since it sounds like Blake might have had demonstrable mental problems himself.

The Ruffs said they received a threatening email from Lori, and that she became "disruptive" during a custody "discussion". No info as to what was "threatened" or what they meant by "disruptive", but I don't think that necessarily indicates mental instability. People get worked up during divorces, especially with contested child custody.

On the other hand, she may have been mad as a hatter. But I don't think that the evidence for that is exactly compelling.

 

[Bsublime]

This is why I'm so skeptical about Marfan's. If she had Marfan's, she would have had far greater health problems than funny looking hands. Marfan's is a very serious degenerative condition, and even if her case was relatively mild, it would get worse as she got older and it's hard for me to believe that the Ruffs wouldn't know about it.

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.

 

[rae100]

I am currently a PhD candidate in medical genetics and facial shape analysis. I work with marfan patients at least once a month, and I'm of the opinion that FLEK did not have marfans. Patients with marfans commonly experience major eye problems, up to things as serious as retinal detachment. They also often experience major heart issues - cardiac dissection is quite common. Marfan patients have to be constantly monitored. I think the chances of FLEK having the condition is less than 5%. That being said, her medical records have not been released, nor has the Ruff family spoke on this. So… maybe.

 

[rae100]

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.

 

[wdmcmahan]

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!

 

[rae100]

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.

 

[annemc2]

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.

 

[rae100]

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.