Community

The 7C thing would change a lot. I have been told I have a de novo mutation; no one else in my family comes close to meeting the criteria. I have 5 other siblings from the same parents; 7C is recessive and not characterized by the severe hypermobility like type 3 is. But one of my other brothers has pretty hypermobile thumbs (no where else; this is the same with my Dad), but that same brother was born with a dislocated hip. I also came back with a lot of homogenous phenotypes for OI; this is alarming as well bc that same brother broke his foot learning to walk and my mom didnt take him to the dr about it for a very long time bc she was sure he was faking it by limping around everywhere. Aside from a different brother who attempted suicide by crashing his car into a brick wall at 60 MPH, dislocated hip brother and I are the only ones out of the 6 who have ever broken bones. (I hope that wasn't too confusing; IDK the protocol about just using their names bc they are not common names). I dont want to be ... More

The 7C thing would change a lot. I have been told I have a de novo mutation; no one else in my family comes close to meeting the criteria. I have 5 other siblings from the same parents; 7C is recessive and not characterized by the severe hypermobility like type 3 is. But one of my other brothers has pretty hypermobile thumbs (no where else; this is the same with my Dad), but that same brother was born with a dislocated hip. I also came back with a lot of homogenous phenotypes for OI; this is alarming as well bc that same brother broke his foot learning to walk and my mom didnt take him to the dr about it for a very long time bc she was sure he was faking it by limping around everywhere. Aside from a different brother who attempted suicide by crashing his car into a brick wall at 60 MPH, dislocated hip brother and I are the only ones out of the 6 who have ever broken bones. (I hope that wasn't too confusing; IDK the protocol about just using their names bc they are not common names). I dont want to be that person who freaks out at the dr after learning her genetic data, but all this could be rly significant and affects more than just me. IDK where I am supposed to go from here. Less

And on that same note of not knowing when homogenous phenotypes are significant, Someone posted in a different forum with this same original post (ppl keep reposting it in different groups - which is great...) the EDS variance resports. I thought I should run my data thru them just in case, wanting more than anything to be able to genetically exclude vascular type once and for all. I ran the variance report on EDS type 7C yesterday and the results were pretty alarming. That report was just as much red and yellow as it was green. I'm trying not to get freaked out about it given how ultra rare is it claimed to be, but then again those of us with type 3 never run any of our genetic data thru...anyone for our diagnosis. So I have a hard time believing the scarce numbers quoted are anywhere close to accurate. Do you know of the genetic criteria for the other types? To be honest, since we had already been pretty sure of type 3, IDK anything about getting a diagnosis for the other types, except for that I am always being told there is a DNA test to know ... More

And on that same note of not knowing when homogenous phenotypes are significant, Someone posted in a different forum with this same original post (ppl keep reposting it in different groups - which is great...) the EDS variance resports. I thought I should run my data thru them just in case, wanting more than anything to be able to genetically exclude vascular type once and for all. I ran the variance report on EDS type 7C yesterday and the results were pretty alarming. That report was just as much red and yellow as it was green. I'm trying not to get freaked out about it given how ultra rare is it claimed to be, but then again those of us with type 3 never run any of our genetic data thru...anyone for our diagnosis. So I have a hard time believing the scarce numbers quoted are anywhere close to accurate. Do you know of the genetic criteria for the other types? To be honest, since we had already been pretty sure of type 3, IDK anything about getting a diagnosis for the other types, except for that I am always being told there is a DNA test to know for certain for all except the hypermobility type. Well, I have that data and want to know for certain! lol Less

TY, Diana. I am familiar with most of those resources, but, as I'm sure you can imagine, it is very frustrating that no dr I see would be interested in reading up on any of this, even if I just made an appointment and sat there while he/she read it. My options for specialists is limited in the Texas college town where I reside, especially given that my insurance is Medicare/Medicaid. I have been told blatantly false information already; I wouldn't describe any of them as *curious*. lol.

Now to give my pain management guy a little credit, I have only been seeing him since about Thanksgiving; I dont think he has yet realized that is usual bag of tricks are royally worthless on me. I have read several articles on Naltrexene; it is something I would definitely be interested in trying, but I do not feel comfortable enough with him yet to ask for anything by name bc of the fear of being labeled a drug-seeker. After how long it took to find someone, I really cant risk that. Also, I had it confused with Neurontin (which does not work) for quite some time. It ... More

TY, Diana. I am familiar with most of those resources, but, as I'm sure you can imagine, it is very frustrating that no dr I see would be interested in reading up on any of this, even if I just made an appointment and sat there while he/she read it. My options for specialists is limited in the Texas college town where I reside, especially given that my insurance is Medicare/Medicaid. I have been told blatantly false information already; I wouldn't describe any of them as *curious*. lol.

Now to give my pain management guy a little credit, I have only been seeing him since about Thanksgiving; I dont think he has yet realized that is usual bag of tricks are royally worthless on me. I have read several articles on Naltrexene; it is something I would definitely be interested in trying, but I do not feel comfortable enough with him yet to ask for anything by name bc of the fear of being labeled a drug-seeker. After how long it took to find someone, I really cant risk that. Also, I had it confused with Neurontin (which does not work) for quite some time. It is also discouraging to me that in some patients, when it does work, it can take up to a year to feel the effect; correct me if I have misunderstood, but I also understand that by its very nature, opiates will not work when taking this drug if I need something for my pain in the meantime. As you may have guessed, no dr has ever suggested it, and I have serious doubts if my current pain guy has ever even Rxed it. I have too many questions about the way it supposedly works to just take it without them being answered; normally, if I were to ask for a specific drug, I would already be confident enough in my knowledge of it that if my doc was oblivious to what he was doing, I am informed enough to make up for that.

As far as the last link is concerned, I have a few heterozygous COMT results from the methylation variance report, but VKORC1 was not analyzed on any of my reports, but according to 23andme, I do have that raw data - I just dont know if it is significant or not. Again, a service like that link is offering is not paid for by my insurance, which is why I have been doing this one-man show over here. But there seems to be a huge void of online information about exactly what services like that use as the genetic criteria for labeling a patient as having gene-related abnormal function. I know that info exists if ppl are paying thousands for that kind of analysis! But IDK if that medical standard is set by the medical community, or if those companies made up their own standard. I understand the concept of basing this information off of patients with known abnormalities, but nowhere can I find an objective source of this information or when someone has crossed the threshold into being considered as having a mutation that causes XYZ condition. I did not realize how much work I was going to have to put in to analyzing this myself; I had always thought of the burden as being the cost of the 23andme raw data.

For what it is worth, these are the ppl that are doing a study with my pain guy that I am trying to get into; bc it is research-based, their services would be free to me. http://assurexhealth.com/about/ Less

http://www.iversongenetics.com/dme-genotype.html Interesting link, with several genes tested, not only CYP450.

Oh, I forgot to ask: Some have had great luck with Low Dose Naltrexone- have you tried this yet? I haven't, but some have said it is miraculous!

Hello,

I, too, have EDS, and have lost a lot of muscle mass, weight (gastroparesis) and have a lot of ligamentous laxity that leads to instability all over the spine. One can also have nerve root spinal diverticulae, and these are outpouchings of the dura that fill with fluid, and cause a lot of pain.
After living with this for years, I believe it is a combination of the laxity in the ligaments (which support, for example, the neck/spine), and the muscles, which tighten and pull like crazy to try to keep the joints "in," but instead, pull things apart!

I have a link to TCAPP (The Coalition Against Pediatric Pain), EDNF Vimeos, and edsawareness.com, which is comprised of several presentations by EDS physicians. I've handed this to doctors, and some of them actually watch the videos (the focus is not just on pediatrics, but also on Pain and all kinds of problems with EDS).

Here is the link to the letter I wrote, with the link inside, so that the decent doctors can begin to understand the full range of EDS manifestations feel free to share with any and all physicians that are curious about EDS ... More

Hello,

I, too, have EDS, and have lost a lot of muscle mass, weight (gastroparesis) and have a lot of ligamentous laxity that leads to instability all over the spine. One can also have nerve root spinal diverticulae, and these are outpouchings of the dura that fill with fluid, and cause a lot of pain.
After living with this for years, I believe it is a combination of the laxity in the ligaments (which support, for example, the neck/spine), and the muscles, which tighten and pull like crazy to try to keep the joints "in," but instead, pull things apart!

I have a link to TCAPP (The Coalition Against Pediatric Pain), EDNF Vimeos, and edsawareness.com, which is comprised of several presentations by EDS physicians. I've handed this to doctors, and some of them actually watch the videos (the focus is not just on pediatrics, but also on Pain and all kinds of problems with EDS).

Here is the link to the letter I wrote, with the link inside, so that the decent doctors can begin to understand the full range of EDS manifestations feel free to share with any and all physicians that are curious about EDS:

https://docs.google.com/document/d/14r72xLAzH5H3uqAcJ-OFQjINs5hd2pZ6CY-aAw4UoeY/edit

If you want to join a great database, in which presentations via edsawareness.com are given by top doctors on all kinds of topics EDS (the past videos are all available for viewing, feel free to join so that you can be apprised of upcoming events: Send an email to Jon Rodis (Head of the Marfan Foundation New England - also helps EDS and related disorders) at WSALMGCDJM@aol.com, and you can receive updates on all kinds of upcoming Webinars etc., Conference Calls, and much more.

Wishing you luck; the pain is so debilitating, and doctors should be apprised of the most up-to-date info. about all our issues.

Big hugs!

Sincerely,

Diana C. Less

Hmm...I dont believe I have ever ended up with any of the sensitivities you are describing. My fear is that I will exhaust every medication in existence with the one pain-free day it gives me and I wont have anything when I am older and presumably worse off. My pain management dr wants me to be in a study where I think that is what they are doing; I'm bribing the nurses to keep bringing up my name. lol. My insurance wouldn't even pay for the cheap one. I did see some methylation issues, but the description is too technical for me to understand. The MTHRF ones doesnt seem like anyone knows what exactly they mean. I have a pretty good grasp on CYP450, but the details are too lacking to have found anything significant in me. IDK how to compare on this site; it was my New Years resolution to try and figure some of this DNA stuff out bc I got too frustrated after finding no applicable CYP450 abnormalities. Lord knows no dr will help me with it. :/

I too have EDS and very similar Troubles with Pain medications. For me, not only does most opiates become ineffective after a few uses, I have often developed allergies or sensitivities to them as well. For this I have been accused as drug seeker, though I spend my days drug free due to fear of allergies and a lack of results to them , and in chronic pain and fatigue. I too have thrown out many pain killers and even had a nurse complain that I wasted 1/2 a bag of morphine I refused to use 2 days after a surgery and it did nothing for me. I also have SNP's relating to drug metabolizing as well as MTHRF. COMT, CBS SNPs that causes methylation issues within the liver that causes Drugs and Toxin problems as well as methyl donor conversion problems. I believe these all interact to cause the Drug Metabolizing issues as well as numerous other drug sensitivities I have. There is a newer but very expensive drug DNA panel that tests deeper and further snps related to CYP450 that so far is not generally tested with other DNA drug testing panels. So there are missing links ... More

I too have EDS and very similar Troubles with Pain medications. For me, not only does most opiates become ineffective after a few uses, I have often developed allergies or sensitivities to them as well. For this I have been accused as drug seeker, though I spend my days drug free due to fear of allergies and a lack of results to them , and in chronic pain and fatigue. I too have thrown out many pain killers and even had a nurse complain that I wasted 1/2 a bag of morphine I refused to use 2 days after a surgery and it did nothing for me. I also have SNP's relating to drug metabolizing as well as MTHRF. COMT, CBS SNPs that causes methylation issues within the liver that causes Drugs and Toxin problems as well as methyl donor conversion problems. I believe these all interact to cause the Drug Metabolizing issues as well as numerous other drug sensitivities I have. There is a newer but very expensive drug DNA panel that tests deeper and further snps related to CYP450 that so far is not generally tested with other DNA drug testing panels. So there are missing links and many theories. I wish I could give you and real straight answer but I have yet to find one myself. Do you have other SNPS relating to Drug Interactions or Methylation issues? I have included my genetic variance results for you to compare if you wish. If it is any help, Here is a good article that explain in depth on CYP450. http://www.aafp.org/afp/2007/0801/p391.html Less