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The Plot Thickens...please Help


photchkiss
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Hello everyone:

I joined DINET less than 2 weeks ago. Your support and feedback have been greatly appreciated.

Looking at your signatures on posts, and seeing the clustering of commonly shared disorders may have gotten me closer to a diagnosis.

Before DINET, I hadn't heard of EDS. Despite the fact that joint hypermobility, instability etc. have been plaguing me for years, I didn't know the cause.

Like many of you, I've been on a multi-year journey from one doctor to the next. I've been tested for ALS, MS, YOPD, Wilson's Disease, etc. etc.

Once I realized that I had POTS, it lead me to all of you. And once I began to listen to your stories, and read your signatures, it lead me to EDS.

I'm a 37 year old guy. I'm an accomplished professional. But for the past several years, I've felt as though I was swimming up stream. And in the past year, my health began to rapidly deteriorate.

Once I learned I had POTS--I went into life changing action mode. Treating the OI, has allowed me to go from functionality of a 3 on a scale of 1-10 to functionality of a 6 or 7.

I have an appointment scheduled with a rheumatologist in 2 weeks to check me for EDS. In the past, I had many symptoms of Wilson's Disease, a very rare, genetic copper storage disease. I requested that my neurologist check for this, and when the lab tests came back for a protein called ceruloplasmin (Cp) and for copper serum levels both were low. My Cp level was 16 mg/dl--the normal range is 20-45 or so, with most people having Cp in the mid-thirities. My serum copper levels were also low. Through subsequent testing, Wilson's was ruled out--definitively. But now, ceruloplasmin and copper have come back on the radar in the world of EDS.

As I dug into the various types of EDS, I noticed that some sites suggest that running Cp and copper serum tests are common in the test battery. Apparently type IX, otherwise known as Occiptal-Horn Syndrome, a milder variant of the child killing Menke's disease, is a type of EDS marked by low Cp and low serum copper levels. I checked my lab values (tested on 3 different occassions), and they are exactly within the range associated with EDS type IX, or OHS.

My sense is I don't have this, since it is sometimes associated with mild cognitive deficits and even mild mental retardation, but the literature does say that intelligence can be normal. What scared me yesterday was a theme that emerged, that people with Occipital-Horn Syndrome usually live to mid-life.

Do any of you have experience with EDS type IX or know of someone who learned that they had this at a similar stage in life to myself? --is it possible for a person with my background, at my age, to have something like this? And do you think that I'm doing the right thing going to a rhematologist (formerly she was with Mayo and now in private practice) as a next step?

As I learn about EDS, I'm connecting the dots back to my childhood. I'm quite certain I have some type of EDS, but my intuition also tells me that something more is going on that has autonomic and neurologic dimensions. Your persepecitves, suggested links, or any other insights you can share are most appreciated.

Thanks,

Joe

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Guest sonotech

Seeing the Rheumatologist IS a good idea because they are usually the docs that treat EDS so surely they will be able to diagnose it for you.

From what I understand about EDS, many people dont fall into ONE EXACT catagory of EDS. Meaning each person can have different symptoms yet still have the SAME catagory of EDS. Lots of patients have symptoms that can be from several DIFFERENT catagories of EDS . So, some patients are diagnosed with "EDS unknown" and are not actually given a classification (like I,II,orIII).

It seems that an extensive family history may be in order, maybe meet with a genetic counselor who can help you. It seems that doctors arent as concerned about the actual TYPE of EDS, they just consider a patient Vascular EDS or NON-Vascular EDS.

I know you are probably very worried given your age and what you have read so I hope you get some answers soon.

Laura

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The hypermobile version of EDS is believed to be autsomal dominant--so, if you have it, then one of your parents also has to have it, and your siblings are likely to have some version too.

My mom has classical EDS, my sisters have mild variants of classical, and I have HEDS.

Nina

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Nina, I always thought what you'd just said was true and a geneticist told me it was as well, but I just went to an EDS lecture given by a geneticist who has a special interest in EDS and she told me that families can have multiple children with EDS without either parent showing signs. I was really surprised, as I'd always been told the opposite, but this woman really seemed to know what she was talking about.

Michelle

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Wow Michelle, that's really interesting--and would seem to counter the info on the EDNF website?

My mom definitely has classical type, and my sisters both have skin issues (keloids) which are endemic to classical type. I, however, have stretchy skin, but not the other issues that go with classical, and I have nearly all the symptoms and issues that go with HEDS.

Nina

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Yep, I was confused by what she said too, because I'd always heard and read the opposite. My geneticist did tell me there can be spontaneous mutations, which makes sense...but multiple kids with a spontaneous mutation doesn't make sense. Hmmm...

Michelle

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Michelle, maybe she meant that they still might carry the gene but just not show any clinical symptoms? I would think having multiple kids with EDS without a parent at least being a carrier would be like getting struck by lightening multple times.

Nina

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Hi,

I thought that EDS ran true to the family, so that a parent wouldn't have one type and a child another type. Unless it's possible that you've got both types running in the family?? My brother and sister show signs of HEDS, too, and my mom, but I don't know who beyond them (though my cousin has it, too) - plus if OI shows up in like 70% of patients with HEDS, then I don't get why I'm the only one with POTS (so far), though I get that the severity might vary a bit.

It does sound a little too coincidental to have multiple kids with EDS and not expect it to be genetic. I thought I read something else, though, that said that HEDS could be either autosomal dominant OR autosomal recessive. Must try to remember where this was. :)

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OK, not sure about all of the new stuff.

I didn't know of either of my parents to have EDS. My mom always said I was double jointed as a kid. I have more flexibility from my waist down.

I'm worried about my son though as he keeps dislocating his elbow, can pull the skin off of his arm and is now having problems with strained muscles and pulled tendons.

3 members of my immediate family have Marfan's which is associated with a connective tissue disorder.

I was told that I had EDS III and then I was told that I had hypermobility joint syndrome.

Have to finish this later on tonight

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Yep, I was confused by what she said too, because I'd always heard and read the opposite. My geneticist did tell me there can be spontaneous mutations, which makes sense...but multiple kids with a spontaneous mutation doesn't make sense. Hmmm...

It can happen as a result of mosaicism. In other words, the mutation occurred in one of the cells in the embryo. The cells that resulted from the division of that mutated cell would have the mutation. So the person's body would consist of a mixture of normal and mutated cells. If only a small portion of the body's cell population contains the mutation, the person might look and feel normal. However, if the gamete-producing cells in the testes or ovary have the mutation, the person can pass the mutation on to more than one child. That's how researchers were able to find the gene for Cornelia deLange syndrome.

The other possibility is that the genetic disorder has incomplete penetrance. In other words, the disease can occur in someone who has only one copy of the defective gene, but there are other factors that could prevent that gene from being expressed. These factors could include the actions of other genes or some environmental factor. For example, if you have the genotype for celiac disease but never eat any gluten, you won't suffer from celiac disease.

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LT, thanks for the genetics refresher ;) I did understand that what you describe is how I ended up with full expression of HEDS, and my sisters ended up with minor expression... i just forgot the technical wording. I was fortunate enough to have taken a great class in prenatal development in college, and the professor was among those who had pioneered chorionic villi sampling.

Anyway, back to the original commentary...

Perhaps the doc who was presenting on EDS was imprecise in her language...it would appear that in order to have MULTIPLE children with EDS, at least one of the parents would need to carry the gene, unexpressed, or carry the ova/sperm with the damaged gene.

Mosaicism could only account for either 1) spontaneous mutation leading to EDS during mitosis in the fertilized egg, or 2) a spontaneous mutation of the damaged eds gene back toward a normal gene... the likelihood that that would happen in multiple offspring is really low.

Nina

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I've been really curious about this, so I contacted the gal who put on the lecture we attended (not the doctor who actually gave the lecture, but the person who arranged it and runs a support group for EDS). This is what she had to say - now grant it, she is not the doctor who gave the lecture, so we really don't know what the doc was referring to, this was just her interpretation of what was said, which was similar to mine:

I have definitely heard of this with Vascular type EDS. It is also

sometimes referred to as mosaicism. It's where one parent has sort of

a partial mutation in a particular gene, which doesn't cause symptoms

in the parent, but then it is prone to transforming into a full-blown

mutation when that parent's cells divide to become eggs or sperm.

So it's still a dominant trait (not like a recessive gene where a

person who is affected with a disease might have a child who is an

unaffected carrier, who could then pass on the disease to affect the

next generation). With mosaicism, there is no family history of the

disease at all. But one parent's genes are such that they carry a

strong potential for spontaneously mutating into EDS. Therefore, it

can happen to more than one of their children, without the parent

being affected.

My impression from Dr. Petty is that mosaicism could happen with any

type of EDS. I do know that spontaneous mutations can happen with any

type of EDS, where neither parent has any defect in any gene, but for

an unknown reason, a mutation happens in the baby's genes and it

develops with EDS.

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That makes more sense to me--thanks for the detective work there norm ;) (okay if you didn't see the movie Fargo, you probably don't get the reference...)

Nina

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