Re: Question - Ehler's Danlos

[Guest guest]

Yes, I have. In my case it seems clear that my mother's family has the

Ehler's Danlos gene (even the stretchy skin) and my father's family has the CMT

gene. My sisters and our children all have both. So much for that 50-50 thing.

[Guest guest]

Do you know much about Ehler's Danlos? All I learned was that due to my

" double joints " (I have nine of nine of the tests - in 2003 it was diagnosed

as 7 of 8 but apparently orthopaedics makes huge leaps in just a few years

like neurology!) it is Type 3.

Some of the symptoms that people talk about on seem similar to Ehler's

Danlos - the dislocated knees, hip dysplasia, easy bruising, joint pain.

I wonder, as they both relate to protein formation in the body, could there

be a relation - as in could ED+CMT actually just be a CMT subtype?

Thanks for emailing back, either on or offline, what you know about ED. The

sites say many scary things, such as pregnancy is a high risk activity... I am

just wanting to understand things better.

Thanks,

Donna from London

[Guest guest]

I'm in shock right now!!! The last time I went to MDA the doc said " I don't

think you have CMT 2 " but then never said anything more. I think I have Ehler's

Danlos...help now what??? I think I'm lost!!!

Geri

[Guest guest]

Hi Geri,

Please don't worry - and definitely do NOT self diagnose. I have a friend who

researches every ache and pain herself and it causes her stress to go so high...

And stress is the last thing people with neurological conditions need - we need

calm nerves not anxiety!

Now, for my own situation, I can say that I rely on doctors - no matter how much

by chance the diagnosis is...

Apparently skeletal doctors spot Ehler's Danlos. The symptoms do not

include high arched feet. In 2003 I went to a skeletal doctor (orthopaedic) to

look at a way to stabilise my foot and get rid of foot pain I was having when

walking - I wanted to use good fitting orthotics, but when they saw my feet the

high arches led to the neurologist. Sure, the doctors at the time noticed my

hypermobility (bendy joints) and I was supposed to get a follow up with the

leading hypermobility guy in London, but I never chased it as it

was not a priority (getting shoe inserts was though, therefore the focus on

neurologists as a result). I am really active and I wanted to make sure I had

the equipment in place so that I could stay that way. I also wanted to make

sure I stayed fit as without exercise I am lacking energy, more easily moody,

and I was noticing weight gain...

Anyway, I went along just fine with my CMT diagnosis. Only because I

dislocated my elbow in June did I have occasion to visit an orthopaedic again.

He happened to be recommended by my neurologist and he has some experience

dealing with hypermobility (or as they now call it hyperlaxity). Note that

hypermobility was never noted on my records I just remember the conversation

with my orthopaedic, so I knew it was important to mention this as a joint

injury I figured could impact someone with loose ligaments differently than

others - and the treatment may vary. Anyway, the elbow doc told me that not

many doctors spot the symptoms, and definitely not neurologists (it is a

skeletal issue with ligament / collagen formation). He says that is really

because only since the late 1980s has work been done

to understand hypermobility. My doctor is very good, so he put a label on it -

I had always thought it was due to CMT somehow.

My neurologist clinic says not to accept a label quickly without genetic

testing, especially since maybe hyperlaxity and loose ligaments is a sub type

expression of CMT. I told them I would never do genetic testing unless I could

control the use and storage of my DNA, which they have now arranged for. So

that is in my future. My next challenge is making sure that the ED tests are

run too.

For now all I do know is the label for hyperlaxity, the type he says I have (I

don't have thin skin or bruise easy so that means Type 3 I think), and the fact

that many people on this site talk about dislocating knees and joint pain. It

makes me wonder...

Good luck with it all!

Donna from London

[Guest guest]

Thank you Donna...

I was wondering! I have high arches...so I guess it is some kind of CMT always

thought it was CMT 2....I will have to talk to the doc again.

Geri