Afraid of vEDs

[Apaigemarko]

Hi all,

I’m looking for some insight or opinion from those who have been through this. I am 23 years old and am currently looking into genetic testing after being diagnosed with PoTS. I’m 5’9 and relitively skinny weighing in the 130’s. I have been extremely Hypermobile my entire life including my fingers wrists, elbows, and shoulders. My skin is fairly stretchy. Recently I’ve been diagnosed with a venous insufficiency but they told me that it was a result of my PoTS. I noticed I have faint blue sclera of my eyes, occasional tinnitus, joint pain and tmj... I have never had any serious issues other than migraines, and non severe bowel irregularities. I have had a lot of x-rays of my chest, echocardiograms, and CT scans due to my PoTS and migraines. I have always been told that there are no abnormalities. A lot of my issues they say is because of my PoTS. I have a child last year vaginally with no issues with a very fast labor and delivery of 4.5 hours I do not have translucent skin (but you can fairly see some of my veins) or the physical characteristics associated with vEDs, but I do have one aunt who passed away of a brain aneurysm during surgery at 40. She suffered a lot of abuse from her husband and smoked a lot— that’s what they attributed it to. Her child had a son with club foot. Is it possible to have clubfoot with Hypermobility? No one else in my family have any issues other than joint pain and my aunts have migraines. My dad has 6 siblings, and each sibling had at least 2+ children. One aunt= 4 children, one aunt=3 children, 2 aunts= 2 children, my uncle = 2 children, my dad= 4 children... My dad and uncle are 50 and have never had any issues. Is it possible vEDS runs in my family and they have all been extremely lucky to not have had any sort of rupture thus far? Or is it likely another form of EDS? Any advice is appreciated. They can’t get me into testing until May and I am driving myself mad thinking about possibly having passed this on to my son.

[Jay66]

It is more likely not to be vEDS if nobody had died youngish - and many people with hEDS have some overlap with vEDS signs; there is a lot of overlap generally with eds which has clouded diagnosis in the past, which is why some people need genetic testing to rule out the rarer eds types.

There has not been a link to clubfoot which I am aware of (although there was one case in my carrier side family) unless anyone would like to correct me? Edit - there is a connective tissue genetic defect which causes a tiny proportion of clubfoot cases - most just happen for no reason - and which is linked to eds, but really rare. ncbi.nlm.nih.gov/pubmed/208...

Try not to worry between now and May - worrying won't help anything and is a waste of energy. There is nothing in what you say to suggest vEDS over hEDS.

Most people with hEDS find it manageable, especially if diagnosed young, and males don't seem to suffer as much as females. Once diagnosed you can get genetic counselling on the NHS if you want it before planning additions to your family.

[Apaigemarko in reply to Jay66]

Thank you so much for your quick response! It made me feel more at ease. There are no early deaths in my family... 40 being the youngest. It is just so nerve wracking waiting!!!

[Jay66 in reply to Apaigemarko]

Another positive sign is your hypermobility and stretchy skin - vEDS tend not to be, so these are more suggestive of hEDS and cEDS.

[Apaigemarko in reply to Jay66]

I have also wondered about cEDS as well. Thank you! I really appreciate it.

[gillianTS]

Hi Apaigemarko

Just wanted to comment on the TMJ, after suffering horrendous headaches, face, ear and jaw pain I was eventually sent to a oral and maxilliofacial consultant who spoke about TMJ we decided for me to have a mouth splint moulded, I was not sure because this had been going on for quite a while and nobody could help give me an answer, sounds silly but I was convinced I had a brain issue and something awful was going to happen, anyway the splint was made it took a little getting used to but boy has it made a huge difference, hardly ever get the levels of pain and discomfort now, should I fall asleep without it then I know about it... the consultant told me I was clenching my teeth so tightly this was what was causing the problems, I had no grinding going on with my teeth just the terrible clenching but what has improved is the pockets I had around some of my back teeth, my dentist has seen an improvement 🙂

[Apaigemarko in reply to gillianTS]

I have a mold that I wear at night for my TMJ. My pain is also a result of clenching my jaw. And it doesn't sound silly because I've been there!! Thank you for your reply!

[gillianTS in reply to Apaigemarko]

I spoke to my dentist the last time I was there because sometimes I feel I am getting the pain in my head back again he told me I could have another splint made which was made from a different material but I would have to pay lots more for it and I felt reluctant to go down this avenue until I feel things have got to a place where it is all the time.

Not sure whether your splint is upper teeth or lower, mine is lower, dentist said I could also try one on the top teeth if I wanted, removing the bottom one.

Take care

[AliPixie]

vEDS is pretty rare, I had the genetic testing due to physical characteristics and several family deaths from aneurysms and strokes but thankfully only have hEDS. The geneticist I saw said that vEDS normally has less dislocations /outward hyper mobility and usually always has the very translucent skin. Hope you get your results soon to put your mind at ease xx

[Apaigemarko in reply to AliPixie]

Thankful that you do not have that type. I'm hoping that is the case for me as well. I am very hyper-mobile and no not have translucent skin. I don't have very frequent dislocations though. Thank you for your reply.

[Itsallinthehips]

My dad had club foot very bad when he was born , I’ve been diagnosed with hyper mobility and I’m about to have the testing for Eds. My dad died of 3 brain tumours aged 55 , he had 10 brothers and sisters all died before 55 except one.

I didn’t even know there was any kind of link. Does anyone know the best place to look for information on this

[Jay66 in reply to Itsallinthehips]

Rather than start guessing, wait until you find out what eds you have.

If it is hEDS then there will be no link to your aunts and uncles' early deaths. There is no link between any form of eds and brain tumours.

The only eds which shortens life span on average is vEDS and sufferers often don't show much hypermobility at all. vEDS is very rare and is usually spotted because of the see through skin, vein problems and a set of facial criteria which I cannot see even when I know what I am looking for.

Remember that people with eds get just as many other diseases and conditions as non-eds people, so there isn't always a link. Your family could easily have just had bad luck or unfortunate genetics.

I get cysts and have diabetes, for example, but neither one is related to eds. On the other hand, I also have mcas, tmj, dysautonomia, psoriasis and anxiety attacks, and all of those are linked to eds although nobody knows what the exact link it.

There is lots of info here-

edhs.info

and here

ehlers-danlos.org/what-is-eds/

[gillianTS in reply to Jay66]

I agree with Jay it is important to wait until you have had your correct diagnosis and the fact so many of us have other medical issues some of which are associated with EDS and others not.

According to the following this is what it says regarding club foot and type of EDS associated with the condition:

Musculocontractural EDS results in distinctive head and facial

features; multiple deformed and rigid joints at birth, including

adducted thumbs and club foot; characteristic skin features including

fine palmar creases; peculiar finger shapes; progressive spinal and foot

deformities; large subcutaneous hematomas; and ophthalmological

and urogenital involvement. Full details in link below:

ehlers-danlos.com/wp-conten...

Also the following also associates club foot with EDS:

nature.com/articles/srep39636

[Itsallinthehips in reply to Jay66]

I wasn’t even jumping to anything?? I was asking a question, I’ve never heard about club foot being vEds so I wondered if my dad could of had it and wanted to find information on it. I don’t think I have it it didn’t even enter my mind.

I was just giving the poster information like they did about the dealths

[Itsallinthehips in reply to Jay66]

You also don’t even know what I have , I have multi other conditions to this is just the newest in a long time and wanted information on something I’ve never heard before.

I have since done done research anyway so thank you

[Apaigemarko in reply to Itsallinthehips]

Thank you for your reply. The only early death in my family was at 40 during a surgery to coil an aneurysm. All of my other aunt/uncles are in their very late 40's and 50's. My grandma is in her late 70's, but my grandpa just passed away in November from dementia. One of his brothers had a heart attack in his late 40's due to drug use. I've read that there is a link to clubfoot and vEDS which is why I was worried about having because there is one case in my family.

[Jmeds3]

I have C Eds maybe look into that it’s more common than Veds