Me and my 14 year old daughter are waiting for results to find out if we have ehlers-danlos. The genetisist told me that she thinks we have classical or vascular. I was told a few days before xmas that my daughter has a brain avm in the splenium. We have been given no support, doesn’t help that this happened on the last day of the neurologist being at work before xmas. The neurologist also said that the genetisist believes we have vascular eds. The hospital are having a neurovascular meeting in January to find out where we go from here.
Welcome to AVM survivors! I hope you will find some of the answers you’re looking for here. If you’ve got questions about the AVM stuff, feel free to ask anything. We are not doctors but we will have been through some of the same things, so can share our experience.
In regard to the EDS, Ben’s Friends do have an EDS support group, though it looks less active than the AVM community, so do join that at some point. The wider implications of EDS will be known to some of us (I am sure we have at least a couple of EDS AVMers here) but I would hope you’ll find more information on the EDS site.
The absence of support is not 100% surprising to me. I think the NHS does the basics very well but is focussed on the next person rather than looking after each person to the extent that we would like. The pressure of Christmas holidays will have played a part, too. I hope you get better support in the New Year, though winter is always a challenging time.
We’re here. Ask anything.
Very best wishes,
Thank you for your message. It is hard to get answers to some questions from a reliable source on the Internet and because both conditions are rare, some healthcare professionals can’t help
Well, I hope we can tell you a bit about the AVM side of the equation. The prevalence of AVMs is similar to EDS, depending on how rare a type of EDS you have but I feel we know plenty about AVMs here.
However, how treatable your daughter’s AVM is may very well be affected by a diagnosis of vascular Ehlers Danlos Syndrome so any experience we are able to share could well be wrong for her.
I’ll have a look to see if I can find some other EDSers here…
I knew I knew another EDSer! @Angela4 and her family are diagnosed with Ehlers Danlos, though may not be the same sub-type as you. Angela is a great contributor to this forum. I am sure she’ll share her experience.
Very best wishes
@Kirsty79 Hello and welcome! Glad you found this support site- everyone is great.
Thank you @DickD for the tag - Good memory!
I do have Ehlers Danlos - I have the type that they have not found the gene marker Type 3 HEDS for yet but I do help people with other kinds of EDs.
Its a lot to digest at once and from my experience on the support sites- the UK does not have great drs for EDs not that there are too many great drs anyway for EDs even here in the USA. Most are on the East coast and I am on the west coast. So I have had to do a great deal of research and my doctors actually say I know more than them and now I actually believe them in some cases.
Some people can actually have more than one type- - Ask if they are doing full genome testing or just testing for Ehlers Danlos genes and They just found a new gene recently Dr Joshua Milner from NIH.
My personal observation is there is a link between EDS and AVMS/DAVFs types - My stroke doctor is dismissive as most neuros are…
If you dont have a Facebook account - open one-
Join this facebook group
I am Koko White on Facebook as I have a stalker and you will see a cat face as my image
Here is the ehlers Danlos Society webpage- https://www.ehlers-danlos.com/patient-support/ They recently redid it and I dont esp like it- I can send you some better links-
This group puts on free webinars almost monthly and you can search old ones - https://www.chronicpainpartners.com/webinars/
Here is the Ehlers Danlos UK webpage https://www.ehlers-danlos.org/
Even if you guys test neg for EDs - There are over 200+ connective tissue disorders (acquired ie Autoimmune) and inherited (ie sticklers, marfans, EDS, loëy Dietz).
EDs is mainly an issue with collagen which is used by almost everything in our bodies. Bones, blood vessels, veins, eyes, vocal cords, muscles, skin etc.
If you want to send me a private message we can chat more there - and I can give you my email and my phone number.
I know this is a great deal of information and the genetic testing can take awhile to get back.
You should also ask to be tested for von willebrands that often goes with any type of EDs. Its a type of bleeding disorder.
Hugs and hang in the there
Thank you for your help Richard. I have sent Angela a message
I’m so sorry to hear what you and your daughter are going through.
I developed a DAVF when pregnant with my first child. My doctors referred me to a geneticist to be evaluated for vascular EDS, but the wait was almost 6 months - which felt far too long for me!
I ended up doing a home DNA test (by color genomics), which tests for mutations in the COL3A1 gene, which is the gene responsible for vascular EDS. I do not know how the accuracy of this home test compares to a laboratory test that your hospital might do. And I don’t think color genomics tests for other types of EDS. But I got my results in about 3 weeks and it was less than $200. Thankfully my results were negative. But knowing either way was definitely worth that money! And I am still planning to meet with the geneticist when my appointment gets here…eventually. Anyway, just wanted to let you know that this is an option that is out there.
Truly hoping that you are both negative for vascular EDS and other connective tissue disorders and that your daughter’s AVM can be treated soon!
Thank you for your message. When I phoned up genetics to see how long it would take for an appointment to come through as I had already waited about 3 months, I was told I would have an appointment in next couple of weeks or so but I would be seeing a counsellor and my daughter a consultant. We wasn’t even put down as related. I was then told another time that there was a 9 month wait. Due to the gp not sending me for further tests when I suspected an aaa, i was able to jump the queue with genetics. I should have the results back from lab in January. Glad you got a negative result from your test. I didn’t know that you could do it that way
My AVM’S were due to being a preemie. I have been told by my Drs at Cleveland Clinic. How true this is.???
My daughter was only 1.5 weeks early
Found this news article today, which is EDS and “invisible disability”-related.
Luckily so far when I go out with my daughter in her wheelchair, we have not had any problems. We do notice a difference with people stopping to let us cross the road. If we are not walking very far then my daughter won’t use her wheelchair but we may park in a disabled bay with her blue badge. I am surprised nobody has questioned it as ‘she doesn’t look disabled’.
It’s a very very common issue of people not understanding, as illustrated in that story, so I am sure she will come across all kinds of reaction from people over time, unless we really improve education & understanding in society much better than today. I do think things are going the right way in that regard.
@Kirsty79 Its pretty common with EDs not to look Disabled - I have had only one man knock on my window to yell at me. I am Italian and worked in trading and lets just say he was sorry he ever knocked on my window to yell at me for parking in disabled parking.
Its almost a daily complaint on the EDs support sites - so I hope you never get questioned. Some people even print up info sheets on EDs to pass out. Or have info on invisible diseases just like AVMs are invisible too.
People just need to be kind and I just assume everybody is doing what they should be doing in the first place.
Printing out information sheets are a good idea. I will give them s few words instead of that
I have found out that ‘professionals’ have spoke to a social worker thinking that I was ‘fabricating’ about my daughters health. I think it was the school but not sure if anyone said the same.
Maybe the news story link above can help you tell the story. It is often challenged when people have any kind of invisible illness.