Thoughts and questions on my experience so far

General
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Hello all,

I joined earlier in the year but have been mainly lurking since. I thought it was time I shared my AVM story so far in case it is helpful to anyone else or if anyone has any advice from your experiences.

I found out I have an AVM in my cerebellum because of my son. I took him to the GP (I live in the UK) when he was a toddler as he had small marks on his skin (some dots and some slightly bigger like birthmarks). They said it wasn’t anything to worry about. When he was 7 I took him again because he had more marks (but had no other symptom which is why I hadn’t gone back sooner). A different GP referred us to dermatology at the local hospital. There we saw a dr who immediately thought it was a rare genetic condition she knew about because she also worked at Great Ormond Street Hospital. After being referred there he had genetic tests – which after some time confirmed he had CM AVM. Pretty quickly he had MRIs on his spine and brain, which were thankfully clear. He now has two appts a year with GOSH as he is just embarking on puberty and there is some concern about hormones.

The rest of the family was genetically tested and fortunately its just me that also have a mutation in the RAS gene. Although I’d had headaches when I was a teenager and both times I was pregnant and still got them now- I still though I would be clear! 8 months after MRIs and CTs I was told I had an AVM in my brain. I then had to wait several months to see a neurosurgeon who didn’t have my MRIs (despite me checking with his secretary a few week before!). Fast forward a lot of poor communication and waiting, the angiogram showed that the AVM is very diffuse and cannot be treated. It also showed 2 aneurysms – 1 of which was quite large and the wanted to treat quickly. After having waited 1.5 years since the initial MRI I then decided to delay the procedure so that I could spend the summer with my children; in case things went wrong.
I had endovascular coiling done at a central London hospital in September and all is ok. I have my next check up after Easter with an MRA beforehand to see how it is holding up and whether I need further treatment. I think it more of a when rather an if that I will need further aneurysms filled. As they have said – they are treating the symptoms but they can’t treat the cause.

A few things to share
• I used the Barrow Second Opinion service. It was very straight forward and for 99USD I was able to get a second (and third) opinion without feeling like I had undermined my NHS team in the UK. Although I am not sure what I would have done if their opinion contradicted what I had been told, it was really reassuring to get that second opinion.

• The NHS has been quite mixed. The communication and waiting has been poor. (eg I got an app notification to say my procedure had been cancelled the day before it was happening – after 90 mins of phone calls and trying to find out what was going on, it was a mistake!). However, the care/people I have seen has been good. I am grateful that I was born somewhere I can get access to this care without being bankrupted.
• I am still coping with the swings between wanting to make the most of every second (now knowing I have a timebomb in my head that cannot be fixed), wanting to run and hide from it all and having to get on with the everyday domesticity involved with having a family and working.
• Knowing my son may face a similar future and the uncertainty that goes with that is tough but he is fine now so I just focus on that.
• I am very grateful that I have no significant symptoms beyond my poor balance.

Questions:

  • I am 44 and so likely to be hitting peri – menopause in a few years (if I last that long). I can find very little info on this. Can anyone point me in the direction of any resources or have any experience?
  • If anyone has CM AVM I would be interested to hear from you and whether there are any changes you have made me to you life.

Thanks to all the moderators and others who keep this forum going.
Sending love and hope to all.

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Hello @MKMO!

I’m glad you found us and I hope we can help you a little along the way. I think I could summarise my NHS care in a similar way!

I’m not sure I’ve read of anyone else describing capillary malformation-AVMs but I would say that you have things in common perhaps with other RAS genetic AVM members and I’ve seen one or two others with a diffuse AVM recently, so you definitely have a friend or two there. Have GOSH mentioned HHT at all? I don’t know how RAS and HHT might or might not be linked but HHT is hereditary haemorrhagic telangiectasia and it is the telangiectasia that are the spots that you see on the skin or mucous membranes that sounds similar to CM-AVM to me. So you may have something in common with the HHT family here.

With regard to going through treatment for aneurysms, we do have a sister forum at https://bafsupport.org and you’ll find the people there much more familiar with the treatment and effects of brain aneurysm coiling, review, etc. Do feel free to join that community as well as being here.

I hope some others will introduce themselves as well. Welcome!

Richard

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Hi there. Just thought I’d reach out to let you know my experience of having an AVM and going through menopause. Despite menopause being more talked about that ever before I have found information about AVM and menopause to be very limited still. I started having some symptoms a few years back and at first thought they were just down to my AVM. Eventually I decided to ask if it was safe for me to take HRT. Despite my GPs reluctance to prescribe (and after 13 months of arguing) I sought opinions from my consultants and their advice was ‘no reason why not’. It fact they thought it might be a good thing!

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Thanks very much @DickD. I really appreciate your response. GOSH haven’t mentioned HHT but I was aware of it and they have said they will be referring my son to Claire Shovlin when he is older and she is a specialist in HHT - so I guess we will find out more later!
And thanks for the referral to the other group.

And thanks @Lulu1 for sharing your experience. My neurosurgeon has said I can take HRT after my GP said I must check with him. But I am not convinced there is much known. My GP is asking the person who is the BMA lead in the area on menopause so I will post on here if I find out anything useful.

Thanks again.

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Thanks a lot. That would be really helpful.

Lulu x

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Hi there!
While I am fairly young and a male, therefore unable to answer the first question, I can answer the second one!
I don’t have CV AVM but I do have HHT, which reading through the comments I see you are familiar with, and from my understanding your son will be seeing an HHT doctor. HHT and CV AVM are super rare as I’m sure you know, and range from a variety of severities.
I am located in Canada, so I may not be much of a help with systemic related questions, I certainly do know a lot about the disease itself!
It’s hard to come by other with genetic AVM conditions, so we gotta stick together. The biggest issues personally I have had related to HHT are infection and nosebleeds. Regular testing is your friend, and if nosebleeds become an issue, there are many ways to get rid of them.
I’m happy to help with any other questions, or to just chat and share my experience.
Best of luck to you and your son!

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