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AVM Survivors Network

Change in diagnosis?


#1

God morning all.
I have posted before regarding my 2 year old who was diagnosed with a facial AVM this June I believe. She was scheduled for her first embolization in August and while the experience was terrifying (doctor told us to expect disfigurement) it all ended up being in vain. The procedure lasted 3+ hours and we went to her recovery room to find her sleeping peacefully. She woke up briefly and was her happy, smiling self and appeared to be in zero discomfort before falling asleep for another 2-3 hours. After waking up again, she was able to eat a little bit and this experience was BY FAR the easiest wake-up/post-op transition. However, we couldn’t see any change in her appearance, so we were kind of confused. As we were getting ready to leave, the doctor stopped in for a few minutes and said that after looking around for several hours, he couldn’t find any evidence of an AVM and so had done nothing during the procedure. I am confused because I don’t understand how a team of 6 doctors, as well as the referring doctors and additional hospitals can look at all the tests (MRI, CT, ultrasound) and say definitively, yes, she has a high-flow AVM in her cheek, and when the time comes, there wasn’t anything he could find? The doctor did not have any more information besides that he could not find any evidence of an AVM and to go ahead and schedule surgery to remove the mass on her gum. We did schedule the removal and she got through the surgery with flying colors and minimal bleeding. Besides a few hiccups (we were told the entire thing would be outpatient, up until she was being sedated and the doctor said that we were definitely not leaving for at least 24 hours. Normally not a problem but we do have another child and additional children are not permitted to stay at the hospital, and we live 5 hours away.) The doctors were able to remove the mass and said that she barely bled, but after having the mass analyzed they have requested that we return to the Vascular Anomalies Clinic for the results. We are headed back in 2 days and I am again nervous at the prospect of yet another diagnosis. The big change since surgery is that while the whole ordeal started with the first lower molar on her affected side, since that mass was removed her upper molar has begun to drop and with that we have seen the very same bleeding, discomfort, and tissue growth that we did the first time. It seems to me that everything points to this being a recurring issue that can happen with each additional tooth that comes in on her affected side. She’s young now (just turned 3) but the thought of her having surgeries and different treatments for the foreseeable future (20ish years) is definitely not palatable. I don’t even know if she has an AVM or something else- I certainly hoped that now 8 months have gone by since the first symptoms we would at least have gotten a solid diagnosis.


#2

Hi.

It was back in July that you first told us about your daughter.

I’d have thought that the CT scan would show up an AVM but maybe a “mass” and an AVM look very similar on a CT. An MRI is a much less clear scan, I believe, so is usually supplemented by a contrast angiogram. Birthmarks / hemangiomas look very much the same as an AVM at the surface, so it seems reasonable to me that the doctors deduced the “mass” might be an AVM.

The doc in August will have been using a contrast angiogram with a view to injecting the embolization material in the right place at the right time back then. That he didn’t find an AVM means that there was no apparent flow of blood directly from artery to vein through the mass and he did an angiogram to check properly. This sounds good to me, as it means there’s no risk of rupture from an abnormal flow.

However, it doesn’t explain what the mass was. So… good news about an AVM, I think. The angiogram done in August should be more reliable than the other scans. But I guess you need to find out what the mass was and whether there are any indications from that.

So good luck for this week! I’m definitely here and listening. I’m sure it’ll be a good thing to know what has been found, though I completely understand your trepidation! Let us know how you get on.

Lots of love,

Richard


#3

Thank you for your comments. We have since done a pulsed-dye laser therapy treatment and met with the Vascular Anomalies clinic. I still feel frustrated because this time the doctors said that an AVM was still a possibility, and not only an AVM but a genetic mutation that could potentially cause numerous AVMs throughout her body and her lifetime. I don’t know if anyone on here has been diagnosed with either of the genetic mutations that we may be looking at but they said that chances were good it is either a RASA-1 mutation or GNAQ. We are currently waiting to have insurance authorize the next surgery and genetic testing on the removed tissue. We are hoping to have that procedure done shortly after the holidays but I have no idea what the turnaround time is for that kind of in-depth genetic testing. From what I understand from the team of doctors, if it is RASA-1, we are looking at a lifetime of recurring AVMs anywhere in her body and most likely this would be passed down to any children she may have in the future. If it is GNAQ they think that it could just be a one-time fluke that is not hereditary and should have no long-term effects beyond having surgery each time she loses/gains a tooth or with any mouth or face trauma.


#5

It’s great to hear from you and I hope getting the insurance sorted works promptly and you get some answers.

Very best wishes

Richard