Calling all parents(and beyond)..... I have questions

Types of Avm's Cerebellum & Brainstem
#1

Hi Everyone.
My 7 daughter had a cerebellar AVM that was discovered when it bled on 6-2-11 (she was 6 at the time).
She had a craniotomy to remove the 2 cm AVM on 6-29-11.
She had a post craniotomy angiogram perioperatively which showed they got the whole thing!
She had her first MRI follow up last week- I just got the call that the MRI looked great.
Next step- angiogram for 1 year follow up.
Here are my questions:
1.Should I get an HHT test for my daughter- she has a history of nose bleeds as does her sister- never uncontrollable, but definitely a real thing. Her older sister also got even more nose bleeds- enough to take her to an ENT- she had prominent blood vesssels to explain them....I know that HHT is more often associated with lung AVM, but any one with brain AVMs know about this.
2. Also- trying to figure out if I should have my older daughter aged 9 (once I am done with the one year follow up ...) get an MRI of the brain as well. I understand as a clinician myself that sometimes when you do imaging that you can find things that may or may not be significant that you weren't looking for ... and then you go on a wild goose chase with all the associated panic...I would not risk putting her through sedation, but if she could do it without sedation I am just not sure. The risk of her having an AVM is incredibly small, but if she did and had a bleed I would never forgive myself...but if we went on one of those wild goose chases and I put her unduly through hell I would never forgive myself in a different way.

ONe thought I had was to get the HHT blood test on my 7 year old and if that was truly truly negative than the risk of my older one having an AVM would be even less....

ideas...thoughts.....my head is spinning a bit.

Thank you in advance for taking the time to help me.

#2

Hi Rascalsmom. Try looking into your family medical history if that is possible. Most people on here with the HHT gene discovered other family members who also had AVMs. I just recently shocked some of my cousin’s grown children with some family health info…nothing to do with an AVM. I just assumed they knew their family health history and they did not!

#3

I would say look into family history as well. I had a right cerebellar AVM 20 years ago at 8years old. Since then 2 family member have had a strokes and my mum recalls other family members in the past having strokes.
I know its easier said then done but think about every thing and check all other options as well and you can alway come back here and ask some more advice.
Hope it all works out for you and your girls.
Take care
Brid

#4

Hi
I had a stroke four years ago. Due to a lung avm. I would have loved it if I could have known. I have three children who do have hht. One girl who does not. One of my boys had a cerebral avm. He had surgery. PLEASE GET HELP! My Mom, has it my brother, my uncle, and his daughter. I feel like if I had known I would have made different decisions.

#5

I agree with Barbara, check the family history (thanks Barbara) but definitely have the HHT on the seven year old and go from there. (But I want to say yay about getting the whole thing!) Relax, it'll be ok and no matter what the outcome, we will always be here for you. :J

#6

Thank you all. I talked to the pediatrician and have been in touch with geneticist. I hav an appt the first week of April. I don’t want to keep worrying. I pray that they in no reason to believe she has hht o nothing else- that she tests negative, no other findings and pray her 1year follow up is still avm free…

#7

That's great! I hope that she doesn't have hht either. I'm sorry if I scared you. Having hht just really stinks! I'll be thinking of your family.

#8

Jen-you did not scare me. I know enough about it to be concerned and check it out...though for some reason the neurosurgeon was not concerned. i was the one who brought it up. There is clearly something up with the nose bleeds multigenerational, but I am praying it is totally unrelated. I got a little nervous after talking to the genetics resident, but am trying to keep it in perspective for now - at first I had goal of figuring it out by end of the summer- that moved my timeline to SOON! Thanks!

#9

Sounds like you are on your way to getting more info, but I would find an HHT clinic ASAP. No one told me anything and I found info on HERE that lead me to ask the doctor's about it. Nosebleeds and AVM's are 2 of 4 symptoms, which is probable right there. Good luck. I have been diagnosed and so has one of my four kids. Waiting on my blood test results to see if they found the gene.
Take care!

#10

My appointment is with a pediatric geneticist in Boston-April 6th. Our pediatrician sent us to him thinking he was the best in Boston- which is saying alot!!! I am trying to gather information now to make it a productive one. They stated that they would help figure out about HHT or any other vascular concern that we should have. Both reassuring and terrifying at the same time. My neurosurgeon really led us to believe that once a year went by- if there was no regrowth- we should be able to breathe. I am not sure what I'll do if she does have it! Can't go through this again...but at least we will know. They may take her blood the day of the appointment. I am praying that there is nothing more to worry about. I am so sorry you and your child have the HHT. AVMs are enough all on their own! Thanks

#11

Try not to worry about it. It takes a long time for the blood test to come back. Six weeks for us. Who is doctor in Boston?

#12

Dr. Mulinsky at Boston Medical Center- our pediatrician said they think they are the best pediatric genetics doctor in Boston in their opinion- and they are affiliated with Children's so I think that says alot for Dr. Mulinsky. Thanks for the headsup on how long the test takes. I figured it was sent out, but did not know the timing. thankfully we will know prior to her angiogram this summer...I am trying really hard not to worry. Not so easy. IT is funny that the angst shows in little ways. she is still sleeping with us...she was having a hard time and we haven't had the heart to push her back to her room....small in the scheme of things.

#13

I went to Boston for all my HTT things. I had all my children diagnosed there. I haven't her. I figured there must be lots of people there. I think it's wonderful you will know.

#14

@Rascals_mom Could you tell me the neurosurgeon that did your daughter’s removal? My 9 year old son had an AVM rupture in his cerebellum on December 3rd, 2019. It has been a long 3 months but he has made an astonishing recovery! He is fully walking, talking, and eating on his own. Doctors at first told us that it was operable but they wanted to wait a few months for his brain to heal and settle down, so they had scheduled an angiogram/embolization and surgery for the beginning of February. So in February they did the angiogram and said that they were only able to embolize about 60-70% of it and needed to do another angio/embolization before the surgery, so they scheduled another angio and surgery for last week (beginning of March). He had the angio done on Wednesday of last week and everything went well and they said that they were able to get it about 95-99% embolized. While we were recovering, our neurosurgeon came in and said that he did some research and saw that the mortality/morbidity rate in an AVM resection in the posterior fossa and cerebellum was about 20% which was more than he originally thought, so he started to tell us that he thinks we should now search for a neurosurgeon that has more experience with removing posterior fossa/cerebellum AVM’S and cancelled our surgery that was scheduled for last Thursday… so now we are heartbroken as we thought that this nightmare was finally going to be over and we would be recovering and moving past all of this… :frowning: Can anyone suggest any neurosurgeon in the US that they know of that have successfully removed AVM’S in the cerebellum? We are desperate! Thanks so much!!!