Angioma Alliance

Kristen: no, I haven't right now she's fine and developing ahead of schedule. My main concern is how I will treat her if I find out she has CCM's. I might treat her as if she's more fragile

Kristen: It's a tough call

Norma: That is a legitimate concern

Connie: Actually, what I run into is how others treat her - right now the nurse at school is trying to convince me to put a helmet on Julia for PE.

Norma: what does PE consist of nowadays for her age?

Kristen: wow, that's crazy. I can see not wanting her to do header balls in soccer or play football but regular recess should be fine

Connie: It's hard to convince others that it's ok for her to get a bump on the head. She got knocked in the head the first week by a soccer ball. Last week, one of the other kids bumped heads with her by mistake.

Connie: Nothing she doesn't experience in her time away from school.

Connie: But, noone wants anything to happen to her on their watch - and I can understand that.

Kristen: yes, I can understand not wanting a child to be hurt on your watch but at the same time she needs to not be made to be different from the other children

Connie: And I do treat her differently than I would a child without CCM. I watch her like a hawk for neuro signs, I don't let her go upside down for long if I'm around

Jenny entered the room.

Norma: Hello Jenny

Connie: Hi Jenny

Jenny: Hello

Jenny: Has the chat just begun?

Connie: So far you're the first outside of board members - but we had already starting talking a little

Norma: We were waiting for others to join us; we've been chatting amongst ourselves about our chidlren and Halloween, etc.

Connie: Jenny - how old is your child?

Kristen: Hi Jenny - welcome!

Jenny: she is 16 months old

Connie: Has she been diagnosed?

Norma: What's her name and has she been diagnosed?

Jenny: yes, at 9 months she has an agioma next to her brainstem

Jenny: her name is sage

Connie: What have the doctors told you so far?

Jenny: they do not want to operate only under emergancy circumstances. she has had a brain hemmerhage and a stroke when she was 9 months old

Connie: How are you coping?

Kristen: that sounds very scary - how are you handling it?

Jenny: its very hard i just take it day by day, yes it is very scary especially when she had the bleed

Norma: Do you have other children?

Jenny: yes sage is my second my first daughter is 3

Jenny: have any of your children had physical disabiites as a result from their angioma?

Kristen: everybody in my family has angiomas and I have a 10 month old but I haven't had her checked yet.

Connie: My daughter Julia was diagnosed at 4 months, has multiple CA's, 4 brain surgeries - she's now 5. She has minimal physical deficits. Hers are more subtle - attention, impulse control, mild seizure disorder

Connie: She has a fine motor deficit, but that seems to be getting better.

Norma: My daughter is 18 years old; she had one surgery at age 7. She has some balance issues--which she can control if she takes her time. She has some vision issues. Attention is an issue.

Connie: Julia woke up paralyzed in her right leg after her 1st surgery - but she regained use of it with PT.

Norma: My daughter's, Stephanie, angioma is also on the brainstem.

Jenny: my daughter has lots of trouble with her balance and is unable to walk so far. she also has vision loss and ulcers in her right eye as a result from the angioma.

Connie: Does your daughter have physical deficits already?

Connie: Sorry didn't read fast enough...

Jenny: that's ok!

Connie: What do you mean by ulcers?

Jenny: their called neurotrophic corneal ulcers which are caused by the angioma pushing against her optic nerve and results in the eye not having any sensation so its prone to ulcers and infections

Jenny: right now her eyelid is half sown shut so she is having problems with her depth perception. but she's such a sweetie and doesn't even notice

Norma: the bleed was recent?

Jenny: when she was 9 months old but it took her till she was 12 months for all the blood to resolve

Norma: I misread, I thought Sage was 9 months old at the present

Kristen: Is she in physical therapy?

Kristen: for walking I mean

Kristen: or does she have a walking device that might help her balance?

Jenny: yes she gets pt , ot, and speech twcie a week through early interventions but they think her balance is too off for her to be able to walk yet and the pt wants to hold off on getting her a walker till she's 20 months old

Kristen: well, it sounds like you're on top of it! Sage is lucky to have a mom like you

Connie: I'm so glad you're in early intervention - so many of us didn't know it was an option until pretty far into it.

Norma: Indeed!

Jenny: they've been great i don't know where she would be right now if she wasn't in therapy!

Norma: Where do you live?

Jenny: i live in skokie, illinois

Connie: You're Jenny from the conference?

Jenny: no i just found out about angioma alliance about a month ago

Connie: Bummer - there was another mom there named Jenny - I thought it might have been you. I'm sorry you didn't know about us in June.

Jenny: i know i found out from tracey at duke university who is helping with a genetic stduey and she told me there was a conference right here in skokie!

Connie: Yes, our first and only so far. Tracey is great BTW.

Kristen: does Sage have multiple angiomas or is it solitary?

Norma: Kristen beat me to the question. I'll just add: do you know if other family members are affected?

Jenny: tracey is so sweet and helpful . no sage just has the one big nasty one in her brain my older daughter has an agioma on her back but she's never had an mri done .

Connie: Are you thinking about having her receive an MRI?

Jenny: yes i want her to have one done but i have an hom and my family docotr told me i have enough to worry about right now but i really do want her to get one done

Jenny: i remember thinking when sage was born "great she doen't have a big angioma on her back like her sister!" boy was i in for a shock when i found out she had one in her brain!

Connie: And it doesn't run in either you or your husbands family?

Kristen: My doctor told me that strawberry hemangiomas and brain angiomas aren't related. Anda has a strawberry hemangioma on her back. And everybody in my family with brain angiomas never has had a skin hemangioma?

Connie: Kristen, about 10% of people with cavernous angiomas also have skin hemangiomas. There can be a relationship

Connie: It's particularly true with the KRIT1 mutation, but can happen with others too.

Connie: We have a mother who's involved with fundraising for us who has 2 sons with angiomas. The second had a skin lesion on his foot that had to be removed, and also has 2 in his legs.

Connie: For me, it would make it more of a priority to have the MRI

Kristen: I think I just don't want to sedate her right now when she has no symptoms

Kristen: plus, like I said earlier, I'm afraid I might treat her differently

Connie: You're right - that can be hard. And if she's symptom free it makes sense. Your family also doesn't tend to become symptomatic until adulthood. That probably makes it easier to wait too.

Jenny: that's how i feel but my family doctor is really protective of me for some strange reason and he just doesn't want me to get upset i guess. but i do want to know since sage took me completely by surprise but i too also want to wait till she's old enough not to have to be sedated.

Kristen: There's definately pros and cons. If surgery has to been done, it's better to have it at a younger age because they bounce back quicker. But if there's no symptoms?

Connie: And Jenny - you can trust your gut if you notice something different about your older daughter. You can always ask for an MRI if you see something's not right.

Jenny: i agree now i know what to look for! i was hoping and praying they would do surgery for sage and i'm very sad they don't want to do anything.

Norma: Do you know the size of the angioma?

Kristen: how many neurosurgeons did you meet with? You could always get a second opinion if it would make you feel better

Jenny: i think it's either 16 mm or cm but i forget which one it is

Connie: Julia's 2nd surgery was done without symptoms - the angioma was very easy to get to, was 2.5 cm, and would have caused pretty bad deficits if it had bled again - but I

Connie: 'm still not sure we did the right thing.

Connie: Jenny - its 16 mm.

Jenny: ok thanks i lived in canada for 7 years and i still don't know the metric system!

Norma: Jenny, Kristen is right--you can seek a second opinion, even third

Jenny: i'm in the process of seeking out a second opinion since thats what my brother who's a family doctor told me to do

Jenny: are any of your children living with angiomas that can't be operated on?

Kristen: that's great! I'm a big one for lots of opinions

Norma: Sounds like you have a good family support system. That's so important.

Jenny: tell me about it! i would have never made it through the dark hours without my family.

Connie: Julia has a couple of small ones that they would never be able to get to, but they are not causing her problems that we know of.

Jenny: thats' great to hear!

Kristen: I have a bunch that are too deep and they want to leave alone. But no major symptoms yet!

Jenny: i'm happy to hear that! when did you find out you had them?

Connie: Norma, is Stephanie's considered inoperable?

Norma: Kristen, do you wear prism glasses? Or, is it Krista?

Kristen: 2 1/2 years ago

Kristen: It must be Krista

Kristen: Prism glasses didn't help me

Jenny: what are prism glasses?

Norma: Stephanie's isn't considered inoperable. It's big at 3.2 cm but, it isn't causing any new problems nor is it worsening existing deficits.

Connie: I have a question - I am still not sure how/when to tell Julia the full story of her illness. Any thoughts?

Kristen: correct me if I'm wrong, because I've had them but I'm not sure how they're different from normal glass - prism glass are supposed to help the eyes focus better as a team

Norma: This is a very basic definition, at best, but they are glasses with prisms in the lenses that bend images/light and can sometimes help with double vision in that they help the eyes focus better, as Kristen says.

Kristen: Gosh, that's a tough one because it has to be age appropriate and for her age - how much is too much to tell?

Connie: She knows that she had 1 angioma removed because she remembers the surgery. She knows she gets "pictures of her head", but she doesn't know that she has an ongoing illness.

Kristen: you don't want to scare her

Jenny: i'll ask sage's opthamologist if that may help sage. as for telling her i'm struggling with that issue too since sage too will need to learn of her angioma

Norma: I agree with Kristen. You don't want to scare her but, if she asks a question, it should be answered--in an age appropriate manner, of course.

Norma: ON the way home after Stephanie's diagnosis (and some tears shed in the neurosurgeon's office) she turned to me in the car and asked point blank: I'm going to die, aren't I?

Connie: Once when she asked about Angioma Alliance, I told her that I help other people who have what she has. She looked scared and said something like "I have it?' So I backed off immediately.

Connie: Norma, that's awful - how did you answer her?

Kristen: Angiomas are pretty scary things and I don't like to think of these things bleeding in my head so I don't know if I would tell Anda the whole truth for quite a while

Jenny: that must have been so difficult for you.

Kristen: I might say something like the pictures are to keep you healthy

Jenny: i tell rio not to push sage hard or anything that would make her fall since she has an "owy" in her head. but rio knows since sage was in the hospital for almost two whole months

Norma: It broke my heart, of course. I looked into her droopy eyes (droopy from the bleed) and told her that we were getting the best doctor possible to find out about her illness and to do what we could to get her better. Or something like that...the question caught me completely off guard

Connie: Good answer, especially considering the timing

Norma: Jenny, does Rio ask you questions about Sage?

Connie: Julia is very happy to take her anti-seizure meds, but I know that she has no idea what a seizure is.

Kristen: "seizure" is such a scary word considering that it can mean so many different things

Jenny: its sad in a way but both rio and sage are not afraid of the hospital since they are both are so used to going there for sage it helps because the staff knows my daughters as well.

Connie: I think what's hard too is that her cavernous angiomas scare me so much - I'm so afraid she'll sense that fear.

Jenny: i feel the same way i now that if sage sees me scared she won't ever belive me when i tell her not to be scared

Connie: 2 years of therapy and it still isn't all better

Jenny: and i'm scared all the time!

Norma: Exactly, Connie! That still concerns me. With the most recent trip to the ER a few weeks ago, I had to do my best to keep myself in check because I could see that Stephanie fed off of my reactions

Kristen: that's what I'm afraid of with Anda. I get scared when My body goes numb. I would be TERRIFIED if anything happened to her!

Connie: It's weird - I'm not scared in the moment when something happens - I'm terrified about her future.

Jenny: me too i'm always thinking about that.... the future...

Norma: I have to admit to experiencing some degree of fear every day.

Connie: And that may be mostly because I don't know what its like to live with this illness myself.

Kristen: I think having it yourself is a LOT easier than having a child with it

Connie: I think you're probably right.

Kristen: because you have control over your thoughts and feelings but a child seems so helpless

Jenny: i coudln't tell you what a relife it was for me to find this organization on the web one day and find out that there are lots of adults living with this and living full lives

Kristen: My mom had a brainstem angioma and she's almost 60 and doing fine!

Jenny: that's wonderful to hear!

Norma: There are some pretty amazing members in our forum

Kristen: My great aunt has over 50 angiomas and she just turned 86!

Kristen: so there's lots of hope

Jenny: its just hard since no one talks about this and no one knows so no one can tell me anything useful for me about sage!

Jenny: i'll think about you and your family members living well whenever I get sad about sage

Kristen: most of my family members with angiomas lived into their 80's and died of something else That's why I had Anda

Connie: I can tell you that for me the 1st six months after a bleed, I'm incredibly hypervigilant, waiting for the other shoe to drop. With time though, I calm down - it's possible to live with this as a mom too. Every passing good day makes it easier.

Connie: As long as I don't think about her future...

Norma: Jenny, you can inform yourself about the illness and talk with other moms like us to help get through a bad day, etc. But, like Connie, said earlier, you will know, instinctively, when something is wrong.

Jenny: Connie you made me laugh! i'll think about you and your family members living well whenever I get sad about sage

Jenny: yes i'm so happy to have found this organization it has really hlped me put things in pespective.

Kristen: As a special education teacher, I saw so many children with all kinds of disabilities who were leading amazing lives. Children with severe disabilities! So there's always incredible hope. But the unknown is very very scary.

Norma: In retrospect, I think I was far too protective of Stephanie as she grew.

Connie: I'm glad you're getting a 2nd opinion to put your mind at peace about the best thing to do.

Norma: It affected her emotional maturity and her academics. But, that was this mother's reaction. If I knew then what I know now, I might have reacted differently...if even slightly so.

Connie: The decisions we have to make for our kids are impossibly huge - it's good to have more than one expert opinion to lean on.

Jenny: that's very true!

Kristen: how can you not be super protective? That's your baby! That's why I'm afraid to have Anda tested. It would be very hard for me not to be overly protective. I'd be talking to Connie a lot!

Jenny: Kristen now you made me laugh!

Norma: Jenny, I'm glad you're laughing!

Norma: Best therapy...

Kristen: it's true though, heh!

Jenny: i agree!

Connie: Jenny, do you have any questions that you'd like to pass on to our experts?

Kristen: I wouldn't let her wear a helmet in PE though

Norma: LOL!

Jenny: i guess i would just like to know if given her current situation of chronic corneal ulcers and trouble with her balance and diffciulty swalloing thin liquids if it is a wise descion to not operate?

Connie: If you like, I can try to help you find another opinion from one our scientific advisors. Norma, I'm also going to try to get a hold of 2 psychologists who have written a book called "Adaptation to Chronic Childhood Illness" to see if they'd be willing to serve as a resource.

Connie: Jenny - who have you seen so far and who is your 2nd opinion with?

Norma: It would be great to have a child psychologist(s) available as resources.

Jenny: That would be great Connie I appreciate it very much. I have seen Dr. Tomita at childrens hospital in chicago and her current doctor is Dr. Anderson at Loyola here in maywood , IL

Connie: I'll see who might be willing to consult. Can you write me at info@angiomaalliance.org so that I can get your email address. Also, do you have copies of her MRI films?

Jenny: i'll write you when i get a copy of her scans.

Connie: That would be great.