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AVM Survivors Network

Genetic testing an ethical dilemma?

#1
The thought has crossed my mind whether it is possible that my children can have an avm and if I should do a genetic test for HHT?

Having said that, even if it has been tough having seizures since age 19 without any diagnosis, I know that I am glad today that my avm was not found back then, and that I have been able to live a "normal" life without worrying that I would burst.
Because it turns out that my avm is inoperable.

Of course if there is a possibility to remove it, then obviously the sooner the better and as parents we will do whatever we can to protect and heal our children!
Unfortunately we can not know this in advance.

I have talked about this to my sisters and to my eldest daughter, if they would like to know, if it turns out that I have the gen for HHT.

They all said that they will not know!

So, I feel it is an ethical dilemma wether I should do this test or not. Should I tell them about the result regardless, keep quiet, or not do the test at all?
And how would it be living with the knowledge and not be able to pass it on to the the people I love?

I also have to respect that each person has a right to choose what feels right for them, and it is therefore not only up to me to take a test and tell my whole family without the acceptance that they really want to know.

These are all important reflections to bear in mind when we discuss the topic around genetic testing.

#2

Wow! Thank you for posting this. I actually just commented in the “Are AVM’s Hereditary” thread on issues you touched on. Perhaps it will help you to make your decision if you read the entire thread.

As an AVM survivor with 5 HHT positive kids I can tell you that I wish I had known. There are in vitro procedures that can ensure that your child is not born with the mutated gene. After testing positive a genetic counselor will discuss all of those options with you.

Watching my 6 year old daughter suffer all these months has been the most devastating experience in my life. Knowing I am the cause of it is even worse. My 19 year old breaking up with her boyfriend so she didn’t have to tell him she wouldn’t be able to have children normally breaks my heart. Every day a little piece of me dies watching my kids suffer for being HHT positive. And I know this is only the beginning. IMHO It is a selfish act to deny anyone knowledge, especially of medical conditions that are potentially life threatening. Now that we know we are HHT positive we can do things to make it better. The kids are getting medical treatment. I know if my daughter is having trouble breathing that it is her AVM, not something minor. They may say now that they don’t want to know, but I’m sure that if they were armed with more knowledge about the condition they would change their minds.

#3

Weird, I was just thinking about this very issue and discussing it with my husband. For me, I think I would want to know if I am HHT positive. I would for sure have both of my daughters tested at that point. Not knowing I had my AVM nearly cost me my life. If I had known about it before it bled I could have had it removed relatively easily, according to my surgeon. The bleed is why I am will have permanent brain damage and the many deficits that I have. If I could save my children the pain that I’ve been through, it would be worth everything. Of course, there are no guarantees that even if they were to actually have an AVM that it could be easily treated, but at least we would have a chance of knowing. I’m with Christine, knowledge it power. What you do with the knowledge of course is a personal decision, but I sure wish I would have had it.

#4

Cristine: Your story is really touching and special! To find out that one of your children also has an AVM in addition to yourself, naturally makes you want to find out if that is the case with all the children.



I think most of us will agree on that!



You wrote: "My 19 year old breaking up with her boyfriend so she didn’t have to tell him she wouldn’t be able to have children…"



I am sorry that your daughter feel it this way, that is one of the reason why it is an ethical dilemma around this issue.

…and possible one of the reason why my 20 year old daughter do not want to know?



This gives rise to several ethical questions, in general (not to you Cristine!)



Would you have chosen not to have children if you had known about the HHT/AVM beforehand?

Is it selfish to think that one will have a child even though it may carry the HHT gene and possible develop AVM?



These questions illustrate how delicate and difficult it is regarding genetic testing and consequences of that action when it comes to these issues…

(…when we are not touching the issues of the benefit of knowing, so treatment can come into action, which is another subject that also has to come into consideration, obviously)…and why it is important to reflect over the issue.



This can also give rise to question about genetic testing in general, and of fetuses, a huge bioethical issue in itself, and slightly off topic.

Today it is theoretical possible to do genetic testing of fetuses (regardless if you have or do not have HHT) but it is not done because of ethical reasons. Medical researchers estimate that the malformations are created during days 45-60 of fetal development. A second theory suggests that AVMs are primitive structures that are left over from the period when fetal blood circulating systems began to develop.

This happens regardless if the fetus is positive for HHT gen, and therefore it would be possible to screen, by help of thecnology, for any type of AVM.

Since the AVM seems to occurs very early, we could possible come into a situation where we had to choose wether we wanted to terminate or carry on the pregnancy.

To take this scenario even further, it could even be an insurance issue. This is a scenario I think most of us do not want to face, a society most of us feel deterrent?

Or what?



We are all living proves that it is possible to have a fulfilling life even if we have an AVM.



This discussion is not meant to be “right and/or wrong”, but to highlight the different aspects of ethical dilemmas around this issue.

#5

Trish: I agree with you, as a parent I would like to know if there is any possibilities that my children also have AVM. Solely because I want the very best for them, to exclude or act if necessary.



You said: "Not knowing I had my AVM nearly cost me my life. If I had known about it before it bled I could have had it removed relatively easily, according to my surgeon. The bleed is why I am will have permanent brain damage and the many deficits that I have. If I could save my children the pain that I’ve been through, it would be worth everything…"



This is all good reasons to do a test!



A way to find out is by testing for HHT.

Depending on the age of your children, it might be a decision you can take on behalf of them.

At a certain age, it is up to the children to decide for themselves.

When is the child old enough to do have a say in this matter?

When it comes to other grown up family members, we have to respect their choices.



What reasons would there be that could weigh up not doing it?



Knowledge is important and often lifesaving when it comes to emergencies. Having said that, most of us do not know we have an AVM before complications occur, such as seizures and headache, or a bleed. For some of us, knowing might have prevented hemorrhage.



Not knowing can also, for some people be an important part of quality of life.



There is a lot of people living with AVM that does not and will never have any problems related to it. That is way you will not find them on this survivor site. Knowing that you have a potential ticking bomb in your head is not a nice experience for anybody. Dealing with this as an adult is completely different to how children experience it. The psychological stress is tough.



The ethical dilemma is absolutely there. One one side you could possible help your child by treatment and obliterate the AVM. On the other side, your child might get complications during the process…

Having said that, If I had known that my child had an AVM I most certainly would do whatever I could to obliterate it! But from my own experience, I also know that I would not have been paralyzed if I had done nothing, unless it had finally burst. I am glad I had 40 years on my feet and not been bound to a wheelchair at age 20.



I am not saying that testing for HHT is right or wrong, simply reflecting around the issue because I find it difficult with myself how I stand in the matter.

If I had known that there is a 100% cure, there would not have been any ethical dilemma at all.

#6

Would you have chosen not to have children if you had known about the HHT/AVM beforehand?
Is it selfish to think that one will have a child even though it may carry the HHT gene and possible develop AVM?

I have spent many insomniac nights pondering this. It is also in the forefront of my mind because my 3 eldest children have all expressed that they will not have children themselves. This is very distressing to me as I have always wanted to be a grandmother. How can I say anything about their choices? There is a big age difference between them and the little ones who have the AVM’s. My eldest has always been like a second mommy to them. She suffers watching them go through the surgeries and pain. Of course she wouldn’t want to subject her own child to that.
There was a time when my then 13 year old was refusing to get an MRI to check for AVM’s. She had already tested positive for HHT and had seen her 5 year old sister in the hospital. Eventually she relented but now I think there is a lot of guilt on their part that they don’t have them (although my 17 yo has an angioma) while the little ones do.
Someone brought up insurance which is a really good topic. If the new laws continue as proposed then we will be OK but right now we are considered uninsurable. We are on COBRA right now but it ends in May and I have no idea what we will do then. I’m hoping congress will extend COBRA and the ARRA subsidy (the economic stimulus package included a subsidy for COBRA that brought our payments from an unmanageable $1500/mo (not including copays) to $500/mo). An HHT diagnosis will definitely put you in the uninsurable category which is something serious to consider although I don’t think it should be a factor in IF you get tested, only HOW you get tested.

#7

Christine: I do not know what COBRA or ARRA means? Your insurance system in health matters is really special and quite shocking, seen from the outside world!!



Insurance and health issues is also a huge ethical subject!



I am glad that everyone stands equal regarding treatment and options in this country and that it is not based on how fat bank account or good insurance deal you have through your work etc.

We do not need to have any insurance at all to get treatment in Norway, it is all free, apart from the dentist.



I really hope for you all that the new laws you mentioned will come into action soon!



Hanne xxx

#8

My son Zach has AVM I and my mom have siezures just to start with the list of issues that my family is having so im going to ask the doctor about HHT I have 3 other children. I feel it will give answers. Its hard for some to deal with cause its scary. Some of my family never excepted that my mom had siezures as a kid which was sad and now that im an adult it took time for my mom to do the same with me cause im her baby and only child and she doesn’t want me to go through what she has had to go through. Get the test done and let them know it’s up to them to do with the info as the see fit.

#9

Sarah: I have not actually checked out if it is possible for me to just get a HHT test done in Norway, if I want to, or if there must be other factors implicated?

I know there are ethical issues around these type of tests over here.

How is it in the states, can you just choose to get the test done if you want to?



Hanne xxx

#10

Christine, may I ask a couple of questions? Can I just request to have an HHT test or does it have to be ordered by a doctor? Will my doctor just automatically order one if I request it? What are the criteria for which one may be ordered?

I ask because in doing a little research I know that nose bleeds are a symptom of HHT and my 8 year old daughter has been having nose bleeds recently, which of course, makes me freak out. Can I just walk into my doctor’s office and demand that I have an HHT test?



Christine said:
Wow! Thank you for posting this. I actually just commented in the "Are AVM's Hereditary" thread on issues you touched on. Perhaps it will help you to make your decision if you read the entire thread.
As an AVM survivor with 5 HHT positive kids I can tell you that I wish I had known. There are in vitro procedures that can ensure that your child is not born with the mutated gene. After testing positive a genetic counselor will discuss all of those options with you.
Watching my 6 year old daughter suffer all these months has been the most devastating experience in my life. Knowing I am the cause of it is even worse. My 19 year old breaking up with her boyfriend so she didn't have to tell him she wouldn't be able to have children normally breaks my heart. Every day a little piece of me dies watching my kids suffer for being HHT positive. And I know this is only the beginning. IMHO It is a selfish act to deny anyone knowledge, especially of medical conditions that are potentially life threatening. Now that we know we are HHT positive we can do things to make it better. The kids are getting medical treatment. I know if my daughter is having trouble breathing that it is her AVM, not something minor. They may say now that they don't want to know, but I'm sure that if they were armed with more knowledge about the condition they would change their minds.
#11

Hi Trish
Good to talk to you again.
Yes! Actually you will want to go to your dr and ask for a referral to a geneticist. As I said in the other thread, no doctor, even a specialist, is qualified to make an HHT or any other genetic diagnosis except a geneticist. It should be a REQUIREMENT of all AVM patients. If your dr is resistant to referrals print out some info from hht.org and show him that your daughters nosebleeds and your AVM justify testing. The stories I’m hearing on here about AVM patients who’s parents died from a bleed or have had similar lesions or bleeds, it’s amazing that no one has put 2 and 2 together. That’s why this website is so important. I have learned more from other survivors than I have from all the drs put together.
Please keep me updated. I’m praying for quick easy testing and a negative diagnosis.

#12

I understand the difficult decisions that come with a diagnosis of hht, but because symptoms can present differently from person to person, what may inoperable for you may be treated medically for another individual. I truly wish we had known about my daughter's cerebral avm before she had a resulting stroke (she was; however, the first person in our family tested for the condition). Post-stroke, her avm required gamma knife surgery because regular surgical measures put her at too much risk because of location. As a parent, we have many difficult decisions to make. Imagining a life of continued struggle for our children is so hard to imagine, but allowing them the opportunity to possibly reduce the risk of severe symptoms from hht gives them could be a valuable gift!!!! The guilt we feel is tremendous, but they will learn from your strength!