Really need some advice please re: genetic testing

[dianelou]

Hi all,

Had an awful appointment with a geneticist today re: genetic testing for my 19mth old daughter.  My hubbie has the gene identified and we are adamant we want to know if our daughter has it but the geneticist is soooooo against it saying they do not do genetic testing until at least 10 years in asymptomatic children.  We kicked up such a fuss that our request is now going to the medical board on Thurs for a final decision. Please can anyone give me any case studies where you have had your infant/ younger child tested and the circumstances surrounding it as I am on such a downer.  We are in Warwickshire, do you think this is a funding issue??? 

Many thanks in advance

[aimee]

I can't understand why they would be hesitant to do the test on your daughter.  We had our latest daughter checked at age 9 months...luckily she doesn't have the gene mutation.  I think I mentioned previously that our other three kids do have HHT.  They were tested when they were 1, 3, and 5.  How can they possibly think delaying testing until age 10 makes sense?  What changes at age 10? 

The main thing you have to worry about in a child that young is a brain AVM.  10% of HHT patients have a brain (cerebral) AVM.  There have been reports of infants/kids suffering ruptured cerebral AVMs with obviously dire consequences.   Does your geneticist really want to take that chance?  If they refuse to do the genetic test, why don't you just get a brain MRI to rule out a brain AVM.  I don't know how easy it is to get a brain MRI where you are.  In the U.S. they have MRI's everywhere. 

Your daughter should have an oxygen saturation test every year This can be done easily in any doctor's office.  They just clip a device on her finger for a few seconds to measure the oxygen.  If it is low, then she should have a bubble echo to check for a lung AVM.  A bubble echo is recommended at age 10 in all HHT patients...earlier if they have a  low oxygen saturation.

Good luck,
Aimee

[dianelou]

Thanks for your reply.

Hope you don't mind me asking, but are you in the UK, were all your children asymptomatic at the time of testing and how does hht affect you?

The geneticist said most symptoms develop around 10 yrs and cases in younger children are very rare.  Also said that MRI not needed as cavms are not treatable, which I said was not the case.

This doesn't make sense to me either but I don't know how to move forward, she said that if the board decides it is not in our daughters best interests threre is nothing we can do???

[aimee]

My oldest daughter (6) gets nosebleeds, but the other two have had no symptoms.

My husband's sister died of a ruptured cerebral AVM in 2002.  I did my own research on AVM and concluded that the family must have HHT (lots of nosebleeds).  My husband had the genetic test and it confirmed an ALK-1 mutation.  His dad, two sisters and one brother all got tested and all have it.  Another sister has it clinically and one brother hasn't been tested yet. 

We live in the United States and I think that makes everything easier.  There is a huge fear of being sued among doctors so they are usually willing to do lots of tests on patients to make sure nothing gets missed.  I don't know if that is a good thing or not, but it drives a lot of medical decisions here.   

I also disagree that cerebral AVMs are not treatable.  Even if it was in a location that couldn't be treated, I would want to know if my daughter had one.  I would alert the school/daycare, have her wear a medical bracelet, etc.

Aimee

[philbarto]

I have had two CAVMs treated by stereotactic radio surgery the AVMs are pinpointed and 260 rays of gamma are used to obliterate them I will find out in 15 months if it has been sucessessful
regards   Phil UK

[dianelou]

My oldest daughter (6) gets nosebleeds, but the other two have had no symptoms.

My husband's sister died of a ruptured cerebral AVM in 2002.  I did my own research on AVM and concluded that the family must have HHT (lots of nosebleeds).  My husband had the genetic test and it confirmed an ALK-1 mutation.  His dad, two sisters and one brother all got tested and all have it.  Another sister has it clinically and one brother hasn't been tested yet. 

We live in the United States and I think that makes everything easier.  There is a huge fear of being sued among doctors so they are usually willing to do lots of tests on patients to make sure nothing gets missed.  I don't know if that is a good thing or not, but it drives a lot of medical decisions here.   

I also disagree that cerebral AVMs are not treatable.  Even if it was in a location that couldn't be treated, I would want to know if my daughter had one.  I would alert the school/daycare, have her wear a medical bracelet, etc.

Aimee

Hi Aimee,

So sorry to hear about your husband's sister.
The approach to testing etc does seem to vary greatly between the UK and US.  It doesn't make it easy here having to fight for screening etc, as like you I agree that it's better to know.  We will keep on fighting.
Take care
Diane

[dianelou]

I have had two CAVMs treated by stereotactic radio surgery the AVMs are pinpointed and 260 rays of gamma are used to obliterate them I will find out in 15 months if it has been sucessessful
regards   Phil UK

Hi Phil,

Thanks for your reply, I do hope the procedure has been successful for you.  Were the cavms a result of pavms, as from my reading it states that you are born with cavms?  How have you found the uk screening/ monitoring process?