Hi all,

We have recently been for genetics testing and had the gene ACVRL1 identified.  We want to know if our 17 mth old daughter has HHT but the geneticise is very against it basically implying it's wrong to test a young child as there is nothing thst can be done anyway.  What are your thoughts/ experiences of this please.

Thanks in advance

Hi, well as a Mum myself I would say I would go for the testing.
My daughter whose father has HHT, has suffered nose bleeds from
a young age, she is now 21. I would prefer to have known about
HHT many years ago and feel its better to be prepared for any
problems that might arise, rather than not know. If my daughter
has any medical problems that we are not sure about, I always
advise medical staff about the family history of HHT. In that
way at least I know they will look into things a bit more
thoroughly.  Out of interest my two sons have never had
any nose-bleeds.   I think you have to decide what is right
as far as your own family, I am sure you will do what you
think is best.

Hi, I think its best to go with your gut feeling on this.  If genetic testing is available to you and you and your husband would like to find out what to expect I do not think it is unreasonable to ask for it.  If the geneticist is worth his/her salt, they would encourage it and not say "nothing can be done anyway".  Thats very unfair and naive to say that to you.  To be encumbered with the knowledge of the facts is only an advantage in my opinion.  I have an 8 yr old son and I suspect he has HHT because of a couple of red spots but I would ideally like to know if my child has HHT for certain.  As most may know, HHT can manifest itself in many different ways - nose bleeds being the most common but thats not to say the condition does not exist.  I would also like our son to be tested as at least I would know what to possibly expect.  Either way, us mothers will worry.....I feel its best to go with your instincts on this.  Let me know how you go!  Best of luck, Katherine

Hi Kathy,

Thanks for your reply, we have a further appointment with the geneticist booked for April in which we will be insisting on testing. Will keep you posted.

Hi David,

Couldn't agree more!  The geneticist implied that as the condition doesn't usually manifest until after puberty it is best to wait until at least then to test and also implied that it wasn't ethical to test a toddler.  Obviously this is completely absurd and incorrect.  I know a blood test will not be nice for my daughter but if it turns out that she hasn't got it then this will be the end of it.  And if she has, then at least we are informed and can pursue regular monitoring/ screening etc.  Like I said we now have a further appointment booked so hopefully we can move forwards.  Are you aware of what testing is routinely done in infants here, as the information I have sourced varies between countries?  Many thanks

As a thought... If I had known that I had HHT when I was younger, I would have planned things a little differently - for example there were some long term business commitments that I made that had a negative financial impact on my situation which was made worse because of HHT & I just couldn't honour the work that I had agreed to do...

If I had known about HHT back then, I wouldn't have made those commitments & would be much better off now!!!!

My basic problem was that I found out about HHT & went to an ENT and they said it's rare & I could not possibly have it and went into business because of that (bad) advice!

In a similar way I could plan now with the kids what their career / Uni options will be better if I know that have HHT or not!

I'm based in Australia - i know there was a "HHT" specialist noted in a teaching hospital in Melbourne, but I'm based in Western Sydney... I don't know who would be the appropriate people here to do the genetic tests - let alone have the experience to identify the genes...

Interesting question...

Why did the geneticist not want to persue - cost issue?  My current ENT says specialists hate HHT with a vengeance as it's messy and they can't cure it and you keep on coming back............ (great attitude??)

At present we're just relying on the physical chaacteristics!

>>Out of interest, how did having HHT affect your career, do you suffer badly? 
I'm a qualified accountant by profession & had set up my own practice & went into an office & fixed cost structure. I started really severe nose bleeds. Some of them were funny - eg, having a client meeting and a great stream of blood shot across the table between me & the client and surprised us all. I laugh when I see it now... But that sort of thing is not real professional...

I had problems when I was at a client - went to use their bathroom & started bleeding on the way. One of their bosses came in & I had blood splashed everywhere. Just couldnt stop it.

Also had a few situations when out at clients & would start bleeding. One of them I was having a "waterfall" type bleed - never seem so much blood in my life! and it wouldn't stop. I freaked out their staff & became distressed as we;d called an ambulance & it didn't arrive. Everyone was panicking as the blood loss was so great.

Now I found that with such regular bleeds & blood loss it affects my physical ability to work. I'm understanding now it's to do with the blood volume & very low iron levels in the blood. Your body needs a certain level to function - to transfer oxygen & stuff around the body. I get feint, sick and cant think - let alone concentrate on giving advise or getting things done to a deadline.

I only have a few small clients left now which is not financially viable. Have just retained a few small ones who understand the condition.

So for me it has impacted my work greatly!

That's why I sort of would like to know if my kids have it too - there is nothing so disappointing to start off on a career & find you can't complete your dream (not that my dream was to be an accountant = but that's another story!!!!!)

Hi Raymond,

Maybe you could start by approaching your family doctor and asking for a referral to a geneticist?

I'm sorry to hear that HHT has had such an adverse affect on your career.  Are you taking anything for your anaemia?

On a more positive note though, there is nothing to say that your children won't be able to have a fulfilling career.  My husband also suffers badly with nose bleeds, but has been fortunate enough to find an empathetic employer and now his collegues all know about HHT it is not an issue. 

Good luck.