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Author Topic: New baby = HHT questions  (Read 3335 times)

Offline dianelou

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New baby = HHT questions
« on: March 25, 2008, 10:34:23 PM »
Hi,

Have been looking for some advice recently as getting nowhere with GP and stumbled accross this site.  My husband is 33 years of age and has HHT as does his sister, mother and nan.  We had a beautiful daughter in Sept last year and i am anxious to know if she too has it.  Is there anything i can do, any advice greatly received.
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Offline JAMES D

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Re: New baby = HHT questions
« Reply #1 on: March 25, 2008, 11:08:11 PM »
Hi,

Im in the same position as yourself. I have a 2 year old son and a 7 month old daughter and we are also anxious to find out if they have HHT.
We have recently been told that here in the UK ( Dr Claire Shovlin, Hammersmith HHT Centre ) that they do not screen the child until about 12 years of age. If they develop any symptoms earlier than this age - then screening is done earlier. Hope this information helps!


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Offline dianelou

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Re: New baby = HHT questions
« Reply #2 on: March 26, 2008, 05:26:30 PM »
Hi James,

Thanks for your reply.  I am in the UK also.  It seems that it is just a possible 12 year waiting game then?.....not much help to us as parents.  Do you think it is worth forcing the issue with our GP or given your experience am I likely to be turned away until symptoms appear.  Also, do you know what screening to expect at 12 years.  Will you be contacted automatically or have to chase this?  Sorry for all the questions and thanks again.
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Offline philbarto

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Re: New baby = HHT questions
« Reply #3 on: March 26, 2008, 07:47:54 PM »
If you speak with your gp and ask for your husband to be reffered to the genetics dept of your local hospital ,but in many cases it is the local childrens hospital which have the genetics dept,and get screened they should be able to identify the type of hht gene as there are 3 and it should start a chain reaction of screening down the family tree. that is all I did and they immediately screened my son and now his son and the rest of hisd family.
best of luck   Phil
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Offline dianelou

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Re: New baby = HHT questions
« Reply #4 on: March 27, 2008, 05:28:41 PM »
Hi Phil, 

Thanks for taking the time to reply. Given your information I shall definitely be pursuing this further with my GP.  I wonder why James was told otherwise then and not offered screening until 12years???  Hope you and your family are well.
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Offline JAMES D

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Re: New baby = HHT questions
« Reply #5 on: March 30, 2008, 09:49:58 PM »
Hi Diane,

Im the first person in my family to be diagnosed with HHT - and I had genetic testing in November last year. I was told that this was for research purposes only as I had polyps removed - possibly linking my HHT to Juvenile Polyposis ( HHT3 ).
I was referred by my GP to the HHT Centre at the Hammersmith Hospital where I met with Dr Shovlin. I was told that genetic testing isn't routinely offered and is done solely for research only - although if this is done you get the results eventually. Apparently someone got theirs back after 10 years! Madness.
If the gene is identified - then I think its just a blood test to identify it in your child.
If you are refused genetic testing - or its done - but the gene can't be found, then they just go on symptoms and screening at 12.
Its a very worrying time for us parents - you feel quite helpless to say the least.
Does your husband have a consultant at an HHT centre?

Regards, James & Julie
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Offline aimee

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Re: New baby = HHT questions
« Reply #6 on: April 18, 2008, 04:42:57 PM »
We have three kids and had them all get the genetic test for HHT.  All three of them have it!  They have all had brain MRI's to rule out cerebral AVM's and they were all clear.  I certainly would not wait until age 12 to get your kids screened.  There have been plenty of reports of children and even infants suffering complications from HHT.  The kids should have oxygen saturations checked yearly (sitting and lying down) to screen for pulmonary AVMs and then at about age 10 they should have a bubble echocardiogram for a more definitive test for pulmonary AVM.  If the kids start getting shortness of breath with exercise, they should be screened earlier.  Good luck!

Aimee
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Offline JAMES D

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Re: New baby = HHT questions
« Reply #7 on: April 21, 2008, 09:01:23 PM »
We feel completely powerless when it comes down to getting our kids screened. Its like we just have to go along with what we've been told.
The consultant at the HHT centre told us that here in the UK they don't screen until age 12 - I don't think we can take our case any higher.
No doctor I've seen ( Lost count of how many ) recognises or understands HHT and they seem to pass it off.
We will certainly carry on our pursuit to get our children the screening they need.
Is the oxygen saturation test done at an HHT Centre? or is it easily done at local hospitals?

James & Julie
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Offline philbarto

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Re: New baby = HHT questions
« Reply #8 on: April 22, 2008, 05:41:09 PM »
The oxygen saturation test could be done by the nurse at your local surgery it only involves clipping the test piece on one finger and take a reading lying down and then standing up 2 minutes is all it takes. i dont know your location but here in Sheffield the Northern General Hospital chest clinic have a Dr Hill who is actively interested in HHT and as I thought that you can choose a hospital of your choice and it is not too far away then it may be an Avenue you could go down. Also you could ask your GP as I did here to be refered to the genetics clinic usually at your local Childrens Hospital
best of luck  Phil
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Offline JAMES D

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Re: New baby = HHT questions
« Reply #9 on: April 22, 2008, 09:08:07 PM »
Hi Phil,
thankyou for your reply. Im pleased to hear that this test can be one locally. We live in sussex, but Im hopeful that we can find someone, perhaps at our local hospital who has an interest in HHT, of whom might be able to help us.
I am still awaiting my own DNA results back - so not sure if they wil test my children yet? Definately a question we will ask.
Regards, James & Julie
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Offline dianelou

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Re: New baby = HHT questions
« Reply #10 on: May 15, 2008, 06:14:12 PM »
Hi all,

Apoligies for not replying sooner, our daughter has been in hospital with suspected menengitis so has been a difficult time.  She is fine now and we have got the paediatrician to refer her to a geneticist.  We have an appointment with a genetics counsellor in warwick in june which will lead to a consultants appointment.  Any advice about what to ask/ expect?  Hope you and your families are all well.  Diane.
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Offline dianelou

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Re: New baby = HHT questions
« Reply #11 on: November 02, 2008, 07:40:48 PM »
Hi all,

We have an appointment with a genticist tomorrow.  Just wondering if James D has got any further with screening etc.

Hope you are all well.

Regards
Diane
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Offline Tracey

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Re: New baby = HHT questions
« Reply #12 on: April 16, 2009, 04:30:55 PM »
hi everyone,

I too have three children and all of them have now been tested for HHT.  My eldest has it.

Like previous people in this thread, I would definately advise that you get your children tested as early as possible.  All your GP has to do is refer you to a genitics consultant and then take it from there.

Tracey  ;)
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Tracey :-)

Offline Luke

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Re: New baby = HHT questions
« Reply #13 on: April 27, 2009, 09:18:07 PM »
Hi everyone.

I have recently found out that i have HHT. It was all thanks to my mum (Tracey) that we eventually got the Genetics test done. My two younger sisters are clear but unfortunately the bad seed was passed on to me. Im a 15 year old boy and im frightened. I have a dream. My dream is to become a famous and successful chef by doing two years at south Devon College in the Catering department, then moving to France for two years to study the French cuisine at a college there and then move back to the UK to open my first restaurant after a few years of being a chef in a restaurant somewhere. My problem is, this flaming HHT is going to restrict the time i have to do my cooking in the industrial kitchens and eventually im not going to be able to stand the heat in my kitchen at home. what rotten luck!  >:(

Luke
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Offline dianelou

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Re: New baby = HHT questions
« Reply #14 on: April 28, 2009, 11:25:44 AM »
Quote from: Luke on April 27, 2009, 09:18:07 PM
Hi everyone.

I have recently found out that i have HHT. It was all thanks to my mum (Tracey) that we eventually got the Genetics test done. My two younger sisters are clear but unfortunately the bad seed was passed on to me. I'm a 15 year old boy and im frightened. I have a dream. My dream is to become a famous and successful chef by doing two years at south Devon College in the Catering department, then moving to France for two years to study the French cuisine at a college there and then move back to the UK to open my first restaurant after a few years of being a chef in a restaurant somewhere. My problem is, this flaming HHT is going to restrict the time i have to do my cooking in the industrial kitchens and eventually im not going to be able to stand the heat in my kitchen at home. what rotten luck!  >:(

Luke

Luke,

You made me feel really sad reading your post.  Please don't be frightened and don't ever give up on your dreams.  I'm seeing you holding the first hht.me.uk meet up in your restaurant!!! x
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