GENETIC TESTING and results

[Tracey]

Hi All

Just an update on my own family situation and maybe some useful info for other visitors to this site.

I have had HHT all my life (now 38) and had various operations and proceedures.  I have three children (15, 11 and 8 ). 

For some time, my eldest has been showing possible signs of HHT, so I finally asked the doc's to look into it. 

We first saw a genitics consultant last year when they took blook from me so that they could identify the gene and the mutation of HHT.  I have got the ACVRL1 faulty gene.  Then back in Feburary this year they took blood from each of my children.  We got the results today!

Both of my younger children (my two girls) are clear!  Yipee!
My son however, is the unfortunate one, he also has been diagnosed with HHT 

Although this was tough news for us to take as a family, it is really useful to know at an earlier stage in life that firstly, he has got this, and secondly how he can manage it as he grows up.

If there is anyone out there ... which I am sure there is ... like me, with young children, simply wondering ... go and see your GP and get them to refer you to a Genetics Department.  It is a lengthy and time consuming process, and takes a few months of waiting ... but at least you can find out some answers!

It will also give these youngsters the medical back up and screening that they need as they grow up.

Tracey 

[JAMES D]

Hi Tracey,

It must have been hard hearing that one of your children has got HHT.
My 2 children are aged 3 and 1 and I would really like to know if they have inherited HHT. I had genetic testing done over a year ago but they were unable to identify the faulty gene - so finding out if my kids are HHT free or not is just not an option. Just got to wait and see if they develop any symptoms.

James

[Tracey]

Hi James,

Yes, even though I suspected it, it still came as a huge blow to hear those words today about my son.

On the other hand, I really feel for you.  I think the not knowing is far worse.  I take it that they were not able to identify the gene in you?

When we went to the clinic, they had to identify the gene in me so that they know exactly what to look for in my children.

I am so sorry that you do not have any answers at all.

Tracey 

[dianelou]

Hi,

As stated in previous threads my husband has hht (ACVRL1 faulty gene identified) and we have a 19mth old daughter.

We have a further appointment with a geneticist on Monday so are going to go armed with as much info as possible as we are adamant we want her tested despite the lack of support from health professionals.

Tracey, did  the geneticist give you any comprehensive infomation about what medical back up and screening is available for children as I'm struggling to find any infoamtion on this. 

Many thanks in advance