Genetic screening - any experiences

GwylimT

Before we had children I had myself screened for CF as my younger sister had it, I am a carrier so we then had our wife tested and she isn't a carrier, so our children cannot have CF but may be carriers.

We had our testing at our GP surgery, it is private though so I'm not sure how it works for those who use th NHS.

charliewocka

Hi Gwylim, I'm also private (and use a private GP) so hoping to speed things up a little. Did you have the counselling provided as well - was it very intense?

Peccary

A view from both sides. I had screening for another kind of Muscular Dystrophy which my mum and a sibling have. I also used to work in an NHS genetic screening lab, the likelihood of them getting it wrong is very small. I don't know if this info helps, it's the information sheet for DMD from where I worked
http://mangen.co.uk/lab-services/view-details.php?!!!!!29
if there is no known mutation information from an existing case they will screen the whole gene

charliewocka

Peccary wrote: »

A view from both sides. I had screening for another kind of Muscular Dystrophy which my mum and a sibling have. I also used to work in an NHS genetic screening lab, the likelihood of them getting it wrong is very small. I don't know if this info helps, it's the information sheet for DMD from where I worked
http://mangen.co.uk/lab-services/view-details.php?!!!!!29
if there is no known mutation information from an existing case they will screen the whole gene

Thanks for this - I had thought that there could be thousands of mutations possible, and screening for everything would take forever and not be possible so good to hear it's a possibility. Guess this will be discussed with the Geneticist when I get there....

lulu_92

I worked with a lady who waited until her late thirties to have a child because of these worries. The testing wasn't widely available when she was younger so she leapt at the chance when able to. Her brother suffered from muscular dystrophy and her sister's testing found her to be a carrier. Luckily her tests came back negative and now she has an 18 year old son.

VfM4meplse

charliewocka wrote: »

Unfortunately my mind is all over the place as I have also had a lump discovered in my breast and have a scan next week to investigate. The rational side of me is saying I'm sure everything is fine, but there is the panic 'worst case' playing around as well.

It never rains....

Its natural to feel anxiety in the absence of the facts. I think seeing a friend, and talking through your thoughts with them might be a helpful way of getting through the next few days. Even if you don't share your worries, just being with someone you like can be uplifting.

I hope all goes well for you next week.

charliewocka

VfM4meplse wrote: »

It never rains....

My words exactly! It's all happened at a time when my anxiety has been creeping in as well so not dealing with things particularly well. Have asked OH to just be around for a bit (we both travel with work a fair bit) and he is off all next week to do some DIY in the house (we've taken on a project!) so he is able to come to the hospital with me. Would love to take a week or two off and just have some quality me time (thinking coffee, cake, sofa and house magazines) but things so busy in all areas!

Mrs_pbradley936

My son and his partner had this because they have a child with problems which was picked up on the first scan. They saw this woman:
http://www.ucl.ac.uk/ich/research/genetics-genomic-medicine/experimental-personalised-medicine/research-groups/Prof-Lyn-Chitty

They were offered a termination but although my son wanted it his partner did not. If they have any more children and they show up as having problems then she will terminate.

As it turns out what my granddaughter has is so rare (only 34 cases of it ever recorded) they think it highly unlikely that it will happen again but there are no guarantees.

GwylimT

charliewocka wrote: »

Hi Gwylim, I'm also private (and use a private GP) so hoping to speed things up a little. Did you have the counselling provided as well - was it very intense?

It was offered as an option, we didn't take it up.

Armchair23

I think you should concentrate on your own health and wellbeing right now, nothing else matters until you know you're OK.
The process of having a child can be stressful under the best of circumstances so please take that out of the equation for your physical and mental health right now.

People have very different views and every set of circumstances is different.
We have had 3 generations of male family members die from the same condition. I.e Grandfather, father and son. I now have an adult son so the fourth generation and worry that he will be at high risk. There's no genetic diagnostics available as yet, but struggling with the "what if's" is a pain.

Personally I wouldn't be willing to have a baby that was a carrier, because they would then have the same difficult decisions to make. I know many people would find that a bit controlling but that's my decision.

I'd agree with so many of the helpful comments about counselling, it will help you and OH work out just what is most important to you both and where you're willing and able to take risks or need to compromise.

Please look after yourself first and let us know how it goes X