Tuesday, 5 April 2016

A day out and genetic testing...

On Friday we had a day out at Newcastle. The main reason for us going was to see a genetics specialist....When we had our last appointment to get the girls hearts checked our heart doctor had put us forward for genetic testing....Friday was the big day....We got the bus halfway there and caught the Metro into Newcastle station which was close to where we needed to be....


I didn't really know what to expect.....I imagined swabs to be taken and maybe a blood test. I didn't Google anything because whenever I do I only seen to find the worst....

We went through our family history, medical conditions, how and when our heart defects were discovered and lots of other things....What I didn't expect was the genetics man to measure our heads, take photos of our hands and feet and have a good look at our skin....Swabs from our mouths were taken but no blood. Phew!

It was all painless and he explained that from my parents to me a gene could have became faulty and there was probably 50/50 chance it would be passed to my girls....It was probably just bad luck for them both to have a heart defect, he thinks.....

He gave us two options....We can go for further testing now or leave it until the girls are older...I am not planning to have any more children so there is no rush to find things out. If we had the extra tests now it will be something hanging over us. Somethings are just better not knowing until we have to deal with them....He is sending his findings and swabs off to his team to see what they come up with and will let us know by letter....

When the girls come to having children the technology and research will have probably improved in the field of genetics so it will be up to them to decide to have the tests....Having the tests won't change anything as we're stuck with our genes but it will give the girls information and options.

There is no pressure on the girls to even have the tests....Whatever will be, will be....In the future the girls will be monitored closely if and when they become pregnant.....There will be extra detailed scans and they will be under the care of the cardiac team at the hospital we go to for our hearts and then their children's children will be monitored closely too....

So that's it for now....No more tests! Even though we didn't really find anything out I feel like a weight has been lifted....

After the genetics appointment we decided to make the most of the fact we were in Newcastle and have a look around the shops....I took Stu into the Cath Kidston store and he was so worried I was going to buy everything....hehehe He hated every second. Everything was just too pretty and girly for him. lol We had lunch at McDonalds and I bought a few things from Lush....


So all in all it was a great day.....The genetics testing wasn't as bad as I thought and we had a lot of treats from our shopping trip....

14 comments :

  1. It sounds like a good day out in all! I'm glad the genetic testing wasn't so bad. I was surprised that no blood was involved when we went for ours. Lots of measuring though. My girl has further testing to go because the geneticist doesn't think she quite fits with her original diagnosis, so we may have some bad news to come, but as you said, it all means the proper care can be given in the future. xx

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    1. Thank you!
      Oh yes, there was a lot of measuring.
      Good luck with the further testing. x

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  2. I love cath kidson too , Sophia has one of the backpacks for nursery and I sent my other half to get it ( he is a manger at greggs in town) and he came home with a lunch bag thinking it was a backpack! It didn't even have straps for her arms lol. It sounds like you had a nice day in town after the appointment. I think your totally doing the right thing leaving further testing upto the girls to decide when they are older xx

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    1. hahaha at your hubby! I think my fella would be the same.
      Thank you!

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  3. It is really interesting to see how you feel. I have a genetic spelling mistake and I am thankful everyday for finding out as it meant that my cancer was caught early. The boys can be tested, but not until they are 18. My hope is similar to yours and that they will be able to fix our dodgy DNA one day!

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    1. Oh wow! You are very lucky.
      One day. I hope everything is fixable.
      Thank you!

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  4. It can't have been an easy decision to make! Happy to hear that all is well with your girls for now x

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    1. Thank you! We have ummed and ahhed over it since we found out about the genetic testing. It really wasn't easy.

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  5. I was only thinking about you earlier and wondering how you'd got on. Sounds like it was all painless and I think you're so right to not push it now as as you say, what can you really do about it? Glad you made the most of your time there, too ;-) x

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    1. There is nothing we can do so there is no point pushing it further until it needs to be. Thank you!

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  6. Our family also has 'issues' that are currently being tested to see how it affects the little ones. It's such a worry when you have children isn't it, we can't help but feel responsible if we don't get the answers to the tests that we want. Wishing you all the best for the right results in time xx

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    1. Good luck with the testing.
      Thank you!

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  7. Glad to hear that the genetics testing wasn't too bad - I thought blood tests might be involved too so it was interesting to read about what was actually involved. Sounds like a good decision not to go for more detailed testing now and let the girls choose whether they wish to do this later on - as you say, they would be monitored much more closely anyway if they wanted to have children and who knows what medical advances may be made in the meantime. Hope the results will be reassuring when you do get them back x

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