Genetic Counselling and Lanis hospital appt today.

I have had quite a day today and a sleepless night so today I am going to do a very quick blog. 

This week Lee and I have been offered Genetic Counselling, this will be a quick subject because I don’t know much about it. As far as I know they do lots of tests and talk to you about your family history and then decide if Lani having Downs was a one off genetic fluke or if Lee or I carry the gene that will have caused it. They also will give you a likely hood of having another child with DS.

So this is our thinking..... Why have if it does not matter to us, before Lani was born we turned the tests down because as far as we were concerned we were blessed to have a baby and no matter if there was any issues or not we would love the child with all of our hearts.  So this takes me to this testing we are now offered... what is the point, if Lee and I choose to have another child it won’t matter if our child has issues or not so we would not test, and if one of us does carry a gene that caused Lani to have DS why would we want to know?? Its happened – deal with it – don’t look to put blame on one person its both of us that deal with it together, were a strong  unit and blame won’t help us.  

Blog diary

25th October 2012

Note from Last night. Lani didn’t sleep!! Up 4 times.....

Morning

I collected Lee form work and we headed to hospital, as soon as we arrived a student nurse asked us to go into a private room for her to take Lanis obs, she asked us about the episodes Lani has been experiencing and I explained it all and that we have to be extra vigilant because of the DS. We then waited for our Dr to come in and see us, our Dr is an amazing lady she has been with us from day one and knows Lani very well. Lani was very ill 3 months ago and was rushed into hospital, our Dr came in to assess her as she felt she was the best person to help us, like I say she is amazing. So in she comes delighted to see her but concerned about what she had been told, she explained that today we would discuss the fitting issue and also her one year check up.  Her one year check up was easy the only thing we need to do is have her thyroid checked again as it was a little up last time so we will be going back to hospital in late November time to have the tests again. As for Lani having fits she watched the films and said it could be 1 of 2 things .... firstly yes it could be her having infant spasms or it may be a problem with her reflux again (I say again because she had problems before where she went blue twice and was taken into hospital overnight for obs – that turned out to be reflux but the initial concern was of course her heart). Because our Dr cant make a sound decision based on our footage she is going to run an EEG test on Lani in the next few weeks to check it out.

So do I feel happy??? Yes and no... yes because I trust in our Dr and know if she was worried Lani would have been kept in, no because its left open and we just don’t know still but a huge part of me thinks hopes that it is the reflux and again this will all be associated to her hypertonia (low muscle tone).

Afternoon

Spent with my mate, on her sofa and drinking tea, chatting and putting the world to rights. Lovely. 

Evening

Bed.