Thursday, 5 July 2012

Lachlan's outing to Genetic health

Lachlan and I had a visit to Genetic Health today. Lachlan has a mosaic trisomy diagnosis from blood taken when he was a few days old.There was only a small amount of blood cells that did not have trisomy 18 around 5-6 %. A mosaic diagnosis means that in different cell lines different amounts of trisomy cells will be present for example the digestive tract could have no trisomy cells, skin could have 50% and blood 95% but because we cannot test all the organ systems we never know for sure how a mosaic trisomy child will be affected.
 At todays visit I was requesting another blood test to see if Lachlan's percentage had changed however I was told there is no point doing this as he will certainly have less trisomy cells in his blood now and with every year there will be less. That is the theory anyway. I felt a bit dismissed but I do understand the theory.
I felt that the doctor had a good grasp on the genetic theory of trisomy children but had no real experience with living children. The same thing I am finding with most of Lachlan's doctors. So like he said we dont know what issues will come up for Lachlan and it is just a matter of finding the best doctors willing to care for him. Luckily Lachlan has a great Peadriatrician. The genetic doctor said to leave the medical side of  Lachlan's care to his Peadriatrician and just enjoy being his mum. Easier said than done and probably not going to happen that mum suddenly takes a back seat but very glad we have the care for Lachlan that we are getting.
 Not going back to genetic health again- unless it is to show Lachlan off.


  1. Love that you started a blog, Rachel! Or am I a little bit jealous... Hmmm. I'm gonna love reading about my fave Aussie T18 boy! Well done xxx

  2. Replies
    1. Thanks Rowdycarz I'm sure princess Vivi will let you know if she feels blogging would be something she would like to parcipate in. :0)