Wednesday, July 25, 2007

Genetic Disorders

Would anyone like one? I have a few that may possible running through my family right now...

Is this a doctors answer to EVERYTHING?!?!?!!?

My son has a rare genetic disorder - we knew this while I was pregnant with him... It's called Mosaic Trisomy 16.... it's enough to give a parent nightmares for a lifetime... seriously!! To be there, 20 weeks pregnant, that glorious half way point...to be told "your child will die" ...

:::shakes head and pops eyes out of head::: Excuse me... my eyes fell out...

plops them back in....

So ... I hemorrhage after Natahn is born and SUDDENLY I *may* have a genetic disorder called Noonan's Syndrome ...

Calahan has had bleeding issues from birth and I just now *TODAY* after fighting for YEARS to find out what was wrong with him, after having his Leukemia scare at 2 1/2 .... I just wanted to know WHAT was going on so I could help him... so... today I find out that he's HAD a diagnosis for who knows how long.... called.... idiopathic thrombocytopenia purpura (ITP for short).... which (researching it a little) fits him well, heck it fits me too... but they also want to check him for "Fragile X Syndrome" ...

And then there is poor Nathan who shows so many of the characteristics that we saw with Noah and some we expected to see with Noah but didn't... and yet, he comes back genetically perfect - AWESOME... what do they say today? "When he gets bigger we want to run another test on him to check the arms of the choromosomes to make sure THEY are alright" ... fine fine fine... I mean if there IS something wrong with him, I want to know, I want him to know...

So they are going to run this Noonan's check on me and it will take UP TO 5 weeks to come back ... once that comes back, depending on how it comes back... then they will start the testing on Calahan (maybe adding a Noonan's check to him also if I do have it) ...

My head is spinning - I'm frustrated....... I want to be reading Harry Potter...

But I still have to write my ex a letter....... OYE!!!

No comments:

Post a Comment

Comment Love is better than....... Chocolate!