Other facts and things

Well I didn't make my goal of writing everyday.  Last night we were celebrating my brother Patrick's birthday, so we didn't get home until late.  Well worth it, so I shall see if I can crank out 2 today and then I will take the weekend off:)

So I realized that one of the things I haven't specifically talked about with PKS is how they diagnose it.  In Patrick's case, his showed up on the blood test that looked at his chromosomes.  But not all cases can be diagnosed that way.  Some of the kids needed a skin biopsy to confirm a diagnosis.  The reason why the skin biopsy is used is because the cells in your blood can quickly regenerate, so after a few days the mosaic cells will leave the bloodstream, which can give a false negative.  The reason why our geneticist ordered the bloodwork first, was she was fairly confident it would show up in Patrick's blood, but if it didn't, the skin biopsy was the next step.  So it's highly encouraged to get a skin biopsy if PKS is suspected.  Even if the child has had the bloodwork!  

There are only around 200 confirmed cases in the world, but they believe it is very under diagnosed.  This was something our geneticist told us during our first visit.  She had experienced cases diagnosed later in life.  Early intervention for these kids is so crucial for life skills and health management. It is so important for parents to advocate for their children if they feel something is wrong.  Their is nothing stronger then a mothers instinct.  That goes for things other than PKS too :).   Keep fighting until you know!!

So I thought I would just post a couple pictures of Patrick's progress over the past 2 years.  Then I have to get back to these 2 crazy boys.  This is the point of the day when they are both happy at the same time:)  Oh and don't think we have forgotten...Tim will be writing soon.  Poor fella has been working a lot.

And the last picture is not a milestone either...just his first time being a pirate.  He really enjoyed it!  I can't write a caption because my iPad is not letting me scroll down all of a sudden.  Technology=1, Me=0.

Right around 9mo

Day he was diagnosed. March 31, 2011

Sitting up.  April 2011 10 months

First time holding his bottle.  In therapy May 2011 11 months 

First time holding a sippy cup with handles.  July 2011. 13 months