Tuesday's news

I learned one very important lesson today--when you go to get test results from the doctor, and you have a group of 8 doctors waiting to speak with you, it isn't good news.

We received confirmation today of what we have long suspected and feared.  Kylie has an unbalanced chromosomal translocation.  Greek?  Now in English:  some of her chromosomes are swapped around, resulting in a little extra chromosome matter.  Let me try and make this understandable.  We all have 46 chromosomes--23 from mom, 23 from dad.  Kylie has a little bit extra of one chromosome.  It appears that she has the same thing my sister Jennifer does, but we are not yet sure if it is exactly the same, or just very similar.  It will take several weeks to find out.  I (David) am having blood drawn to do my full genetic tests done.  We know that I have a balanced translocation (I have 46 chromosomes as I should, but they are swapped around), and they need current analysis to compare to Kylie's results.  Once we understand exactly what the problem is (in a few weeks), I will post a detailed explanation.

The geneticist said that one out of every 600 people has a translocation, which was a surprisingly high number to hear.  I guess most don't cause problems. 

 To put this in perspective, Jennifer is severely handicapped, both mentally and physically.  She is in a wheelchair and completely dependent on my parents, with whom she lives.  She has limited mental capacity, equal to that of a small toddler.  That being said, even if Kylie has the exact same translocation as Jennifer, her symptoms and problems may be different, so we don't really know what to expect.  They have some physical characteristics that are very similar, and some that are not.  Jennifer also had some issues at birth that Kylie did not, so it is hard to say exactly which problems are genetic and which are from other causes.

Tomorrow, kidney specialists will begin testing Kylie's right kidney to see exactly what is going on with it.  They will put in a dye and see how it is processed.  This will help determine if the organ is functioning.   

They are still monitoring her heart, which is ok for now.  There is a problem with her aorta and the valve where it leaves the heart that may require surgery.  Apparently her aorta is constricted, so it may not allow enough blood to flow through.  As with everything else, it will take time to know for sure.  She’s not having any bad side effects yet, though. 

Sorry if this is totally scattered, I'm trying to explain things that are confusing to me.  I've got to start writing earlier in the evening...