Number 21

First off, I must say this entry might not make much sense.  It will probably be a bunch of rambling but, I am still a bit confused and still need to educate myself further but in the meantime, I need to rant and get rid of the weight that is on my shoulders.

I have to say that when I became pregnant with Connor I assumed I would have a perfect little child (which I do) and could have never imagined that at age 14 months my child would have had more tests done on him and more x rays and scans than I think myself has had at the age of 31.

We finally received the chromosomal test results today and it turns out that Connor is missing a piece of chromosome 21.  What this means for him I am still unsure of.  The woman giving me the info over the phone is not a doctor and of course we need to see the doctor so that he can go over his results with us in detail but what she did tell me on the phone is that this missing piece is causing his developmental delays and is also causing his distinctive facial features.  My family and I of course ran to our computers and typed in chromosome 21 and I of course am now scared to death for my child because I seriously don't know what is going on with him.

Eric and I will need to go in and also get a chromosome test done.  If either him or myself are also missing this particular piece, it would be normal for Connor to also be missing it and we would be back at square one BUT, if we come back with a normal chromosome count then we definitely have our answer for Connor.  

http://en.wikipedia.org/wiki/Chromosome_21_(human)

When I went to this link I was kind of glad we are near an answer.  Connor has some of the conditions listed.  We have already ruled out down syndrome and mental retardation.  Connors delay so far is mainly physical and in down syndrome there is an extra 21 where as Connor is missing part of 21.  From what I read, 21 is the smallest of all the chromosomes and pretty much the ruler of most genetic disorders.  

If any one has any info on this particular chromosome, I will gladly take it.  We wont be seeing the doctor for about two weeks.  He only works at the hospital on Fridays and both Eric and I need to take the day off work.  My main concern for Connor right now is his skull and physical delays.  We do get Connor's CT scan this Thursday and will be sending it to the genetics doctor and will be seeing a cranial facial team.  I hope to have more answers soon.

Until then, we can only enjoy our perfect little man flourish and grow.  No matter what happens to Connor, he will always be perfect in our eyes and he is by far one of the happiest little people to come into my life.  I am blessed and more than pleased to call myself Connor's mommy.