Work-You Stink...

I work on Tuesdays and Wednesdays while Eric stays home with Connor. Normally I come home to find Connor taking his nap before his physical therapy apt.

Today I came home to Eric telling me I HAD to watch the video he took of Connor. He warned me it was long (they always are if Eric shoots them) and sure enough it was a whopping 10 minute video. Guess what mommy missed while she was at work today...CONNOR CLAPPING. WOW, what a big boy now. Finally, I get to jot down in his baby book that at almost 15 months of age my big boy clapped. Because he has limited movement on his left side (I am sort of beginning to worry about that) he claps with his right hand up and his left hand down (like a side ways clap). So cute. I cant wait for him to wake from his nap to show me his new found skill.

Wow, we really needed something like that today after such a horrible weekend.

=-)

Friends...

With everything my family has been going through lately, I can not help but feel all alone. My husband and I sometimes even feel like we don't have anyone but each other.

After our own personal freak outs (we are all entitled) we sit there and realize how much of a strong support system we both have. We both have very, very loving and concerned mothers and worried, supportive fathers. My husband is lucky to have several friends with children who are able to sympathize with him.

For me, it's the Internet. I would be lost without the friends I have made on my computer. They are like a special second family to me.

I remember when I became pregnant with Connor back in 2007 and my sister telling me I had to check out this site called WTE and buy the WTE book. I bought the book and hesitated to go on the Internet. Honestly, I was and still am to a degree very reserved and not willing to share private things like having a baby on the net. HA! My decision to join WTE in mid 2007 was probably by far one of the best things I have done. Most woman there did not know me when I was pregnant because I had chosen not really to post much. After Connor was born, I realized one thing: no matter what our differences are we have the most important thing in common, we are all MOMMIES!

These woman are my friends now. I feel as though I can say just about anything to quite a few of them. I wish I could fly to every state that I have a mommy friend in and give them a big hug and thank them from the bottom of my heart for all of their love and support while my family goes through the beginning stages of what seems like will be a VERY LONG JOURNEY.

As frustrating and so very sad everything I am going through with Connor is for me, my friends make it so much easier. Talking (or in this case writing) about our experiences helps me deal with it and makes things that much easier.

I wish I could find something like this for Eric. He needs all the support he can get as well but I think he just prefers to talk to me, his family and close personal friends. We all deal in our own way.

I forgot to mention someone. When I talk about my mom being there for me, there is one more person there as well, my sister, MICHELE. I love you Michele! I have the best family a girl could ask for.

Too much to handle...

Connor was so brave for his CT scan on Thursday. I was a very proud mommy. They went looking to see if the sutures had closed to early in his skull and to be honest with you, that is all we were told they were doing.
His ped. called us last night with the results of the scan. As suspected, the sutures have closed in a triangular shape. We are not sure if he will need surgery as of yet. We are waiting to see the cranial facial team. His ped. then started telling me what the scan had found in his brain. I had no clue this was coming. Apparently the white matter of his brain is patchy and has low density. The white matter of the brain is what carries the messages to and from the gray matter (at least that is what I am gathering) telling your body what to do. I guess they are now concerned that Connor might have something called leukodystrophy. It is a genetic disease that comes in many forms. I think there are about 34 different types. It affects the same matter in your brain that muscular dystrophy would affect. The only way we will know for sure is if Connor gets an MRI. I will be making that apt on monday. Eric and I took the day off work today to gather our thoughts. We are hopeful that this is not what they think it is but rather just another symptom of Connor missing that part of chromosome 21. His 21 has gone and linked itself to chromosome 12 making it look like he is missing one chromosome. 12 is functioning normally. We think what Connor is going through is fairly rare because we cant find much literature on it.

get well soon

Hank just had emergency surgery. He is not even two yet. Poor kitty cat.

Translocation...

http://en.wikipedia.org/wiki/Chromosomal_translocation

I have really refused to use the Internet as my means to educate myself on chromosomes but, I do trust wikipedia for definitions of things. I have been calling Connor's genetics doctor off and on for two days leaving his assistant tons and tons of messages.

My newest information on Connor's situation is translocation. Connor is missing the tail end of chromosome 21 and it has gone and attached itself to chromosome 12 making for one very long chromosome. Chromosome 12 still functions normally and is not affected by the fact 21 is stacked on top of it. Connor's translocation is called a Robertsonian Translocation. Basically instead of having 46 chromosomes, Connor has 45 with 12 and 21 being attached. The way I picture it in my head is that he has one really long chromosome and the rest are normal functioning and in their proper place.

Sadly, I don't know much more than that but according to the genetics assistant, I am handling this very well and seem to have a good grasp as to what is going on with Connor.

Tomorrow will be a big day as it is his CT scan.

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.

Connor's new *thing*

TANTRUMS....

ACK.  I HATE TANTRUMS!!!

Preety much a daily routine in our home now.  Most of them time they come out of the blue and are for no reason what so ever.