Sunday, June 28, 2009

July is around the corner...

With July quickly approaching I can not help but begin to get nervous. Connor will be a very busy boy the first two weeks of July with lots of appointments and tests. These things will finally give us the answers or at least begin to give us the answers to our month long worry.
I have been waiting since June 10 to finally see and speak to Con's genetics doctor face to face. I cant wait to get to the 10th of next month.
My biggest fear is of course, the upcoming MRI. The actual test does not make me nervous because I truly trust the doctors and know they have his best interest in mind (I might change my mind and begin to freak at any moment). It is the results that are weighing heavy on my mind lately. I wish I could google search all the info I know and have the EXACT result at hand to ease my mind a bit.
Eric and I will be getting our blood drawn tomorrow morning(required for genetics testing) to see if Connor's missing chromosome is a normal variance of one of us or something that has started with him. The results of that freak me out even more. If Eric or I also have a missing 21 then does that mean something really is wrong with my sweet boy's little brain?
Why cant I just sit back and relax and not worry so much. I try to distract myself but as the days draw closer, my mind begins to go into overdrive. I am now losing sleep. I know I must wait to cross the bridge when we come to it but, I think I am already at the bridge...WAITING.
Once Connor wakes up, everything will be fine. That smiling face of his is enough to make anyone want to perk up. He is absolutely the very best thing we could have ever asked for.

Thursday, June 25, 2009

And the appointments continue...

That short week long break from the hub bub of my life was much needed but too short lived. We are back at it now, making appointments, going to PT and going to work.
Connor had his 15 month check up today and we also got the approval for Connor's MRI. Connor is now 31 inches long and weighs 23 pounds 6 oz. He is such a good sized boy. His pediatrician was truly so proud of how happy he was going through everything that he is right now. He had one shot and DID NOT MAKE A PEEP. Now that is one brave boy.
His pediatrician said that she was so proud of the progress he is making in PT. She flopped him on his belly and he pushed up immediately. She also mentioned that he was slightly advanced in speech which is such great news to me. It is nice for him to be making such great progress with everything.
Connor's doctor said that she can almost guarantee Connor will need surgery to correct the Metopic Ridge on Connor's skull. We will be hooking up with a cranial facial team at Cedars when we have our genetics appointment on July 10. She gave me all the paper work needed to get his MRI done and told me I could go to the hospital of my choice (thank goodness for wonderful insurance).
She did not talk much about the luekodystrophy that Connor might or might not have. I am thinking the only thing that will give us ANY answers is this MRI. I am now waiting on the hospital to contact the pediatricians office to make the appointment for Con.
He is now napping quietly and I am so proud of my little brave boy!

Sunday, June 21, 2009

Happy Father's Day

My beautiful boy and wonderful husband. Two of the most wonderful things in this world.

Bring on the fun...

So, I had decided that my little family needed a short break from the ups and downs of our little life for a few days and we are doing just that.
To start it off, we had a wonderful dinner with my family last night to celebrate my upcoming birthday. Connor got to see his my cousins who we hardly see anymore, my aunt, sister, nieces and of course, his NaNa. Eric and I really enjoyed ourselves.
We will continue the wonderful break tonight at dinner for Father's Day with Eric's parents. We will be going to a Mexican restaurant Eric's pop used to take him. He will now be going with his son. After dinner we will drive to Disneyland where we will spend the next few days.
Disneyland is doing a promotion this year where you are able to get in for free on your birthday. I have my coupon all printed and ready to go for Monday. Because we are Annual Pass holders, I will already be getting in free that day but, because I have the coupon and it will be my birthday, I get $69.00 (equal to park admission) worth of Disney merchandise. Connor will be coming up a winner this weekend.
I cant wait to get to the hotel. I understand Disneyland is a mere hour or so away from me but I have a very bizarre obsession with hotels. I LOVE them.
After we return from our trip Tuesday evening, we will fall back into routine of making appointments for Connor and going back to work and all the good stuff that goes along with this life I call mine! I truly do love my life as hectic and confusing as it can be.


Saturday, June 20, 2009

I thought I was on a break?

If I am supposed to take a break that I wanted then why the hell do I ONLY think about stuff that is going on.
Come on now, we are supposed to be enjoying a great few days together as a little family and all I can think about are pediatrician visits, MRI's and physical therapy. Come on brain, think about balloons or puppies or anything for that matter!
ACK.

Thursday, June 18, 2009

You deserve a break


We have decided to take a break from doctors, phone calls to doctors and appointments for a few days. Connor is a happy kid and has never once complained about what is going on right now and I sort of want to keep it that way.
His pediatrician was trying to press me to bring Connor in immideatly for a physical exam so that he could get the ok for the MRI. Connor has an apt. next Thrusday for his 15 month check up. I see NOTHING wrong with waiting until then. I AM going to get him an MRI and I AM going to do every single thing his doctors suggest but, this is a lot of news for us to take in and a lot of possibilites for our families to get used to so, I think a break is much needed. Heck, its only a week.
His pediatrician finally agreed with me and told me it would really make no difference. I am making the appointment for the MRI today only because I have a feeling I might not get him in for a week or two.
Other than that phone call, we are going to enjoy Father's Day, a few days off as a family next week, Disneyland for my birthday (maybe) and just not think about the scary stuff.
Connor deserves a break or maybe a bath?

Tuesday, June 16, 2009

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.
=-)

Sunday, June 14, 2009

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.

Saturday, June 13, 2009

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.

Friday, June 12, 2009

get well soon


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

Wednesday, June 10, 2009

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.




Monday, June 8, 2009

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.  
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.

Monday, June 1, 2009

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.