Soon to be a New Year...

,I must say that I am somewhat glad to see 2009 leave and excited to see what 2010 brings us. 2009 brought my family many challenges from finding out our son has a chromosome deletion and translocation, to the scary thought of him having a horrible and fatal disease to finding out he has an underdeveloped brain. This year has also brought me many hugs and kisses from a wonderful husband and son. I must say that this year has made me a much stronger and more responsible person and has taught me patience and how to hide my feelings very well.

It has brought out my jealous side and has also brought out my lovable and happy side. I will always remember 2009 as being the year we were scared to death of Leukodystrophy and I will never forget the doctor who told us that Connor had that disease. That was the worst three weeks of my life. Finding out he did not have that disease was by far the happiest day of this past year. It honestly makes Connor's issues seem like nothing. The fact is, Connor is here, healthy and happy. It does not matter how many tests, therapies and headache we go through on a daily basis. We do it for him and will continue to do this as long as need be.

Lets hope 2010 brings us good luck and hope. I am hoping for some genius to come along and create some sort of a chromosome replacement for all of those people out there in the same boat as us.

Holiday time in our home...

I finally got a new computer after being offline for over two weeks. Christmas was wonderful and I always get a little sad when it leaves. But, if I want to be reminded of how wonderful Christmas is, I just have to walk into my living room. There lies the aftermath of a wonderful day. I pick up all the toys and gadgets and leave the room only to come back to see that my mini and large tornado's have been at it again. I finally gave up and just left it as is. I will be begging Eric to put it all away tomorrow while I am at work. I, after all, reorganized Con's room to make room for all of his new gifts.

Speech has been put off...

The evil stomach virus that is going around has bitten my little bug. He woke up Sunday morning covered in vomit. We lounged, snuggled and slept most of the day yesterday.

He went to bed very early last night and never made a peep. I figured the virus must be gone. I went to check on him at 4a.m. and he had gotten sick in the night and never cried out. How sad.

He seems more like himself this morning. He has kept down some pedialite and cereal. I am hoping to get some plain pasta in him after he wakes from his nap.

Sadly, our speech therapy appointment will have to wait for another day. I cant risk getting his therapist sick. I am hoping to get him in sometime again this week.

I need to start him in speech soon. He is now showing some interest in mimicking us. He now sticks out his tongue and blows raspberries. Connor is also now trying to say Elmo and for some random reason Lemonade.

He cracks me up.

Lets hope I can get him a new appointment before the new year.

December 9

even pooh bear loves him.
right after we were engaged. Disneyland, November 2005
The greatest wedding EVER! December 9, 2009

On this day three years ago I married the only person I could ever imagine spending every day of my life with. You are my very best friend and my confidant. I look forward to decades and decades with you.

You and I have created such a wonderful life together and have such a wonderful little family. You are by far one amazing husband and father. Connor and I love you more than anything.

It is lame to think this way but I think it's also normal

I have come to accept that my child is quite a bit behind the average 20 month old child in all walks of life and I love him even more for that BUT, I am still so jealous. I wish I could stop thinking about the what ifs and just forget about everything but it just seems impossible to do.

Connor will walk in just a few months, I feel like he is closer everyday but I wish he could be running like his cousins or peers. The doctors feel he SHOULD talk eventually but again, I wish he could let me know what is wrong instead of getting so upset that I cant understand his frustrations and cries. He babbles constantly and signs but sometimes he just needs more to get his point across.

The hardest thing to see is that he is so aware of the fact that he cant do something and I truly believe he knows he should be able to.

I noticed today that he TRIES so hard to form words but for some reason is unable to do so. He wanted so bad to say the word BLUE but all that came out of his perfect little mouth was MMMMLLL. I told him that was an amazing try and he will say the word blue sooner than he knows.

I never show him my jealousy of other kids because he is who he is and God would have had it no other way and neither would we at this point. I just hope as he grows up, things will become a little easier for him.

Therapies that never where...

Apparently I am clearly doing something wrong here. C's doctors have faxed all of his prescriptions for each therapy needed to the proper places (twice I might add) and every time I call to confirm and hopefully make an appointment, I get the run around. I am at my wits end now.

Wish me luck as I attempt to call again right now.

Make up your mind...

My husband is driving me bananas. He wants a flat screen t.v. It is almost all he talks about sometimes. I think its great but he has such strict stipulations in regards to the T.V. It is almost as if the t.v. is more important than us. I found these great T.V.s at Wal-Mart today. I was so excited to share them with him just to get the brush off. Those are not good enough for Prince Eric. I am sorry but we don't have 1500 bucks to waste on a T.V. I don't even spend five bucks on underwear but 1500 is ok?

I tried explaining that we have an abundance of medical bills for Connor piling but and they are getting bigger weekly. I got the brush off.

I guess he will never be satisfied.

ACK!

The new Doo...

before
the first BUZZ

so handsome
after

The cutest pirate EVER...

Kidneys...

Turns out my worry was for nothing. Connor's kidneys are A-OK. I guess we just have an very thristy little man who needs to drink all the time.
I am assuming the kidney ultra sound will be a yearly thing as is most of his tests will be.
I still have yet to make the appointment for the cardiologist or the urologist. I best be making those soon.
I now have to find a new physical, occupational and speech therapist for Connor. With all the budget cuts, the state now makes us go through the insurance first use all those appointments up and then go back to the state.
LAME.

And it starts yet again...

Appointments that is. I thought for sure once we had a diagnosis for Connor things would be ok. I was right in the sense that we feel ok knowing what is going on but very wrong in the sense that I thought we could just move on and live like it never happened. NOPE.
Here is the line up of what is to come....
Connor will be seeing a hand surgeon today.
He will be having a kidney and pelvic ultrasound next week.
I will be making an appointment to see a pediatric cardiologist for an echo cardiogram within the next week or two.
AND
I will also be making an appointment for Connor to see a pediatric urologist shortly.
Most of these appointments are all precautionary measures due to his deletion and translocation but some are because we know it is necessary.
The hand surgeon is something I have always know we need to see. Connor has dislocated thumbs on both hands (the left is much worse). He has always seen an orthopedic doctor but now that he is getting older-it is starting to hinder his abilities to do things. This problem is also caused by his missing genes. I am so hopeful that all he will need is a little brace on his hand to stretch the muscles and tendons but I am the only one this hopeful. My family thinks surgery might be needed. I guess I will find out in a few hours.
The appointment I am most nervous about is his kidney ultrasound. I know kidney problems and heart problems are common but his heart has always sounded great. Connor is ALWAYS thirsty. It just makes me a little nervous that it could be his kidneys. I am also nervous that he might not sit still long enough for the ultra sound. Eric will be with me at that one.
The other appointments will wait until we get back from a weekend trip to see a friend marry.

My husband and son...

What would I do with out them?
They truly make my life perfect!

I have to admit-I'm jealous

I love my son and would very honestly NEVER change a thing about him but I cant help but experience bouts of jealousy on a regular basis. I see Connor every day and never bat an eye at his delays. They don't seem that significant to me when it's just us.
We had a huge weekend of birthday parties this past weekend and it was like a giant slap in the face. There were tons of children there and I was shocked at how much bigger, older and more independent they were compared to my son. Some where even born on the same day as him.
Connor had a blast as did we but I felt so sad when he wanted so bad to climb on the little play motorcycle and couldn't and then a 16 month old little boy had no problem. Connor doesn't know any different but I do. He gets so mad that he cant do something and I have to sit there and fight back tears.
I never say this out loud to anyone other then my family but-IT'S NOT FAIR.
Connor is making leaps and bounds of progress and I hope with all my soul that someday he will catch up and the struggle will be over.
I don't think of myself as a jealous person but, seeing these other children do things so naturally while my son struggles to do things they did 6 months ago aches me.
I wish there was some way to replace missing chromosomes and genes in humans.

Vent Away

So I cant stop thinking about the "what if's" and they happen to be driving me batty.
What if Connor's peditrician had noticed the ridge in his forehead sooner? I noticed it pretty much at birth (they think his sutures were already closed then) but I didnt think anything of it because I didnt know it was something to be concerned about. Would Connor's brain NOT be underdeveloped if we had noticed sooner?
What if we had gotten Con into the Regional Center at an earlier age? Would he be making even more progress?
What if I had done something differently? Maybe I was too old to have a child? Did I cause this chromosome to be missing?
I cant find any support groups out there to help ease my mind and everyone around me seems to think he is just fine. I KNOW he is fine but at the same time, he needs lots of help and work just to do what other 17 and 18 month old children do on there own and even then, he cant really do them.
He was saying a few words a few months ago and those seem to be foreign to him now. He does pick up words here and there but, will they leave his vocabulary?
What does it mean when they say his brain is underdeveloped? I assume there is no damage so then-FIX IT! Develope that brain.
What if Connor gets teased? What will I do? I cant tell that child to stop. I cant talk to his/her parents but that is about it. All I can do is tell my child that he is absolutly the way he should be.
What if I didnt worry so much?

Our trip to the L.A. County Fair

We took C on his first trip to the Los Angeles County Fair. We go every year and are looking forward to sharing the tradition with Connor. It is good fun, food and shopping.
Connor had a blast. We had a slight mishap at the beginning when daddy put too much sun screen on his face but after a good clean up and quick nap we were off to enjoy the day.

The internet has upset me

My husbands birthday is on Tuesday, Sept. 8. I have been ordering a variety of things that I know he would like from the Internet since the beginning of August. I ordered them all from sites I have ordered from before knowing I had PLENTY of time.
I would say on or about the fourth of fifth of August, Eric found some sort of Marvel hardback comic book thing that I could tell he really wanted. As soon as he left the room I hopped onto the net and ordered it. This was ordered from a site I have never ordered from before but get their catalogue all the time.
I have yet to even receive and email stating it has been shipped. They have already taken the money from my account. I go to the site and I punch in the confirmation number and the only info I get is "READY TO SHIP". This thing has been ready to ship since August 20. What the heck people. We have a birthday here.
Lets go!
I am now convinced Eric will not be getting his comic book by Tuesday.
I no longer trust internet shopping.

Why?

Why must Connor destroy everything now that he can crawl? He barely moves considering he has only be crawling for a week yet he manages to destroy a room in less than five minutes.
Why do I continue to follow behind him and pick things up knowing it will be destroyed once again in a few minutes?
I begged for him to crawl and now that he does I wish it would stop!

And now we move....

Away we go...

The breakdown of our son Connor

We finally had our long awaited appointment today with Dr. G. It was a VERY long appointment with lots of questions asked, lots of information given and lots of questions still unanswered.
We got to our appointment at 130 and was seen right away only to have the doctor leave again for an hour to review Connor's MRI and CT scans. Once he returned poor C had fallen asleep. It was perfect because we got all of the questions out of the way before Connor was examined.
From what we gathered, Connor's condition is so rare that he could not find one case that matched Connor's exactly. Instead what he did was researched those closest to him and compared that way. Now that he has seen Connor he will now research Connor's specific symptoms and right a report for us in the next few weeks with all the research he has found.
From our questions and his information this is what we found out today-
Connor's frontal brain is underdeveloped but Dr. G feels confident that he will compensate eventually. This might be why he is physically delayed. It has nothing to do with the sutures closing too early (all of these "issues" are all caused by his chromosomal deletion).
He no longer seems to feel Connor will need surgery on his skull. Connor's brain is almost done developing and it has never been a concern due to his premature closure of the sutures. He feels that they were probably closed upon birth. The ridge in his forehead should not grow anymore but, if we feel it is we will be referred immediately to a specialist.
His new concern seems to be the thumbs. We see an orthopedic doctor every few months but he wants to see a hand specialist and make sure he doesn't have something called Clasp Thumb Condition.
Connor will probably be in some sort of special education classes growing up but because we are already part of the Regional Center, he is already on the right track getting extra help to help in in his development.
There is a 50/50 chance that Connor will pass this onto his own children and even though our blood showed that we did not pass it onto Con, there is a chance that something went wrong in the "creation" of Connor that it could happen again so we have decided it would be best to have just one wonderful child.
We will be getting a kidney and abdomen ultrasound on C because in the other cases that were similar to him, there were some children with kidney problems. They will also be looking at his testicles as they have not dropped yet and seem underdeveloped.
He will also get an echo cardiogram to rule out heart conditions. His heart sounds wonderful but because other children have had heart problems we must make sure.
These will probably be yearly things for Connor growing up.
Dr. G will be looking up each problem Connor is facing in his database to make sure it is all correlated to the missing piece of Chromosome 21.
Even though 21 has moved and attached itself to Chromosome 12, he is not concerned at all with 12. He will also be doing more research to find out exactly what all 30 or so genes that Connor is missing do.
To help further his progress and hopefully help in out for when he is ready for school , we will be starting speech and occupational therapy in the near future.
We will be seeing Dr. G again in one year. But he will be in contact with us periodically as he gathers new information.
It was a great appointment. It is just hard to not really know exactly what will happen with his future but it is great to know that technology gets better and better with time.

08-11-09

Tomorrow is finally the day we get to see C's genetics doctor. We have basically been sitting here in wonder since May. I am a bit nervous but very relieved to finally be seeing this man face to face again.
I have started a list of questions but just know its not enough. I hope to get all the answers I need tomorrow.

My daddy must really love me....

He got me the best wagon ever.

I really dont want to do that mom...

Connor would rather eat paint than actually put it on paper. I have tried for several weeks to reintroduce it to him without success.

It must be delicious.

Practice will make perfect

I think I can do this...
OK-getting into position...
The look of sheer determination...
Well-I cant quite figure out how to move my legs yet but, I am almost there. My mom still thinks I am cute!

Are we playing games here?

So, back in June, Eric and I had our blood taken to see if the chromosome issue Connor is dealing with might have been passed from one of us and we had assumed we would get the results when we had our appointment on July 10. Well, of course they had said I had never made the appointment for July 10 and I had to reschedule for September 8.

I am still convinced that they deleted my appointment and because of that I had demanded an email and regular mail confirmation letter confirming our Sept. appointment.

I received and email last week from Connor's genetics counselor stating that our parent blood work would be ready in a few days. I emailed her back to thank her and reminded her that I still had not received the email or regular mail confirmation for Sept. She emailed me back again with a one line email stating she would contact that scheduling department about sending it out and she typed-Sept. 8, 2009 130pm. That was it. Is that an email confirmation?

So, last week, I received a phone call from the genetics counselor. She said our blood work was in and that they both came back normal. This means that Connor's missing chromosome and trans location started with him. This is a good thing in the sense that now we dont have to give the poor kid more tests to determine what is going on with him. We know the issue and now we just have to figure out exactly what this is going to entail, what will happen in the future and what other doctors might we need to see. She told me that when we see the doctor in Sept., he will go over all the "maybes" that might happen to Connor and we will discuss treatments and doctors for issues we already are aware due to his gene loss. She also said that they know all the names of the genes Connor is missing but don't know what some of them do. That makes me nervous. Does that mean there is not enough research done on them to know or does that mean they are not significant enough to have done research?

Well, here comes the kicker- I once again asked her while I had her on the phone to please send me the mail confirmation regarding his Sept. appointment. I explained once again that I did not want to be accused of not making an appointment and it was very important that I get that paper. She told me not to worry that it was in the mail. OK.

Well, two days later I still have not letter BUT, I get a phone call from her saying that there is a cancellation on August 11 at 130pm and we were the first on the list. I took it and she told me I would receive email confirmation and a letter in the mail. Within minutes I had the email. This email looked much different than the first confirmation from Sept. This was an actual formal letter with instructions, directions and it had a letter header from the hospital. I then got the letter in the mail one day later. Where is the Sept. one that she said was in the mail?

I am now assuming we NEVER had a Sept. appointment. I figure they were waiting until Eric and I got our blood work back to determine what was going on. Well, the issue at hand started with Connor not us and now somehow, it is important? So boom, I have an apt. in two week, I get a professional letter and all this information?

Did Connor not matter if the case was that he got this from one of us? This is crap and the system sucks. What am I 12? What kind of game are we playing here? This is a wonderful hospital but the service sucks. From the research I have been doing, this stuff is pretty common which I find insane.

I am just glad we will be seen in August and Connor can finally get the treatments he may need. I am getting more and more concerned about his sutures so I am hoping to get a referral then for a doctor other wise his pediatrician can refer us.

I think these people need some lessons in class!

I started an epidemic...

I became ill very late Sunday night with what we thought was food poisoning. I was supposed to take Connor into the doctor for his high fever but could not even move at all on Monday. Connor was an angel for me while Eric was at work. I plopped him in bed with me and he played and fell asleep when he became tired.

I took Tuesday off work to finish recovering and we finally took Connor in to the doctor for what was now a rash. Turns out he has Roseola and will be good as new in a week or so.

I went to bed early Tuesday night to make sure I would be 100% Wed. morning for work only to wake up at 1A.M. to a husband violently vomiting in the bathroom and a baby screaming for his mommy while vomiting in his crib (this literally happened all at once). I cleaned up Connor and made sure Eric was ok and we all went back to bed only to wake up three hours later to them both doing it all over again at the same time. Poor Connor was so helpless and scared.

I am now under the assumption that my food poisoning was the stomach flu and I have now passed it to my family. I ended up taking today off work to take care of the clan and I must say that I am sort of annoyed that I had it SO BAD for almost three days and both Eric and Connor are doing much better after just 10 hours. I am glad they are feeling better but I was bed ridden and they are on the couch watching Blues Clues.

I love my sick men and I must say I love the fact that I am no longer feeling like that.

I wish I could get a lawyer...

So, I have been meaning to write this since Thursday but have not had time until now.

We had received the preliminary results of Connors MRI the day he had the test done. They read NEGATIVE for Leukodystrophy and his pediatrician said she should receive the final results no later than Monday. Monday came and went and I had received no call. Finally on Wed. I called and she told me to call the hospital to try and get things moving. She was sure it had to have been read by now.

I called the hospital and sure enough, they either had forgotten to send it or in one of their mass faxes to various offices, it might have gotten lost. She faxed it right away and the pediatricians office called me within minutes to let me know they had received it. OH YEAH!!! Sadly, our doctor had left for the day and would call me Thursday morning.

Bright and early Thursday morning I receive a call from Dr. A. She tells me the final results are in and Connor's brain is NORMAL! "WHAT? Are you sure? The CT scan showed missing white matter and patchiness". She proceeded to tell me that the CT scan is not accurate for that type of work and what they were really looking at on the CT was his skull to see the sutures and the extent of the closure. The pediatric neurological doctor must have seen shadows on the scan that represented this horrible fatal condition and had to warn us. Only the MRI showed the accurate analysis of his brain. There is NO disformation of any kind on his little brain.

So, I proceeded to ask her why the neurological doctor would even tell us something so serious if he knew only an MRI would be the true telling factor? She didn't know the answer to that one. She did tell me that they should have just told her that an MRI was needed for further studies instead of making us think the worse.

I am calling the hospital on Monday and asking for that doctors name. He should not be able to scare families like that.

So, now it looks like we are strictly dealing with a chromosomal issue. According to his pediatrician, as soon as we see the genetics doctor, we will discuss where to go from there. She will refer us to other doctors if needed. She told me that the genetics doctor will give us the complete down low of exactly how many genes he is missing and what that entails. She is also still concerned about his skull and is excited for us to get to meet the facial team in September.

Eric and my blood work will be back sometime this next week and we will finally see for sure if this chromosomal issue came from one of us or if is has started with C. If it did come from one of us its back to the drawing board to see why Connor is so special and unique!!

I wish I knew how to sue someone for false diagnosis. I guess I just better chalk this one up for experience.

Still waiting...PATIENTLY!

It has been more than 1-2 days like the doctor said it would be. I am sitting here, 6 days later to hear from C's pediatrician with his final MRI results. I finally phoned the hospital today and am hoping to hear from his doctor tomorrow. I am keeping those fingers and toes crossed for word that my son is even more perfect than I already thought he was.

As far as our blood test goes regarding Con's chromosomal issue, the genetics counselor said we should get the results next week.

waiting sucks...

I miss this so much...

so tiny, helpless and adorable.

700 pounds just lifted off of my shoulders....

This will be very brief and I will update in details as we know more info but, Connor's pediatrician just called a bit ago and said she got the preliminary report from the hospital regarding Connor's MRI. As far as Leukodystrophy is concerned, it is NEGATIVE. Those were the best words I have EVER HEARD in my life. I started smiling and bawling my eyes out. Eric looked at me and new immediately that our son was not going to lose all of the skills he is learning now and he too started crying. This was the news we prayed for each night in the weeks leading up to this test.

The doctor said the real results will be received in a day or two and we will find out then what is really going on with his little brain but they are certain it is not Leukodystrophy.

I honestly cant tell you how awful I have felt the last few weeks knowing that I might lose my child by the time he is ten. I hope I never have to know that feeling again and I feel for anyone who has had to go through this.

I thank God for my child every day and as of tonight he just became even more wonderful than he was this morning.

This is the best day EVER.

Now if we can just get going with the genetics doctor things really will look up.

Not a happy boy...

Today is the day we take C in for the MRI. I have come to the conclusion that what ever the results are, in the end we will all be just fine. I just cant imagine him have Leukodysrophy and I think because my heart is telling me that it is not that, things just feel a little better.

Connor is not a happy man today at all. He was not allowed food or drink past midnight. He is a thirsty hungry boy right now and is not happy that I am having him stay in his crib (heck, its 630 a.m., he should be sleeping). I know he wants some milk, he is thirsty. I am hoping the drive hospital will be quick. I am almost positive he will be fussy the whole way. It will be breakfast time.

As soon as he wakes up from the test, we will have milk and oatmeal waiting for our brave little man.

I must have made it up....

So, I have been preparing myself with a list of questions to FINALLY ask Con's genetics's doctor face to face. This Friday, July 1o, has been marked on my calendar since June 10.

I emailed his genetics counselor today to confirm the appointment and she emailed me back stating that she spoke to the appointment office and CONNOR HAS NO APPOINTMENT FOR JULY 10. WHAT THE FUCK? (Excuse me). I have been waiting for a month to finally see this doctor face to face and get some freaking answers as to why he is missing a piece of chromosome and why it has trans located itself to another chromosome.

They had absolutely no compassion for my situation which made me even more upset and more angry. I was in tears screaming at this woman on the phone accusing me of never calling for the appointment. I finally said, "so your saying that I am making this up"? She proceeded to tell me she never spoke to me. I guess I must have mysteriously marked it on my calendar and both Eric and I took an extra day off of work just for kicks.

I am appalled by the lack of bed side manor these folks have. I tried my hardest to explain how useless it is for me to receive these results over the phone and then play phone tag for weeks just to get answers to my questions on my answering machine.

I told the genetics counselor that she needs to fit me in on Friday, July 10 and she told me they were booked to capacity. Yeah, booked with Connor's appointment.

Connor's new appointment is SEPTEMBER 8. We will see the doctor and the cranial facial team that same day. They emailed me and told me that if there is a cancellation we will be the first to be told about it. OK, and that does what for me?

Connor's MRI will go on as scheduled this Thursday at 8a.m. At least I know his pediatrician will phone us with the results and let us know weather or not we are looking at Leukodystrophy or not.

I can honestly say I have never in my life been so angry at a doctors office. I don't know why it is that some offices have no feelings what so ever for what families might be going through.

my little hot dog....

Not too happy about the hot dog crown but, we could not resist.

The happiest baby in the world...

NOT ALWAYS.

this is what happens when you combine too many toys and the need to get ready for bed.

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.

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!

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.

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.

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?

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.  

The waiting game...

We are in the middle of getting Con tested for genetic disorders.  Connor is very delayed physically and has a few features that draw concern to his doctor.  

On May 15 he had a genetic apt. at Cedars Hospital.  It was a VERY LONG and drawn out apt. but all in all it went well.  The doctor was concerned and requested that we go down the hall to get Con a very specific chromosome test.  I believe he is looking of something at the end of a particular chromosome.  It was a very expensive test and we were told the results should be in by the end of the month.  HELLO....TODAY IS THE END OF THE MONTH.  WHERE ARE THE RESULTS!

I asked what the doctor thought was going on with Connor and he refused to tell me.  He stated that it would just worry me and make me look on the net and he also did not want to falsely diagnose Connor (which I respect) but, now I am starting to get anxious.  I really would like to know what is going on with my son.

He was very concerned with his skull shape so we will be getting Connor a 3D CT scan on Thursday, June 3.  We are attempting to do the scan while Connor is awake.  I decided that I would prefer to try it this way first before we go ahead and put him under.  I am keeping my fingers crossed this way works.  I am also keeping my fingers crossed that I get a phone call from the doctor tomorrow.

Lets share...

Here mommy, you can have some of my meat loaf!

Please stand up...

Connor is finally attempting to lead us to think he might become active soon.  Standing up from sitting on something other than the ground is the first of many tasks Connor will be accomplishing in the near future.  

We were shocked and so very proud to see him stand up all by himself.  We are very close to rolling over as well so that very well might be his next accomplishment.  He is progressing so nicely in his physical therapy.

I am a very happy momma!

Get the milk OUT...

We just came to find that Connor is sensitive to cow's milk.  We did not expect this to happen considering he has been drinking milk fine for five weeks now.  

It started a few days ago when Connor kept me up for two nights straight ALL NIGHT (and I do mean ALL NIGHT).  Finally, on Thursday, he began vomiting.  I noticed a pattern immediately.  It was always with in 15 minutes of drinking milk.  I honestly never knew so much vomit could possibly come out of a 22 pound human being.  I phoned the doctor and she told me to get lactaid.  I did and that lasted a whole five minutes before it came back up again.

We are now on Soy Milk and so far so good.  The doctor said if he has a reaction, we will be seeing it with in two weeks.  Lets hope soy is a go.

Dang you stupid tooth

Connor has been a doll when it comes to teething.  He started getting teeth VERY YOUNG (maybe 3 months) and has rarely complained.  He is finally getting in his very last molar and he has now decided to grace us with his pain.  I have been up for two nights in a row with a screaming child who clearly seems to be out of control. I wish there was something I could do for him.  Nothing, and I mean NOTHING is working.  He is fine all day long and with in minutes of putting him down for either a nap or sleep at night; all hell breaks loose.  

I am hoping this tooth pops soon and brings us back our little sweet boy.

My busy life

So, I am now realizing that I have absolutely NO FREE TIME.  I drive either myself or the hubs to work everyday (we have one car and I need it to run errands), I clean, cook, shop and take care of the lad.  Eric offers to take the car to work so I can rest but, I end up cleaning instead.  Each day off I have is over come by errands, therapy, swim lessons, cooking and the list can go on.  My job as a mommy is great but I need a break.  Someone give me one hour PLEASE! 

 I was able to escape last week and run to the drugstore alone.  I found myself wandering down every isle utilizing each minute of my time to myself.  It was wonderful.