The Flight of the Moody's

Lets JUMP for Joy....

2012-01-09T18:16:00.000-08:00

Connor sure is.
At age 3 years and 9 months, Connor can now jump straight up.
He became determined to learn to jump while he was on winter break. Night and day he tried and tried and boom....by George, he got it.

another first....

2012-01-02T11:56:00.000-08:00

FIRST DOUGHNUT THAT IS. He didnt eat the whole thing but loved what he could eat.

whats in a name....

2011-11-13T16:28:00.000-08:00

EVERYTHING....
Listen very closely. CONNOR SAYS HIS NAME. You will hear the hard C a pause and NER. It sounds like K NER.
We are squealing like girls because we are so proud and Connor is acting crazy because well....hes 3 and thats just what three year olds do.

Look what I can do now...

2011-10-16T14:26:00.000-07:00

someone I love...

2011-09-10T10:58:00.001-07:00

Someone I Love

By Lori Hickman
Someone I love relies on me in ways you will never understand. Someone I love endures pain and challenges that break my heart and renew my spirit at the same time. Someone I love is unable to advocate for themselves for things that most of us take for granted. Someone I love will never have the opportunities that every child should have. Someone I love will need unconditional love and support after I am gone - this frightens me to the core. Someone I love encounters pity, stereotyping responses, and prejudice at every turn, because they look, act, and/or learn differently than others. Someone I love has needs that require me to allow "outsiders" to have power and input in areas that should be mine alone to meet. Someone I love will continue to look to me for everything in life long after other children are able to assume a place as part of the world. Someone I love has needs that require more time and energy than I have to give. Someone I love has needs that mean I am not able to meet basic needs of my own. Someone I love has needs that have become the driving force behind major decisions my family makes. Someone I love has changed me in ways I will never be able to describe. Someone I love has taught me about love and about the really important things in life...
And still others don't understand what it is to be me.. they aren't living in my skin.

A bit sour yet oh so proud...

2011-08-15T12:26:00.000-07:00

My little boy was just diagnosed with Spastic Cerebral Palsy and is now going to be tested for seizures. The doctor has already pretty much made the determination that what we are seeing in Connor is seizures, we just need to do the 72 hour EEG to make sure they are not harming him. I think she wants to make sure he is not an epileptic.
He has quite a few very spastic movements he does on a daily basis where he basically loses all control of his muscles and he just shakes. Its usually due to being excited. We always thought it was just him being adorable. Apparently there is a technical term for it (Which I cant for the life of me remember what it is) and it is also related to seizure like episodes.
Connor will be hooked up to an EEG machine for three full days later this week into the weekend. We will be monitoring his behavior via video as well.
As with a lot of other 3 year olds, Connor suffers from very bad night terrors. This is common for the age, according to the neurologist but we will be video taping his sleep sessions along with the EEG to make sure there is nothing else going on (seizures) while we are sleeping in the other room.
I am secretly hoping that the EEG comes out PERFECT. The doctor informed me that if she gets nothing (which in most cases with kids with developmental delays we might not because they don't happen frequently enough) he will just be monitored to make sure the seizures don't progress. If she does by chance see something, we shall go from there.
Connor doesn't seem to care much about whats happening. This is his life and he wouldn't have it any other way. Secretly, neither would I. :)
Someone decided that Eric and I would be the perfect parents for this very special child. I personally think it is a lesson. I have amazing patience now and have more sympathy for situations then I ever realized. You never know what life is going to bring you and you are most likely not prepared. You will learn more then you ever thought possible and this child will make you realize that different isn't always so bad. As he gets a little older, things are getting tougher as we start to notice more and more but that will never change who he is and I would be upset if it did. :)

A new word...Thats progress

2011-08-05T15:54:00.000-07:00

We have a new word....Purr (for the kitty cat that is). It sounds more like PUH but you get the idea.
Here is video number two. This is from the end of the second week on Nutriiveda.

Some new things Connor is doing-
He is associating words with emotions. He has NEVER done this before.
We went to the store today and Connor got a balloon. He was so excited. He told us later in the car-"PUH". and then made the sound of a cat purring. I asked he what he was talking about and he said "lala (Shirley the kitty cat) PUH". "Are you happy you got a balloon and are purring like Shirley when she is happy"? Connor-"YEA"!!
AWESOME!!!!

A first....

2011-07-30T16:51:00.000-07:00

Connors first movie (in the theater)
Winnie the Pooh

Didnt think it would be such a hit but he keeps making bee sounds and signing more meaning he wants to see more of that honey pot. :)

lets communicate...

2011-07-28T14:59:00.000-07:00

We are on a mission to help the Con man become less frustrated with not only himself but us as well. I have started him on a product called Nutriiveda. It is an all natural food supplement used in adults for weight loss but proven in children to help improve speech. I have seen so many videos of children taking Nutriiveda (NV) and how much it has improved their speech and their lives that we just couldn't pass it up. I have not seen any videos of children with chromosome abnormalities or of children with other problems on top of speech issues but I am sure they are out there. I truly do not believe this will all of a sudden make Connor talk because as well all know, he has to learn to do that but I do feel that this will give him the confidence and ability to learn the words to help him communicate with us.
I am willing to try anything at this point. I am having a hard time understanding the grunts and crooked pointing and would love just one or two words to come out of that perfect little mouth of his.
He has been on NV for two weeks now. I will be taking a video of him later today or tomorrow and posting it here.
The video here is taken the night we started him on it.
I have noticed a major difference in the sounds he is making and found he is falling less which is awesome. He will go on and on and on for about 5 minutes now just babbling badabadladababa......
this is all brand new. :)
Here is video number one prior to NV

Follow that bird...

2011-01-27T13:11:00.000-08:00

this is what you do....

2010-12-19T12:50:00.000-08:00

when you are not feeling well enough to go out to your gym class to play with friends but don't want to stay inside all day. This is day three of what is supposed to be six days of rain.

WELL.....

2010-12-14T16:46:00.000-08:00

We make too much money. I'm bitter.
ENOUGH SAID.

Never thought I would say....

2010-12-13T19:47:00.000-08:00

I sure hope we don't make too much money.
Yep, that's right. I am praying and hoping to not be overqualified for SSI for Connor.
We got the call today from the U.S Government. Connor has qualified for SSI services (thank goodness). Now we have to go to the SS office and turn in 7.5 months worth of pay stubs. I was told we would receive a letter after that letting us now either what Connor's income would be or if we were rejected due to income. I cant believe a child who is declared disabled by the government has to depend on weather or not his parents make too little or too much money.
The money will go to good use if our income is accepted. Connor will be able to continue with his current speech therapist even after he starts school next March. With out the extra income, we will lose Diane due to the fact that the state will no longer be paying it and we cant afford $130 an hour.
I am a bit relieved to know that he does qualify. It makes me feel more confident that he will get all he needs when he starts school.
I have never in my life worried so much over one person before. Oh, motherhood!

30 days of waiting...

2010-11-21T06:40:00.000-08:00

Apparently we have 30 days until we here if Con will get disability or not.
Our fingers are crossed but our hopes are not up.
Con had his mental eval through the state for SSI purposes on Friday. It was a long wait and Connor was such a perfect boy. He amazes me with his patience and listening skills.
Once we were in the office, I was asked what seemed like hundreds of questions regarding Connor's capabilities. Can he do this does he do that, blah, blah, blah. The doctor then brought out some pictures for Connor to identify. He got the first set RIGHT. I was so proud but nervous because we are trying to get something he deserves through the state and they are very unreasonable sometimes. He then brought out a picture with four fruits. All of which I know Con knows. He didn't even scan the page. He got them all wrong. I am not sure why he didn't even try. Then, out came this GIANT chart of colors. Connor has no clue what colors are what. He failed that one as well.
We were told that we should receive a letter from the state in 30 days. Not sure if this means we will have another test in 30 or our answer will be coming in 30. We shall see.

Did you know a 2 1/2 year old should be able to at least attempt to pour themselves a glass of tap water? INSANE. I had no clue when the doctor asked me if he could do that.

Making a List and Checking it Twice...

2010-11-11T06:39:00.000-08:00

With the holidays right around the corner, I must start my list of family members and friends to make sure everyone receives a holiday card.
I have used shutterfly for some time now. We even have a share site through them for family who happen to live in different states. For Connor's first Mother's Day gift to his grandma's we created a collage and framed them. We also recently ordered Fall Cards for family and friends.
This year we will sending out holiday cards from shutterfly. They have so many designs to choose from it makes it fun to "window shop" for that perfect card. They have some beautiful Christmas cards to choose from and some wonderful New Year party invitations for those of us who might be throwing a get together to celebrate the new year.
I am thinking about getting my son's grandfathers a desk calendar for their home of office. They could then look at their beautiful grandson on a daily basis.
They offer wonderful prices on prints and I have never had a problem with the quality of the prints.
Shutterfly is a wonderful site and I cant wait to use them again for our cards this year.

For anyone interested in blogging about Shutterfly and receiving a set of holiday cards, please follow the link.
http://blog.shutterfly.com/5358/holiday2010-blog-submission-form/

Laying out the truth

2010-11-04T06:09:00.000-07:00

So, I have become accustomed to candy coating most of what is currently going on in my life. I do this for several reasons: 1. It makes me feel better about my situation 2. Most people have no clue what it is I am talking about when I try and explain things 3. I am sick of getting the same response over and over again 4. I am tired of feeling sorry for myself and my family.

I cant candy coat things forever. It has finally gotten to me. I knew it would at some point. I was warned that keeping most of my feelings in would eventually lead me to bust and it has. My head is spinning. I am moody and to be quite honest, a bit depressed.
I almost never curse and every other word running through my head is fuck, fuck fuck.

My son is the light of my life. He is my soul. I love him more than life itself and would jump in front of bullets for him. He is what makes me want to get up in the morning. He is the reason I candy coat everything.
Who knew that when you gave birth to this little thing that appears so very perfect to you, so much could go wrong? Who knew that when you found out exactly what was wrong, it would make you feel worse and make you cry more than you ever had in your whole entire life? Who knew that 1 1/2 years after finding out your son was missing a piece of a chromosome and about 86 genes, you would still feel like shit every day and still sit crying?

I would never trade him for the world but it is getting harder and harder to mask my emotions for him so, I decided to write them all down in hopes that I might get a little relief for awhile.

I wish more people understood Connor's deletion, including myself, his doctors and people around us. I am sick and tired of people telling me "oh, I am sure he will catch up", or "well, he looks great". Yes, thank you for that but that makes me feel worse. He is not catching up and yes, I already know he looks great because he is the greatest and most handsome human being around but, he is not great. Poor guy has a tough life and never complains. I complain for him because I have NEVER had to do half the stuff he has to do and I never will have to. That is not fair.
It's not fair to wake up your son almost every day from a sound sleep to go to a three hour therapy session. It is not fair to watch your son fall OVER AND OVER again hitting his head crying in pain because he has horrible balance. It is not fair to have to strap your son into these god awful braces every night preventing him from moving his little legs to get comfortable. It's not fair that I sit here crying to the point that I cant see. It's not fair that my son is labeled as retarded and everyone else around me has these "normal" little children that can run and talk and play with toys without having to be told how to use the toy every single time. WHY? It's really not fair. What did I do?
Connor deserves SSI. He needs these benefits and/or the money to help us pay for the medical bills. I want to spit on the social security office. You have proof he is missing vital genes to live a normal life with out assistance and you still are making him go through test after test? Fuck you. He flunked your speech test, why do you need to make him go though a mental evaluation? You have the proof that the doctor labeled him as retarded (something that makes me cringe every day). Why do you need to make us go through a test to see what degree of mental retardation he is at? Don't you know that this bothers us and it's not fair? What else are you going to make this poor boy go through to possibly get the money and benefits he deserves?
I am sick and tired of my husband telling me everything will be ok. I am sure it will when I am done feeling guilty and horrible inside but you, my love, are not the person who takes him to these appointments, you are not the one who goes to every therapy session. You don't have to wake up your son to take him to PT, OT or speech. You for some reason have a fear of driving and make me, your wife, wake up and take you to work every day. When the hell do I get a fucking day off?
I cant do this anymore. I cant sit here and tell myself everything is ok. I don't want Connor in special education. I don't want Connor to wear braces. I want Connor to talk, to run, to not fall, to have a normal brain, to not see hundreds of doctors and I want those 86 genes that he is missing back. I want to know why this bothers me so much and why it bothers me when people tell me it is ok. It's not ok. You don't have to do this everyday and you don't have to feel the guilt of knowing this is not fair. You don't have to look at your son who never complains and wish that he knew another type of life.
It is not fair.

I am sorry for the rant and I am even more sorry for my profanity. I will be keeping this post up only for a few days until I feel better. The goal of this post is to help ME. The more I read it out loud the better I will feel.

Bubble Boy...

2010-10-25T06:53:00.000-07:00

When I found out that Connor had a chromosome deletion we had many ups and downs. We were told more than once that he had a brain disorder and he would possibly not live a full life. We were told he would have heart problems and several other disorders that were so overwhelming to think about at the time (and to be honest still are). Connor saw so many specialists (still does) that first year it was almost hard to keep track of our appointments.
After several months of tests we found out he does not have a brain disorder (thank God) but does have an underdeveloped brain and missing gray matter that to all of his doctors does look exactly the same as some very serious diseases. I cant tell you how lucky I feel to know that Connor is somewhat a miracle. He has so much going on but all in all it could be worse. I personally know a few people who's children do have this particular disease and I know they would trade places with me in a heart beat. I don't care if my child's brain is missing vital information and I don't care that my son has "special needs". I HAVE my son. Who can ask for more. It pains me to think of all the parents that lose their children. They are supposed to watch us pass. It should not be the other way around. I do more research then needed and have become sort of an advocate for children with Chromosome Deletions. I wish it was more widely understood.
As rare as Connor's condition is and as confusing as it is too his doctors and to us, there are other children and parents out there even more confused.
I do notice as Connor gets older that it is affecting him more and he has many more challenges than he did a year ago which just prepares us for more doctors and more therapies. His life is our life lesson. He has taught me patience, strength and structure.
He is by far my soul mate and my hero. Not to mention our little miracle.
When we were told that he had a chromosome deletion and began all testing and brain scans, Eric and I were very confused. I became picture crazy because I didn't know at the time weather or not it was a fatal condition, a normal condition, rare or what have you. I started documenting everything and to this day still do. Each day is a different day and the most special day with Connor.
I took a photo of Connor in a bubble bath starting at the age of four months when I took him out of his bath sling. Connor was not able to sit up properly on his own (for more than a few minutes) until over a year so laying in the tub was normal for us and the happiest times for Connor. He still prefers to lay in the tub to this day. At around 23ish months he became very afraid of bubble baths so I had to stop shooting my "bubble boy" shots at the age of two.
I am now in the process of editing them to black and white, finding proper frames, blowing them up and displaying my beautiful son in my apartment.
I have so many shots of Connor that it is hard to believe that I still have a workable index finger. I cant believe it hasn't fallen off yet. But, until they find other kids with the exact deletion as him and until I can go somewhere and say Connor has blah blah blah and someone is able to respond oh, my cousin has that too, I will treat each day like it is a special day.

4 months

8 months

13 months

16 months

20 months

(the fear of bubbles was beginning)

24 months

The last shot of Connor as "bubble boy"

a list of ten

2010-10-03T06:22:00.000-07:00

10 things that have changed since I have been married and/or had a child...

1. I have no time to cut my hair which used to be maintained short on a regular basis.

2. The only people that call me on a regular basis anymore are my parents and telemarketers.

3. When my parents call, they don't want to know how I am, they want to know how Connor is.

4. I never get invited out with friends. When I say never, I honestly mean NEVER.

5. I am pretty sure I don't have "real" friends anymore.

6. Connor and Eric are my life.

7. I gained 50 some odd pounds

8. I lost 20 of those pounds

9. My patience level has improved profoundly.

10. I miss going out.

Lets take a trip....

2010-09-18T06:33:00.000-07:00

To our local fire house.
We took Connor to the fire station recently because he has shown a major obsession with trucks and sirens lately. Every time I fire truck or emergency vehicle drive by with their sirens and lights on Connor cries when they are gone and signs for more. Sadly he does not quite get the concept yet that they are on their way to save lives and can not stop for him.
The tour was amazing. They showed us EVERYTHING. The ambulance, fire trucks (inside and out), all of their emergency equipment, the tower where they dry their hoses, living quarters, kitchen and locker room.
Connor was scared at first. I don't think he realized how big the trucks actually were. But, within ten minutes you would have thought the kid lived their. The firemen were so kind. We all got stickers and Connor got quite a few goodies and memories to take home with him. He now waves every time a fire truck drives by.
We cant wait to take him again.

Happy Birthday Pa Pa

2010-09-12T16:21:00.000-07:00

September 8 was my husband's birthday. I knew exactly what I was going to get him and I usually tag on a gift or two and say it is from Connor but this year I wanted to do something different. So, I stole the idea from a friend and took Connor shopping for him to choose gifts on his own.
We took five dollars from Connor's piggy bank and drove over to the brand new Dollar Tree a few minutes away. I explained to Connor what we were doing and that he was to get what ever he felt Pa Pa would want or need. I had to remind him several times that we were there for Eric and not for Connor.
It was so cute to watch him go through the store several times and chose these very special gifts. He loved it so much that he borrowed three dollars from me because five presents just wasn't enough.

I have my money and I am ready to go.In we go.

He went straight for the rope and chose green for pa pa.

He wanted this basket but was unable to get it out.of course we need T.P

.This way!

A much need cup cozy for Connor's non bike riding pa pa.

He wanted this animal...but decided on this.

He had to be reminded we where here for Eric and not for Connor.

Oh, he knew pa pa wanted lotion.

something pretty and something cool.all done.Happy Birthday Pa Pa. We love you.

Truly one of a kind....

2010-08-15T06:03:00.000-07:00

Yep, it is true. This kid is not only unique but a true genuine, one of a kind.

We had Con's annual genetics appointment this past Friday and everything went as well as expected. The appointments are stressful for my family because I need to make sure I have all of the questions I have gathered over the last year written down and the fact that we don't really know what they are going to say to us. I could not help thinking that they may have found something not so good when studying Connor's deletion this past year. Thank goodness that was not the case this time.

They still have yet to find another person with the same deletion as Connor making him the only one still. Kind of neat that someday Connor will be the person some doctor will be comparing their patient to if someone else ever becomes diagnosed with this particular deletion.

Good news is that there was an article released earlier this year documenting three cases of 21Q deletions (yes, Connor's deletion finally has a name). All of the three cases had similar deletions to one another but very different from Connors. Connor's deletion is the largest recorded so far missing a total of 82 genes and enzymes but even though it is the largest, we got lucky some how. Two of the three cases had very small deletions but they were missing a particular gene (IT1something or rather) that causes severe mental disabilities (I do not like the R word so I will be using the word disabilities instead). Connor's deletion literally stops right behind that gene leaving him both copies. (YAY)! He doctor did diagnose him as being mildly mentally disabled (again no R word please even though the doctor used it several times) and even though I knew that, I had a hard time hearing it from a professional. The article was really nice to know that there are some other cases out there. A 21Q deletion is extremely rare but I am still determined to find another kid out there EXACTLY like my boy. I keep looking at this article just so pleased that I have a little something to compare him to now even though it is not what I had exactly hoped for.

Apparently the first ever recorded case with a deletion similar to Connor's was in 1964. I believe these other cases from the article are more recent than that but I am not sure.

We spoke about Connor's amazing progress and finally brought up his speech which at this point is my main concern. He mentioned to us that Connor's brain is underdeveloped which we knew but it is also very narrow making it hard for him to process speech since it is done in the frontal lobe. He told us that he should talk but it is unknown as to if it will be normal like you or I or if he might have a slur or speak slightly slower. He also could not tell us when. It could be in a year or 5 years. If by chance he is still unable to talk properly when Kindergarten rolls around, there are computerized talking devices available to help him in school. This is all such good news. We will continue speech therapy and possibly ask for more. We are excited to enter him into special education pre school when he turns three. He will be able to learn so much more there and finally meet a friend or two.

We came across some health problems we will be addressing in the next few months as well. Connor will be getting an eye exam due to the shape of his lids and my concern with his peripheral vision. He will also be going to a GI doctor due to the fact that the genetics doctor has diagnosed him with PICA. I had never heard of that before and thought Connor's need to put everything in his mouth was just something he needed as a stimulation. Turns out he is not mouthing his books or his babies but he is actually eating them. That is why he rips the strings out of his babies and gnaws on the ends of his board books. His body for some strange reason is craving those things. He also eats cat food daily but we of course discourage that behavior. I find it to be so odd that your body can crave something so unappetizing. I know my mom used to eat dirt as a child and it turned out she had a very bad kidney problem and needed lots of medications. We are hoping Connor is just missing an enzyme or vitamin due to his deletion. The doctor mentioned that it could be psychological and if that was the case it would be a very, very hard habit to deal with. Lets just hope for the best and pray it is a vitamin or enzyme deficiency. I am so happy to see a GI doctor because not only will we address this PICA issue but now I can get to the bottom of his chronic constipation/diarrhea. That poor kid has never had a normal bowel. It is one extreme or the other.

Other than that, Connor looks great and has made great progress. We were told he is a very charming little boy and definitely one of a kind. They also mentioned that he is proof that Early Intervention works.

I am one proud mommy!

It is hard to see reality sometimes

2010-08-08T06:32:00.000-07:00

I am with my son every day almost all day long. I see him making tremendous progress and learning new things each day. He is walking now and improving his balance each day. He is now more aware of his surroundings and makes daily observations. With a special spoon, he is starting to feed himself with tableware instead of his hands (sometimes) and his fine motor skills have skyrocketed.
With all of these improvements it is really hard to tell how delayed Connor really is until he is faced with a peer. Darn those peers for shoving reality back into prospective for mommy and daddy. With so many jumps of improvement I rarely feel he is so far behind. I love him just the same but, I need to remember for his sake that he needs extra help in all areas, probably for a very long time.
I am now beginning to see how delayed his brain is. I guess he just doesn't get things the way we do. I am concerned he might not retain information correctly.
He is getting help for his gross and fine motor. We are in speech therapy (which is another MAJOR concern) and he loves his new therapist but, who helps with mental delays? I have never posed a concern for that before to his doctors.
I think I am just nervous. He sees his genetics doctor next week and already I have 2 pages of questions and concerns regarding his future.
He needs to start school in about six months and I am scared to death. The school district will be assessing him next month to see what type of special education he needs. School will be so good for him but so hard for me. It is not going to be easy to let my little man go for a long period of time each day.
Only time will tell, I guess.

The carefree life of a two year old....

2010-08-01T12:07:00.000-07:00

Eating churros and chasing pigeons. Life cant get much better than this.

I never get bored

2010-07-27T19:22:00.000-07:00

Of looking at this face!

I love you and good night....

2010-07-21T19:10:00.000-07:00

Dat Oon (love you) and inth (night night) is the absolute best part of putting my son down to sleep at night. He has now taken to saying it with out being prompted.
I will miss his special way of saying things when he learns to talk.
He is amazing.

a near impossible task...

2010-07-19T10:06:00.000-07:00

getting this kid to keep on his hand splints. I put them on, he rips them off.
aw well. Cant win them all.

Please, tell me again...

2010-07-12T10:17:00.000-07:00

Where does the time go?????

Eric, Hank and Connor 2008

Eric, Hank and Connor2010

Give him a break. PLEASE!

2010-07-04T06:07:00.000-07:00

And here we go again. I had a very emotional week this week after all of Connor's therapy sessions.
On Monday, during speech, I was concerned with Connor regressing from some of the sounds he was making. It is as if they have vanished from his mind. Turns out Connor may have a very serious speech disorder that would cause him to have difficulty learning to speak for many years. If he does have Apraxia it would explain a lot and make us feel a lot better for him not learning to speak yet. Sadly, Connor might be too young still to formally test him for Apraxia so, his therapist is going to do an informal test and see where he might be with out giving him a real diagnosis until he is able to meet the age criteria.
From what I have read, Apraxia is a neurological disorder where the brain is unable to send the message to the mouth. It all makes sense for Con. His brain is underdeveloped and his muscles (the tongue as well) don't work as well as they should. It is going to be on long, long road for speech.
So that was Mondays therapy.
Then we have Thursday...
Connor has PT/OT Thursdays and is there for quite awhile. He loves everyone but has his moments like the rest of us.
I sit in the waiting room and wait for his therapist to come and get me after his sessions. When we spoke on Thursday she mentioned to me that he was hitting quite a bit and pinching other therapists working in the room along with a little boy named Nathan. When he did not want to play with a toy or finish a task (I believe it was stacking pegs) he began mouthing the pegs and/or toy and biting and hitting himself. WHAT? Where is this behavior coming from.
She mentioned to me that he might benefit from behavioral therapy or a behavioral interventionist. I was appalled. It made me feel like Eric and I are not doing our job as a parent teaching him right from wrong. My stomach was in knots as I drove home looking at my sweet boy eating his lunch in the car.
Once home, I put the boy down for a nap and called his regional center coordinator. She said they offer ABA therapy which is something that almost all parents of autistic children want for their kids. Connor, although not autistic, might benefit largely from it. From what she told me, they help with not only behavior issues but also implement all of the things he may be learning in therapy.
After lots of conversations with therapists, my husband, my mom and sister (both in special education), we have come to the conclusion that Connor's behavior is stemmed from his inability to communicate. Makes so much sense now.
So, my mom is bringing home a special program to make a real communication board for Connor and we are now looking into taking American Sign Language classes for him. Baby signs just are not cutting it as Connor is almost at age level receptively so he knows he wants to say more than one little sign.
Lets hope it all comes into play soon.
His speech therapist is taking tomorrow off to observed the holiday so we will have to wait until the following week to have a real talk about this. I really need to get Connor on a program where he works on the same things over and over and not try to do new sounds each week.
ACK, this is a bit overwhelming for me as I sit here and write this.
The beauty of Connor though, he NEVER complains.

and the bravery award goes to....

2010-06-22T19:44:00.000-07:00

Mr. Connor Moody!!!!!!!
You have gone through and continue to go through so much with hardly a peep or complaints.
You have therapy several times a week, have to see countless numbers of doctors, wear braces on your hands and legs and have nothing but smiles to offer to people.

(before surgery)

(checking out his GIANT booties)

You had surgery yesterday morning, are in an insane amount of pain but still continue to smile and dance while laying lazily on the couch.

(right after surgery. lots of pain)

The nurse at the hospital did a horrible job taking out your I.V. from your foot and you hardly screamed even though it was clear you were in agony.

We can hardly change your diaper right now without you wincing but somehow you still manage to look into mommy and daddy's eyes and say dack oon (love you).

For this Connor-you are by far the bravest little boy mommy and daddy will ever know and you deserve this award with love!

To my wonderful husband

2010-06-20T16:53:00.000-07:00

Happy Father's Day. You are an incredible father to our son. Connor and I are so lucky to have you in our lives.
Enjoy this day with your boy!

We love you!

A big boy now...

2010-06-17T12:50:00.000-07:00

Connor has therapy several times a week and on Thursdays we find ourselves there for hours. It is by far his favorite day of therapy so I am sure he doesn't mind the long sessions.
Today was a big day for Connor. He was able to climb the stairs holding onto just one hand of the therapist and he practiced walking on a balance beam. As his therapist came out to tell me all of this good progress she also mentioned to me that she now believes he can be classified in the 15-18 month category physically.
This is amazing news. Six months ago he was 12-15 months. He is beginning to progress quickly.
I am a very proud mommy.

Did I just seriously notice this now....

2010-06-11T19:18:00.000-07:00

I have the most adorable little boy imaginable...

Time to bring them down....

2010-06-07T09:00:00.000-07:00

It is finally time for Connor to have surgery on his little testicles. Connor has seen a urologist a few times now and we all hoped that once Connor started walking, gravity would do its job and they would come down on their own. No such luck this time. In fact, the left testicle has gotten higher than the last time the doctor checked.
He will be having both brought down on June 21. It should be a very simple procedure lasting no more than two hours. He will be able to go home later the same day. I am not so nervous about the surgery itself but more so about the anesthesia. I was a nervous wreck last year during his MRI so I am sure this will be no different.
There are a few good things about getting this down while he is so young...
1. He wont remember this when he is older.
2. Connor should recover within several days to a week.
3. He will be showered with love and I am sure presents.
Eric and I had the time off from work already to celebrate my birthday so instead of doing that this year, we will be using the time off to celebrate Connor having testicles in the right place.

I don't understand....

2010-05-24T06:44:00.000-07:00

So far, the toughest hurdle for Connor has been speech. He KNOWS he is saying something to us yet, we have not clue what it is and cannot understand him. All of his words sound the same. I think he has about 6-7 words which are clear and we are able to understand. He has a phonetics problem where he hears the words we say clearly but for some reason the brain does not send the message to the mouth correctly. He either says the word back words or might only say half of the word. Some words he hears completely differently.
We tell him LOVE YOU and is response is "bot boo"(or something of that nature). The good thing for us is that he has all of the correct syllables and he is saying his own words in the same fashion we would say ours.
It is going to be a long road of learning how to talk.
I have decided to start making charts for Connor. It is too difficult for him to ask us something. He knows what he wants but we cant quite understand him yet. I will be taking pictures of basic things and when he wants or needs something I will go ahead and ask him what it is. This way I can help him learn "our" language a little better and can understand "his" language at the same time.

This one hits home...

2010-05-17T09:06:00.000-07:00

A friend of mine sent me this poem. It had me in tears. It is a beautiful poem about raising a child with special needs.

"Welcome to Holland"

By Emily Perl Kingsley, 1987. All rights reserved.

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandt's.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away...because the loss of that dream is a very very significant loss. But...if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

A new comfort friend

2010-05-13T15:16:00.000-07:00

Connor has always had the need to put things in his mouth. He is delayed and because of that is still in the "everything goes in the mouth" stage. He is old enough for us to let him know that we don't put toys in our mouths but recently it has become some sort of a necessity for him.
It is now to the point that he gets very frustrated with one thing or another and either bites himself or the object he has become frustrated with. He has also proceeded to start sucking and clamping down on just about every toy and "baby" he has.
I finally mentioned it to his occupational therapist today and she suggested a vibrating teething ringthat she uses for some of her other patients that have sensory issues. I honestly thought it was silly. Connor is two years old and has all of his teeth. What good would a little teething star do for his need to put everything in his mouth.

BOY WAS I WRONG. This thing is a life saver and the boy just adores it. He has not let go of it and has not ripped a single thread out of his "lovey" (a new mouthing habit he recently started).
He got frustrated and upset a few moments ago because he had a piece of thread on his foot and he started to bite his shirt and I told him to breathe and bite his star. He sat there for quite a few minutes holding the vibrating star in his mouth and soon all was fine with him. I am sure I am starting another bad habit but now he can play with toys and not mouth them and not beat himself up so badly.

Thank you learning curve for your teething star!!!

Happy Mothers Day

2010-05-09T15:12:00.000-07:00

Today has been wonderful. Connor has been well behaved and happy all day. We went and enjoyed a wonderful lunch with my sister, nieces and my mom. The food was horrible but the company was more than I could have asked for. My niece Emma is in love with Connor and I was so happy to enjoy watching them interact with each other (Emma is 18 months older than Connor). He just loves the attention he gets from her.I am now at home playing with photoshop and cant wait to eat my grilled salami and cheese sandwiches I have requested Eric to make me for dinner.

Enjoy and happy mother's day to all you wonderful mommies out there.

A little list of accomplishments...

2010-05-06T11:59:00.001-07:00

My little boy is just amazing. He has come so far and in honor of him being my favorite person; I have decided to make a list of his recent accomplishments.

1.began walking in March 2010 and began taking steps backwards in May 2010

2.starting to show interest in using a spoon (a huge accomplishment considering his hands and arms don't turn and flex as easily as ours)

3.beginning to say some words. I think we are up to about 7 or 8 words now and he tries to make new sounds daily.

4.when I ask him to sing me a song he (in a very adorable high pitch voice) says DA DA DA (la la la).

5.he will be fitted for braces for his legs next week which will in turn straighten him and improve his balance.

6.CRAYONS! he finally is interested and can mark a paper with out my help.

7.His cast came off last week and he is now applying pressure to his left arm and has stop babying it.

I am sure the list can go on forever but since he is now crying for my attention I shall end it here.

We sure have come a long way.

Where to start?

2010-04-05T07:41:00.000-07:00

It has been far to long since I have updated about this life I am leading.

Lets see...

Connor saw a heart doctor who determined he has an innocent heart murmur and his heart happens to be in top notch condition. Thank goodness. His chromosome deletion did not give him any heart conditions.

Shortly after that, he turned the big TWO. I cant believe my special little man is two years old.

We had a nice family party and then went to Disneyland to continue our celebration for a few days.

We returned from Disneyland and Eric returned to work. I was still on vacation for a few more days.

Four days into his third year on Earth, Connor stood up, fell down and broke his arm.

We were not sure what was going on at first as it did not look broken to us. We took him the the ER the next morning and well, here we sit now with a casted arm. He is miserable. He wants the cast "UP" which is off in Connor speak. He is constantly falling due to his balance being off and now his face is a black and blue map. He hits himself in his sleep with hit and falls on it daily. I feel for him. He never complains.

Thank goodness it will heal in three short weeks and be good as new in a few months.

What will happen next?

Let the fun begin...

2010-03-09T09:37:00.000-08:00

Connor is officially walking now. I am amazed how fast it happened. He was taking no more than 5-9 steps a few days ago before falling and now I lose count as to how many he is taking. He is so determined. I am more proud of him than I can put into words. He is beating so many odds. I sort of knew he would walk at some point and cant believe it happened so fast.
He is making so much progress in speech as well. We were told he might talk which of course is scary to think that there is a possibility he might not but, he is babbling more and more and making sounds that can be words. He is simply amazing.
He has taught me more in two short years than I have learned in my 32 years here on Earth.
Connor can be a lesson to us all. He is determined, patient, happy and content in any situation he is given. I complain every time I take him to therapy but, he never makes a peep. He smiles, flirts and does what they tell him to do.
I am more than honored to travel on this road of life with him and thank God every day that he chose Eric and I to be his parents and learn from him.
Connor is my heart.
Let the fun of a walking toddler begin...

The paranoid woman...

2010-02-15T09:08:00.000-08:00

Connor's chromosomal condition still confuses me more than words can describe. Instead of a syndrome we have a list of could be's, maybes, no's and yeses. I understand my role as his mother and I know that I need to do some things to check the list of maybe's each year. This is all fine to me but why cant I find any info on the internet or from his doctors at that regrading his specific deletion?

Today I decided to look up Connor's chromosomal translocation to see if that led me anywhere. Well, it did. Straight to leukemia. Now I am paranoid and think it might be a possibility that he could be at a higher risk due to the 12,21 translocation. Connor is relatively tiny for his age (due to missing genes) and does not grow very quickly. I wrote his genetics doctor explaining that yes I am over protective and yes I can be a bit paranoid at times but is this something I need to be worried about? I hope they don't think of me as being a freak or anything.

If I had some answers that better explained this whole situation, I might not be such a nervous wreck all the time.

ACK!

Finally on a roll...

2010-02-07T12:28:00.000-08:00

We finally have all of C's therapies set. He had his last session with Daren last Tuesday, Feb. 2. It was a lot easier than I thought it was going to be because Connor was in a ridiculously good mood. He shouted and smiled the whole session. We took a few pictures of Daren and Connor together and exchanged email. I will send him the photos I took and will also go ahead and send a video of Connor once he starts walking. I feel it is the least we can do considering with out him, Connor would not be where he is now.

Con started PT with his new therapist Thursday (I cant remember her name for the life of me right now) and also finally began OT. He LOVES his occupational therapist, Leslie. She is so sweet and he is smitten on her. His new physical therapist is also very nice and I like how she works. Daren was all about getting Connor to walk but now that he is almost there, it is time we start focusing on his very stiff joints and muscles. Once he is actually walking she said she will let us know weather or not she feels she needs to recommend braces or supports for his knees and legs.

His occupational therapist says that as soon as he gets more mobility in his arms and is able to rotate them more, he will be able to start feeding himself (with silverware) and using crayons and markers.

The one thing that has taken us so long to get through our insurance is Speech therapy. They wanted to deny Connor sessions because in order to get speech one would have had to suffer a stroke or some other debilitating disorder or have a birth defect. I guess our insurance company didnt considering missing genes to be a form of a birth defect. I had to send all of his genetic paperwork to the insurance to prove that he was indeed born with a missing chromosome and does indeed have an underdeveloped frontal brain all causing him to be delayed in speech. After that and after his doctor changed the prescription to chromosomal deletion, we got approved. He will be starting speech Monday. I am the most nervous about this one. I just cant see how leaning to talk will be fun for him. PT and OT are fun because they manipulate his little muscles while he plays with toys. He will have to pay attention to his therapist for speech which, if anyone has a toddler, knows they don't pay attention for long.

I am so excited though to here him learn to speak.

Connor is also continuing to get play therapy through the regional center and that also seems to be doing wonders. I think the play therapy is just enhancing all of his other therapies making it that much easier for him to learn.

Now that we have all of his therapies in order, my next task is to figure out how to keep my baby a baby a bit longer. I cant believe I am planning his second birthday already. YIKES.

Time to say Bye Bye...

2010-01-28T05:07:00.000-08:00

We will be losing Connor's current physical therapist next week. He has been seeing Connor twice a week for about a year now.

Connor simply adores Darren. If you even mention his name he goes crawling into the living room to look for him and quietly sits by the door to wait for him.

I know he does not understand that we will be losing him but we are trying to explain that Darren has to go bye bye and we will start going to the hospital for out patient services. I am sure once we get to the new therapists office he wont care. They have toys, what can be better than that.

I just feel so bad that Darren will not be able to see Connor actually walk across the room. He is the one that got Connor this far in the first place.

When he started seeing Connor last year in April, he categorized him at being at a 4-5 month level physically. He has since taught him to roll, crawl, pull up and now take steps. He is now at a 11-12 month level physically. WOW, that is amazing to me in less than a year to get him so far. Now if we can get him to a 22 month level all will be perfect.

Connor will be seeing his new therapist as long as the insurance allows which is 20 sessions. Once we expire those, we will go back to the Regional Center and cross our fingers that we will be able to get back Darren.

I wish I could write the state of California a letter stating how horrible I think there budget cuts are and that they should have re-thought where to make the cuts. This has been such a long process for us setting up three therapies through the insurance just to have the regional center pick him up once again after insurance is up.

Oh well, what ever is best for my son is what I am going to do.

Wow, what a difference....

2010-01-14T06:36:00.000-08:00

January 2010
Early April 2008

It is absolutely amazing what a difference almost two years makes in a growing child. Not only has he changed physically, he is also changing mentally. C is becoming very curious and as he begins to move more and become more comfortable with standing and the attempts to walk, he discovers his new ability to do things like annoy his mommy and daddy by pushing the page button on the telephone or turning up the volume on the television to ear plugging loud.

I just cant believe he will soon be two. I am hoping for this year to be even more of a growing experience for all of us. I am positive he will be walking, talking and just making all around progress this year.

We will soon be starting nearly 7-9 hours a week of therapies for C. This will be a time adjusting experience for us all along with the excitement of what he will learn next.

I am at a loss as to what to do for his second party so we are leaning towards a family gathering. He will probably appreciate that more than anything else considering he just truly loves his family.

A new year, a new virus

2010-01-06T18:55:00.000-08:00

It seems as though Connor and I are trapped in virus land. As soon as one of us gets better, boom, one of us is sick again and quickly passes it on. Some how Eric has managed to stay virus free.

This one is a bad one. Connor has had a bad poopy virus for almost a week now. The doctor wants us to come back if his bodily functions are not under control by Friday. My son has NEVER had a diaper rash and well, we now have our first. I wish I could get one instead of him. He is miserable, crying and uncomfortable. Lets hope this virus ends the trend of virus passing. I too have this poopy virus and it SUCKS.

Soon to be a New Year...

2009-12-30T15:19:00.000-08:00

,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...

2009-12-28T19:08:00.000-08:00

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...

2009-12-14T10:26:00.000-08:00

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

2009-12-08T19:15:00.001-08:00

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

2009-12-06T19:16:00.000-08:00

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...

2009-12-03T11:21:00.000-08:00

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...

2009-11-22T15:23:00.000-08:00

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...

2009-11-15T15:07:00.000-08:00

before
the first BUZZ

so handsome
after

The cutest pirate EVER...

2009-11-05T05:25:00.000-08:00

Kidneys...

2009-10-26T14:32:00.000-07:00

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...

2009-10-08T06:11:00.000-07:00

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...

2009-10-04T09:43:00.001-07:00

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

I have to admit-I'm jealous

2009-09-21T10:21:00.000-07:00

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

2009-09-14T06:31:00.000-07:00

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

2009-09-12T15:26:00.000-07:00

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

2009-09-03T05:29:00.000-07:00

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?

2009-08-26T18:41:00.000-07:00

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....

2009-08-20T09:05:00.001-07:00

Away we go...

The breakdown of our son Connor

2009-08-11T18:41:00.000-07:00

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

2009-08-10T14:04:00.001-07:00

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....

2009-08-08T15:15:00.001-07:00

He got me the best wagon ever.

I really dont want to do that mom...

2009-08-03T10:09:00.001-07:00

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

2009-07-30T05:38:00.001-07:00

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?

2009-07-29T14:45:00.000-07:00

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...

2009-07-22T10:23:00.000-07:00

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...

2009-07-19T05:32:00.000-07:00

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!

2009-07-15T16:18:00.001-07:00

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...

2009-07-12T17:50:00.001-07:00

so tiny, helpless and adorable.

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

2009-07-09T18:47:00.000-07:00

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...

2009-07-09T06:32:00.000-07:00

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....

2009-07-06T15:19:00.000-07:00

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....

2009-07-05T09:18:00.001-07:00

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

The happiest baby in the world...

2009-07-02T10:01:00.000-07:00

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...

2009-06-28T06:00:00.000-07:00

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...

2009-06-25T11:12:00.001-07:00

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

2009-06-21T10:32:00.000-07:00

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

Bring on the fun...

2009-06-21T10:23:00.001-07:00

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?

2009-06-20T05:22:00.000-07:00

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

2009-06-18T05:16:00.000-07:00

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...

2009-06-16T15:19:00.000-07:00

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...

2009-06-14T05:12:00.000-07:00

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...

2009-06-13T09:53:00.001-07:00

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

2009-06-12T14:50:00.001-07:00

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

Translocation...

2009-06-10T16:01:00.000-07:00

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

2009-06-08T17:38:00.000-07:00

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

2009-06-01T17:38:00.000-07:00

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...

2009-05-31T05:47:00.000-07:00

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...

2009-05-29T19:13:00.000-07:00

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

Please stand up...

2009-05-19T14:51:00.000-07:00

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...

2009-05-09T18:54:00.001-07:00

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

2009-05-06T15:19:00.000-07:00

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

2009-05-04T06:49:00.001-07:00

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.