Bubble Boy...

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

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....

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

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....

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

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....

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