And the I's Have It

Fun tidbits to remember this stage of Miss I and Mr. I (that is what I am calling them now when I blog) 

Miss I

**My husband was with the kids in the car and Miss I was having a meltdown (these are coming more infrequently now...thank you Jesus!) and apparently shoes were being thrown and whatever she was saying was not well understood by my husband and as the fussing continued all of a sudden Miss I yells out..."I*** (her name) mad!!!!!!!!!  

**Chasing Mr. I with arms wide open saying, "Bi hug!" (translated Big Hug)

**Laughing hysterically when she toots and then hearing her say "I tooted!" (we are trying to teach her this is not appropriate in all settings but don't think she is getting it :)).

**Pushing her in the shopping cart and apparently going too slow because she says, "Go faster!" (that one surprised me)

**Her first 7 word sentence..."I want to turn the light on" (have not heard other sentences this long....yet)

**Always finding her sitting on the heater vent or standing by the electric heater (it's been one of the coldest winters that I remember)

**Being able to get dressed with minimal help or guidance for orientation of clothes, etc. 

**When she wants to be non-compliant, she slurs together the sentence, "I don't want to!"  (we find it somewhat humorous)

Mr. I

**The little hand knocking on the upstairs door from the inside when he awakes from his nap.....doesn't he know he can come out!

**The after dinner yelling to dad,  "Daddy can we play Kung Fu Daddy?" (this is a game where Mr. and Miss I run at my husband and he yells, "Kung Fu Daddy" as he flips them upside down landing on their feet again.  (Despite my pleas to be careful and maybe not do this, the game continues on!)

**The talks of what kind of underwear he will get when potty trained....mickey mouse, bob the builder, thomas the train (which grandma just got for him).....

**Mommy: "Where does pee go?"

    Mr. I:  "In the potty?"

    Mommy: "Where does your pee go?

    Mr. I:  "In my diaper!"

**A lost puppy dog toy for a couple days....mommy to the rescue and a priceless look on his face when it is found!

**Nose kisses before bedtime

**Counting to 20

**Adamant about getting dressed and changing his diaper immediately upon waking in the morning...then being able to open his drawers and pick out his clothes (which he only has a few shirts and pants that he will wear...although he is surprising me lately with wanting to wear a shirt with buttons)

Food for Thought

Just wondering if your house ever looks like this?

 
                         And if you say "no"then I must get the number for your housekeeper!

I was sitting on my chair reading when I got distracted by all the clutter around the house.  Of course, I started thinking that I should be straightening up.  A sigh came out because it seems that I could do this all day long and as soon as the toys are put away the kids will wake up just to take things apart again.  But then another thought came to mind and I had to smile.  It is alright to give in to the clutter of toys because this "kid clutter" means that little people are running around the house playing, wrestling and having fun.  There will be a time when the kids will be grown and all these toys, books, etc. will be gone.  There may be "clutter" in another form as kids move on to different interests but for this hour I can be content with the mess and enjoy the smiles of my two little I's.

Car Seat Wars

There are many things in life that I, at one point in time, have taken for granted....my house, clean water, food on the table, heat...and the list goes on and on.   Although insignificant compared to the ones mentioned, I would like to someday be able to add another to the list: a child that gets into their carseat without a battle.

I don't know when it started (seems like months ago), but Isabella has been refusing to get into her carseat.  She gets into the car and wants to play with the car seat buckle but when I come around and tell her to get in so I cajjjjn buckle her I hear a loud "NO!" and she moves over as far as she can so I can't get her.  If I do reach her and attempt to put her in, she fights me and I literally have to wrestle her into the seat.  It kind of seems funny picturing this as I am writing, but in the moment it is anything but funny.  I have to plan on leaving the house earlier than normal just so we have time for the car seat battle.  I have tried bribing the girl with her favorite things and she has this stubborn side that continues to say "NO"!  I have tried time outs...nothing has worked (stickers worked once but the next time it failed).

This is stressful and brings up unwanted anger at times, but when my patient husband comes in the house with the kids and he is frustrated that he cannot get our dear child into that car seat.....yes, now we have a problem, because he does not get frustrated easily with these kind of issues.

The next morning as I am sitting at the breakfast table I am praying that God would help us figure out a way for Isabella to get into that seat.  I was thinking all morning of what I could do or bribe her with to make a less stressful exit.  I came up with nothing.

Out to the car...Isaiah buckled in...Isabella in the car but not in her seat.  I decided to just get in my seat and start the car.  "Time to go....Izzy get in your seat so you can buckle your seatbelt."  She climbed in (maybe with a little prodding; can't remember) and I helped her buckle up!  This happened three more times today during our outings!  Well, it may not have been completely perfect but no major tantrums.  I did have to change it up a little: once with food and another time with a crazy accent calling her "Ma Lady" (Isaiah thought that one was funny).

Tomorrow could be a completely different day, because what works one day doesn't always work the next.  But for tonight, I am going to enjoy the victory and some day I will be able to add to my list: a child that gets into their carseat without a battle!

CHOP

CHOP.  Children's Hospital of Philadelphia.  That is where we spent our day on Monday.  CHOP's genetic department sees children with the 22q deletion and duplication (Izzy has the duplication) so we wanted to take Izzy to make sure we were on the right track with her health and therapies, etc.  Many children with the deletion have medical issues and the duplication is more puzzling so they like to rule out any health issues.

The thought of driving to Philadelphia with the rush hour traffic was not giving happy thoughts!  So a friend recommended that we take the train.  Woke up at 5:00am, quick got ready, had 2 wide awake kids before 6 and left to take Isaiah to the babysitter.   After dropping him off headed for the train station.  Now I really did not have anxiety about these appointments at CHOP, but I did have some anxiety about the possibilities of my child's behavior on the train and throughout the day.  (We are having some behavioral problems and tantruming with screaming and kicking).   Thankfully, we made it through the train ride with no major meltdowns (Izzy was pretty much the only child on the train and everyone else was either sleeping, working on the computer or on their phones, etc....so you can imagine how quiet it was!).  

Arrived in Philly and then started our 15-20 minute walk to CHOP.  Everything going smoothly until meltdown #1 started.  Our dearest did not want to be in the stroller (or something like that..can't quite remember) and so she started arching her back and crying to get out.  Can't remember if we took her out right away or not but this lead to an all out tantrum and so there in front of the CHOP building on the ledge we set up a "timeout seat".  Now my husband is such a blessing because he has incredible patience with her and once the tantrum was over we continued on our way. 

Our first appointment was with the genetics department at 9:30 am.  (I may be giving too much detail for you to read, but this is also for me so that I can remember what happened, etc.).  Many people were coming in and out talking with us including a genetics fellow doctor,  a doctor in charge of the 22q program and the genetic doctor that is in charge of the genetics department at CHOP.  They asked us many questions about her developmental history, my labor/delivery, and both of our families history.   They took some measurements of the distance between her eyes and looked at her fingers, feet and ears because sometimes they can give a clue about some genetic conditions.  There were no major issues with that.  They told us that she looks "normal" and there is nothing about her physical appearance that would say she has any abnormalities.  At some point in time, Izzy decided she wanted out....and I couldn't blame her...being trapped in that room without any time to run was not fun.  So a wonderful student that was there took her into a nearby room to color with her and play...now we could talk without interruption.

I cannot say we really learned anything new after talking with them.  We had done our research about 22q after her diagnosis in April and unfortunately there really is not much known about it because it has only come about in the last 10 years (not that it wasn't there before).   To put it into perspective,  CHOP has seen over 500 children with the deletion and only about 50 with the duplication.

Izzy saw a developmental pediatrician at CHOP when she was 2 and the doctors only had that to go by until they met her.  They seemed pleased by the progress she has made but they said there is no way to know her maximum potential because the duplication is so variable.  Variable, meaning, some people who have the duplication have no learning disabilities and appear to be completely typical developing.  That being said, there is a chance that Isabella's duplication may having nothing to do with her delays and there is something else causing it.  Despite this, they did not feel any further genetic testing was necessary and they felt we could assume her delays are from the duplication.  Make sense?  Genetics is so complicated but also fascinating at the same time.  

We left that appointment with them wanting us to have her seen by a cardiologist and kidney doc just to check off that she doesn't have any health issues (they like to run the kids with the duplication through the same testing as the deletion since they don't know as much about the dup).   They also wanted us to follow up again with the developmental pediatrician so they can keep tabs on her progress and assist with recommendations about schooling, etc when the time comes.  On to the next appointment.....the pediatrician.  We were 40 minutes early and meltdown #2 occurred!  There is no ability to reason with her at this stage and so it is difficult controlling a child that is making herself as stiff as a board and screaming (yes, picture this in a waiting room)!   They were o.k. with us going down to get lunch first before the appointment so that's what we did.  Ced put her on his shoulders and we walked to the cafeteria.  

Had a decent lunch and back up to the pediatrician.  All of the children with the 22q dup see the pediatrician at CHOP to look for heart murmurs, immune problems or any other medical issues that may arise.  She got an A on that...very healthy!  If I remember correctly he said that if she doesn't have any of these health problems found now then they won't arise when she is older (from the duplication that is).  Had 30 minutes until our next appointment with speech and I have always been concerned that Izzy may be borderline anemic so the pediatrician said they could check her for it and in that 30 minutes she had blood drawn.  Poor girl cried as any child would but once she could pick out a sticker the tears lessened!    

Now we headed to the speech therapy department (phew....last appointment of the day).  Started with her at 1:30pm and she completed a standardized test to evaluate Izzy's level of comprehension and expressive language.  Izzy tested at 2 year, 1 month old for both receptive and expressive language.  I have to admit I was disappointed.  She had been evaluated in April or May and the same test had been done.  Since I saw her performance in both tests I was excited because I could tell she was doing better this time around however she tested at a very similar age both times.  Despite my disappointment, it was fun to watch my husband's expression during the test.  He got so excited whenever she got an answer right and it almost seemed he was holding his breath waiting for her response.  Whenever she got one right he would smile and look at me.....he was a proud dad.  I was proud of her as well!

The day was over and we started our walk back to the train station.  Got some dinner for the way home and boarded the train.  The first part of the train ride went smooth and Izzy was watching some videos on the IPAD that we had downloaded.  Something happened....her video stopped and not sure if that is what caused meltdown #3 or not but we had meltdown #3 on the train.  Thankfully we were in the first seats up front and so there were no seats on front of us.  I had her for awhile and after a time Ced took over and tried to get her to calm down.  He set her on the floor up front and held her there and she had another "timeout".  At home when she goes into timeouts she seems to do better after she gets out of them so hence that is why all the timeouts on the trip.  At some point (it seemed like an eternity) she calmed down and our stop came up so fast that we almost missed getting off.  

Well, that was the day.  It seems that we will be making some more treks to CHOP in the future. 

    

Kid Corner 2

From time to time I like to write about my kids new developments because as time goes on it's easy to forget the specifics about that age.  It's amazing how I live in the moment and have trouble remembering back to when Isabella was a newborn or one year old or when Isaiah was just starting to walk...maybe some people have better memories than me but I tend to forget until I see a picture and can't believe they were that little.

Isabella: 

I cannot say that there has been significant improvements in her cognition and language abilities since the last time I wrote, but there has been some new words and I think her ability to recognize objects, etc has improved even if she can't always say the name or communicate it for us to understand.  

Izzy words (that I have heard her say spontaneously without my prompting her...could be more but this is all that I wrote down so far...this is more for my record than anything):

*Banana                  *Izzy               *Monkey               *Wash

*Drink                     *Isaiah             *Bird                     *Jump

*Eat                         *Mommy         *Duck                   *Sit

*Time to eat             *Daddy           *Horse                   *Deep and wide 

*Juice                       *Nani              *Donkey                *In

*Cheese                    *Poppop         *Hands                   *Put in

*Pizza                       *Grandpa        *Toes                     *Out

*Water                      *Outside          *Nose                    *Open

*Ice cream                *Water table     *Ear                       *Up

*Pretzel                     *Puppy            *Teeth                    *Hold me

*Soda                        *Pig                 *Hair                      *Help me

*Chip                        *Cow               *Toothbrush           *Down 

*Applesauce              *Sheep            *Barrette                 *Cry

*Apple                       *Fish               *Necklace               *Wet

*All done                   *Shoe              *Sock                      *Pants

*Shirt                         *Baby              *Keys                      *IPAD

*Seatbelt                    *Book              *Boat                       *Mitten

*Paper towel              *Net                 *Marker

Her writing ability is still at the scribbling point and she has not chosen a dominant hand yet....I would say 75% of the time she uses her right hand but the other times it is her left.  I do think she has more of an interest in using markers and crayons than she used to so that is good to see. 

After her 3rd concussion with another trip to the ER I said enough is enough!  There has to be a way to strengthen her muscles and her awareness of her surroundings to keep her from falling and hitting her head (of course I know I cannot prevent this 100% of the time, but she cannot afford more trips to the ER like this).  We increased her PT to once a week instead of every other and the PT is focusing a good bit on getting Isabella to be aware of her environment since may times she doesn't pay attention to where she is going and that is why she trips.   Since that last trip to the ER, I have seen improvement....YEAH!!!!!  The parks and playgrounds have been our friend and we having been going there too many times to count over the summer.  There is one playground at a school down the street from us that is for 5-12 year olds (according to the sign) and my kids love it!  There are some tall things to climb and I can't tell you how good this is for Isabella...sometimes I have to hold my breath for fear of her falling (I am there with her) but it forces her to look down at where her next step is.  Going up the climbs is easier than coming down but I do believe that there will be a time where she will be able to climb down these things without my guidance.  Last summer she would not have be able to navigate this type of playground without falling and me being the terrified mother.  I am proud of her!
**I am finishing this post at a later time and just tonight at this playground she was able to hang for a few seconds from a bar....I never used to be able to get her to even grip the bar with me holding her!)

She still has difficulty socializing appropriately with other kids but of course that has to do with her communication and understanding abilities.   I am thankful for the children in her life at church, cousins, etc who accept her, love her and help her.  

Her meltdowns seem to have slowed down and she does listen to simple directions with repetition of the direction at times.   

Isaiah:

It is amazing how different children in the same family can be!  Isaiah is abounding in speech.  He is talking in 5-6 word sentences and I am amazed at what comes out of his mouth.  I cannot believe an almost 2 year old understands what he understands and some of the things that he remembers.  I always thought I should keep a journal of the things children say because it is so cute and innocent and you forget 10 years down the road.   Some of his sayings:

**Mom, where dad go?  Mom, where Uncle Mo go?

**Ma, Maaaa,  MAAAAAAAA!" (when he is trying to get my attention and I am not answering right away

**Frog jump in the water. (from an amusement park show we went to)

**I don't like that 

**I want to get in shower (the kid loves showers)

**I want my blue shirt on!

**I want my socks on

**I want my crocs on

**I want to play IPAD

**I want you hold you (meaning hold me, but he says "you" instead):)

This child is very particular and I am not sure if this is a phase or if this will transform into part of his personality.   He is very particular about what he wants to wear and he is very into wearing socks and what kind of shoes he wants to put on.  If you say no or get the "wrong" one this throws him into a crying fit!  He is constantly talking and always wanting something whether it be a drink or a snack or to go outside, etc.  This is the exhausting part but it is a part of his age!

One particular day, I saw him get his play net (like for catching fish) and he placed a small beach ball in it with help from me.  He then proceeds to raise the net high up in the air and slam it down on the ground to try and get the ball out.  He repeats the process until the ball comes out and then does it all over again.  You can probably imagine that this didn't last too many days because a few days ago I saw the ball all crumpled with a hole in it!

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

I enjoy watching my kids interact....they don't play house together or kitchen or trucks with each other (maybe every so often) but they do like to chase each other.  Now my husband wrestles with them so I was not surprised when one day I see both of them wrestling each other.  Isabella was on top of Isaiah with his struggling to get up.  Once she let go it was a race with Izzy chasing Isaiah (he loves to be chased) and once he slowed down they are both bear hugging each other with one trying to pull the other down.  We are really not a violent family and it was humorous to watch.  I was the referee because I didn't want any injuries, but I did manage to get some of it on video.   

Meltdowns....and many more!

Every child has meltdowns.  At least that is what I call them...the crying, the not listening, the tantrums  and on and on.  Isabella seems to be having more of them (or maybe that is just my perception).  Sometimes I know what precipitates them and other times I do not.  She may start crying; she may go limp and refuse to move so that you are picking her up by her arm and feeling like you are going to pull her arm out; or she may starting running around with no purpose and is hard to control; holding her is not always an option as she wriggles out of your arms.    

When Isaiah (almost 2) has a meltdown, it is not easy but I know that one day he will understand and learn to control his feelings better.  When Isabella has a meltdown something happens inside of me....my body becomes tense, I feel anger sometimes and I feel sadness that my daughter has to act like this because she cannot explain to me her feelings.  Sometimes I want to scream or just sit down and cry.  I am just being honest.   My hope is that she will grow out of this to a degree....but what if she doesn't?  She has such difficulty understanding danger and safety and listening because she doesn't understand what those terms mean and what consequences can happen because of her actions.   As soon as she comes out of her meltdown, my body relaxes and I feel like I can have a somewhat normal life again.  

I think this is my post of honesty today....

Recently I have been feeling distant from the Lord and I know it has to do with my struggles with Isabella.  We are told in Scripture that we will have trials, right?  Wouldn't it be great if we could pick and choose our trials so we could prepare ourselves a little better?  Of course, life doesn't work that way.  My child has difficulty with understanding and communicating in a typical way....but, what about those parents that have to endure losing a child; raising a child who may never walk; having a child with health issues and being in and out of the hospital (the list goes on and on)?  There are people that have to endure so much more than me and yet I pity myself at times....yes, that is wrong, but again this is my honesty post!

In church today there was talk of humans wanting to be in control and not submitting to God (that is in my own words) and the trials and testing of faith that Shadrach, Meshach and Abednego had to endure with the fiery furnace.    Here are my 2 thoughts:  
1. Daniel 3: 17-18: "If we are thrown into the blazing furnace, the God we serve is able to save us from it, and he will rescue us from your hand, O king.  But even if he does not, we want you to know, O king, that we will not serve your gods or worship the image of gold you have set up."  

I believe without a doubt that God can heal Isabella even with a permanent genetic condition.  But, even if he does not (and this is very hard for me to accept...that even if He does not)....I must continue to serve my God and praise His name because He is the one in control.

2. Isaiah 29:16:  "You turn things upside down, as if the potter were thought to be like the clay!  Shall what is formed say to him who formed it, "He did not make me"?  Can the pot say of the potter, "He knows nothing"?

I am the clay and the Lord has formed me and created me.  God is in control....and I pray that He continues to remind me of that.


 

Birthday Fun

We had a birthday party for Izzy Saturday.  Can't believe she is almost 4!  She got to wear her pretty birthday outfit sent from her aunt "Mo Mo"!

This year we actually had a theme....Mickey Mouse!  It is difficult to know what kinds of thing Izzy likes because she can't communicate it to me.  However, she knows who Mickey Mouse is and every time we are in a store she points out the "Mickeys" to me, so Mickey Mouse theme it is!

 After some prompting, we got her to try blowing out the candles.

22q

Have you ever heard of it?  Me neither.....until Isabella was diagnosed with it.  On April 16th we had had an appointment with Isabella's doctor and he wanted us to come in (rather than talk over the phone) to talk about her genetic test results because they were complicated.  That is not what I wanted to hear.   We were told that Isabella was found to have a chromosome 22q11.2 microduplication (meaning a part of one of her 22nd chromosomes was duplicated).  We were given 2 research papers on this topic by her doctor who unfortunately didn't seem to know much about the duplication because they specialize in other areas of genetics.  They told us that the complicated part was the size of her duplication was smaller than the other participants of the studies in the papers.  Because of this, they could not be 100% sure that this is the cause of her developmental delays.  (Now since over a month has passed and I have researched this more, I have read that others have smaller duplications as well).  What we do know is that this happened completely spontaneously because my husband and I were tested and we do not have the duplication (from what I read 70% of the people with the dup have it passed down from a parent and with 30% it happens spontaneously).

Unfortunately, after the time spent researching this I still don't really have a grasp on how she will progress.  This syndrome (not sure what else to call it) is so variable that some people have it and have no symptoms, others have mild symptoms and on down to severe.  Some children have medical issues and others do not.

I have had some time to process all of this and I am relieved that we now have a reason for these global delays.  One day we have no idea what 22q stands for and the next day it is a part of our life.  Knowing this has opened up a whole world of support and connecting with other families with children of the same.  I have found a facebook group designated for families with members with 22q duplication (there are also 22q deletions as well).  Through a website we found out that a few years ago someone started a 22q at the zoo awareness day where people around the world spend a day at a participating zoo and connect with other families in similar situations.  May 19th was the 22q awareness and so we spent the day at the Phillly zoo.  I was able to talk with another mom who has a 6 year old son with 22q dup and also talked briefly with 2 of the coordinators at CHOP where there is a genetic center called "22q and you" that is for children with the deletion or duplication.

I am currently in the process of getting an appointment for Isabella at CHOP.  I am hoping we can get some more questions answered from the experts who are currently researching this.  I don't know that much will change in the course of what we are doing now for her as far as therapies go, however they will be able to direct us from a medical standpoint as to what we should be testing her for.  Apparently she needs her heart, spine and kidneys tested to make sure there are no underlying health concerns.  After talking with the coordinator it sounds like she may be fine with those things because she has had no heart concerns, etc at this point, but I guess we still need to get her tested.

Wanted to share some pictures from our fun day at the zoo!

Izzy holding daddy's hand!
They were giving away toy zebras and Isaiah had to have one in each hand all day!