Little Gifts

Another Christmas has come and gone, this year rather quickly though. Eva definitely got the hang of presents, and wanted more.  She loved the fact that she understood what unwrapping something is, whether it was hers or not.  She just simply loved taking paper off of gifts.  She would even sneak downstairs to the tree and open a gift, bring it upstairs and had the look of accomplishment while saying "mama, mama, pehpeh" and handing me the torn apart paper.  I have to admit, she will not be selected as an honorary member of a recycling club this year but she was sure cute. 
One day before the holiday, there was a whole roll of wrapping paper left out downstairs.  She had retrieved it (by shear determination and her own initiative) and brought it upstairs.  Now, by the time it made it's way to the hallway, the cardboard tubing was on the stairs and she was dragging what was left of the whole roll of paper to the entryway.  Well, what she does next I just couldn't help but record...

Now, I have to reflect back to what I have seen and how I have reacted to her "cuteness".  So,  I know I am expected to be more firm when it comes to this type of activity because if it was one of the other girls...  I just feel that she can accomplish her motor skills, her ability of a "every minute personal goal" and stay so focus on one task.  I mean, for example, Abigail had a rubber glove.  Eva found it and sat in her room for over thirty minutes putting the glove onto her right hand, then finding the thumb, then taking it off and placing it onto her left hand and repeating the process, for thirty minutes.  Her shirt was the only victim with all of the 'focus drooling' done in the process.  I feel that she needs positive reinforcement when it comes to accomplishing her goals but, not when it comes to destroying a whole roll of wrapping paper.  Next year, I will not make it seem so cute. 

Well, it was a great holiday all in all.  We all learned a bit more about Eva and her abilities and how we need to continue encouraging her daily, as always.  She tends to amaze us every day! 

Holiday Cheer

We have been very busy this holiday.  First we started with a visit from Jan.  That was very exciting to see our Colorado Kool mom and friend.  It really amazes me that Eva can be so open with people.  I mean we were invited to Jan's parents house.  She was extremely sociable even with the dog.  No signs of shyness at all. 

We also had a wonderful breakfast with Santa.  Our first Santa visit was short but just long enough.  We had our pictures taken and Eva was again not shy.  She went right up to him and put her arms up into the air for him to pick her up.  One she was there all she could do was stare in awe.  I only wish I could read her mind to see what she was thinking. Maybe she was so intrigued with his beard and it actually touching her and I think if Santa was more well groomed, she wouldn't be so worried about it.
We also have to have our Bowling with Santa.  This is exciting for more the older girls than the younger ones.  But either way, Santa was there again and Eva did a great job getting up onto his lap for more captured moments of time. 
Here is a great opportunity to talk about her improvement in speech.  She is continuously going twice a week for therapy.  She is working on two word sentences, or just two words said together as in bye-bye mama or nie-nie dada.  We are also working on the ending continent sounds like t, ck, or m.  And here is something really exciting, before this accomplishment she has called all of her sisters Abu.  Now, Abigail is Abi while the others are still Abu.  We're definitely making positive progress!
I am not sure if this is an Eva update but it is exciting for our family.  SFKDVS is now officially a tax exempt organization.  This means that we can now start assisting other families after we receive donations and federal/state/ & private funds/grants.  I feel that this will be so rewarding for everyone. 
Here is another accomplishment happening while I am writing this.  Eva is very self occupied whether it is playing with toys, looking at books or focusing on something else.  Right now, she is emptying her backpack that always contains extra clothing for school.  She has put on her jacket, one sock half on up over her toes and the extra pants in pulled up one leg.  Now, she is starting to take it all off.  First the sock, then the pants and finally the jacket.  All is now being placed back into the backpack with the zipper closed.  All of this was done in about five minutes.  Six months ago these motor skills were not there nor were they attempted.  I would assume she received some of these skills from school.  She loves school.  Even when she was out for three days with a bad cold, she was ready to go to school.  Her classmates are very influential and her two teachers are so patient with the children.  These next two weeks with her being off from school I hope will go by fast.  All of our children need their schedule and routines.  I will just have to remember to keep something going on daily.  Happy Holidays!

Hearing Test

On the 29th, Eva went for a hearing test.  This particular test was different from the others because she was seen in the ER department of the Children's Hospital and was put to sleep.  The test was for an auditory brainstem response evaluation (ABR).  I am going to summarize her report.  Eva was under conscious sedation.  A standard tympanogram was completed prior to testing.  Responses from her test is as follows:

Stimulus	Right Ear	Left Ear
500 Hz	30	20
1000 Hz	20	20
2000 Hz	15	20
4000 Hz	35	20

Results conclude that she has a mild hearing loss for the right ear and is recommended that she have a regular hearing test every 6-12 months during her regular ENT appointment times. 

What this means to me: Well, her hearing can be like anything else, it can either get better or worse so we will continue to monitor.  I was concerned with what the term "mild loss" meant.  Defined by the John Tracy Clinic (www.jtc.org) "mild hears most speech sounds from a close distance".

I must share, when she woke up from her unconscious state, she was very irritable.  They best way to describe her was green slime.  She had no physical muscular body control unless she was contained, hence the green slime.  I was happy to take her home and place her in her car seat.  I knew she would be safe in it.  When we were home, I placed her on the floor.  She was very unstable.  She wanted to walk but her feet and legs could not hold her.  She wanted to stand but her arms and hands could not pull her.  It was hysterically scary, If that even makes sense.  I could only laugh at her lack of ability but consciously wondering how long this would last... an hour, two hours, 6 hours, a day, a week?!? 

Well, eventually, it did go away.  But it took a light lunch, a long nap (4.25 hours), physical therapy (which was actually renamed to laugh therapy for everyone), then dinner and finally, after she was up the next morning, she was back to her normal self.  YEA!

Appointments Update

Thursday we had the pleasure to visit with two different specialist.  The first was with the audiologists.  It was just a follow-up to look into the ears to make sure the tubes were in good standing.  They were and away we went.  Our next specialist was our genetic doctor.  This is a required appointment annually.  We spoke with the doctor and his first question was if the letter we received was accurate.  This letter was dated from last November.  The first item I noticed was that Eva is diagnosed with C17q21.31 microdeletion syndrome.  I told him that the name has changed and it seemed that his reaction was shocked.  He didn't seem to be interested in the new name or wanting to hear about the changes and new findings.  I stated that I was going to email him the recently updated Unique pamphlet.  I will be certain to get that to him tonight. 

Caged marble design

I need to realize and rationalize something.  As pointless as these appointments seem to be, our child must continue to see them because of our healthcare system. And because we want to have these appointments in a timely matter and we get annoyed to resubmit all of our personal information, we continue to go when asked.  And of course because as a parent, we want answers to questions only these doctors should know the answers to.    We want our local doctors to have the power, time, and patience to learn about our children.  Our intentions expect that.  Unfortunately, our experience is otherwise.  Our system is just broken.  As a parent, I have expectations from our "specialists".  As a specialists, I expect you to be able to have that magic glass ball and to predict, from his experience, what our children's future may become.  But, as reality hits, I know that science is far more advanced than our healthcare system.  Doctors now do not seem to have the time to research new material if it was not required to attend or read. 
I will continue to educated my specialists.  I will continue to fight for your right to get services.  And,  I will always let the medical professionals know how much you are changing along with your personal accomplishments and triumphs.

Counting more, Not sheep

Eva started school last month and she is beginning to show improvements in such little time so far.  I have also seen some behaviors that are better and of course are worse.  I always try to be an optimist by starting with the good:  She can now use her counting skills and count to whatever number she thinks she is counting to. The video shows her counting, Eva style.  Also, she can show us now if she does not want to do something or want something by shaking her head "no".  This is assume is all learned behavior.  On the other hand, she now can use her bottom lip to cover her entire mouth when she is displeased.  To top it off, she is throwing these tantrums.  Just cries and gets all worked up if she can not get what she wants.  I am curious if this is also learned behavior or just her catching up to her cognitive level.  Either way, we just do not like this new behavior. 

She also received her first cold of the year.  It started last week and was taking accelerated doses of prednisone and a z-pack.  After the second day, her sleeping became irregular. She was waking in the middle of the night, 3-5 times, coming into our room and ultimately getting about 4-5 hours of sleep.  During nap time, which normally she would take at least three hours, have now turned into just an hour or so.   I know that some KdVS children have abnormal sleeping habits.  Is this the beginning of it?  Are we supposed to look forward to these sleepless nights?  Could it just be a side effect from the medicine?  I thought children needed ten hours of sleep.  Even my oldest sleeps ten hours a night.  Not sure where this path will take us but I am hoping this will subside, soon. 

Speech Therapy Battle Overturned

Since last October, Eva has seen a speech therapist outside of First Steps for additional sessions.  In the end of June of this year, her session took a bad turn.  The "off campus" office closed services for the PEDS and were consolidating to their main campus.  We started our new building in July.  Her last appointment was On August 5th.  The office called us and cancelled our next three appointments stating that there are not enough pathologists to see Eva.  So I don't want to go political on the blog but our healthcare system needs to go through a carwash.  Eva was being pushed aside and there was no therapists to replace time lost until I could get new speech evaluations in November and December.  I, being as diligent and convincing as possible, would not have that.
I was on every call list for cancellations in four different offices.  Finally today, I got our evaluation, and it is September. Ha.
Her new therapists name is Brandi and she will be visiting her twice a week, not once, until 12/31/13.  Brandi is very familiar with AAC technology and how to implement her signage, intonation, and previous learning.  Obviously, I really like Brandi. 
One day, Eva will be able to say the word "Perseverance". 

Chapter 5, Sunday

I was in total grill mode.  I went to the store and picked up the usually Sunday meal for the grill, hamburger, hotdogs, store made sides.  Just making it look easy and taste good, not great, but good.  Our guests were arriving, only three families and Dr. Koolen.  We had work to do.  My plan was to enjoy our afternoon and then have a Board Meeting with members of SFKDVS including Dr. Koolen.  We discussed many different topics which seemed extremely beneficial to the Organization.  We actually became lost in our meeting and I was rushing Dr. Koolen out the door to get to the airport. 

It was a very short and sweet goodbye. 

Where do we go next, what have I learned, what was 'the' moment? These internal questions haunted me while the weekend was happening.  While I am writing this, I am realizing the answers. 

I would like to see Eva continue with all the early interventions possible.  I was very impressed with two girls at the Gathering.  I would like to see Eva in their shoes.  

I learned that there are so many families have parallel lives, whether we want to live them or not.  I also learned that these families will be completely opened armed within each other.  We all maybe completely different people and have extremely different personalities but we are all one.

'The' moment I had was on Monday.  I was explaining to my neighbor what an experience I had and how I had planned all of the families to enjoy their C17 families.  That is when that moment happened.  Because this is a passion, it is a profound love that can not be broken, I will always have a deep connection with KDVS, C17, and all the families.  I know that I am a better person because my Eva has KDVS.  I see others differently.  I am more empathetic towards struggling families.  I notice imperfections more on those I don't know.  I want to be able to give more to others that can not obtain for themselves.  I want to make the public known that rare syndromes are out there.  I especially want teachers to realize that not all children have ADD, ADHD, or are just slow.  There are so many children in our world that are misdiagnosed, undiagnosed, or just pushed to the side.  I would like to see those children get the treatment that they deserve.  I would love to see their parents become their voice, their advocate and get them what they rightfully deserve.  But, as for now, without this random runoff thought, I will do what I can for Eva.  I will do what I can for Abigail, Elizabeth, Victoria and Scott.   But my passion will remain the same.  I will continue to fight for all of our children. 
All in all, the Gathering had its minor imperfections but it was amazing.  My family will always remember their special moments of meeting new friends, swimming, being hot, and having a new t-shirt bringing those memories back.  We look forward to our next Gathering, without us hosting :)...

Chapter Four - Gathering Eva, I mean Eve and Day

So it is Friday night and we were getting ready to leave the restaurant.  Scott had left and I was waiting for everyone else to vacate our festivities.  I had asked a family to come over to the house after dinner.  They kindly accepted the offer and I was delighted.  Also, my cousins had come up from Kentucky and were staying with us as well.  I was planning a "private party" so to say on Gathering Eve.  When my brother and I returned to the house, my cousins were there and the kids were swimming.  Life was great.  Everybody in the family seemed to be in such a great mood.  I then started organizing my Gathering Day materials, signage, paperwork, office supplies, drinks, coolers, basically fine tuning.  The door bell rang and it was our New Yorkers.  We went around to the back so that their little one could enjoy the kids as well.  Boy did have a great time!  We talked, laughed, interrupted each other just trying to get every word out.  There was not a silent moment.  It was exhilarating.  Next thing I knew, it was 2am and I had to be "up" in 4 hours.  haha.

The alarms were going off and I woke up bright-eyed and bushy tailed.  Today was the day I had been planning for.  We packed the coolers into the truck and I packed my necessities along with my cousin and we were gone by 730.  I was on a pure C17 adrenaline rush.  When we arrived at the farm, my BIL was awaiting.  We started moving tables, chairs, fan, tent and a bounce house to its respected temporary home.  We finished setting up and it was almost ten o'clock.  I was sweaty, thirsty, and all smiles.  The first family arrived.  Lucas and his family all had on their t-shirts and they looked great.  Then, everything came into place.  People were parking, unpacking, getting comfortable, Dr. Koolen was doing his sessions, Brian was completing interviews, the food and drinks were set, the bounce house was moving at all times and besides the fact that it was really hot, life was great. At 1145 it was picture time.  All families met at the barn and after maybe five minutes,  saying "IT'S HOT" all together, click, click, we were ready to eat.   My volunteers for the food area were awesome! The lined flowed and there was plenty of food for everyone. 
After most everyone was finished, Jan had asked me to get Dr. Koolen's attention to present him with the quilt.  It was amazing and beautiful.  Then she had surprised me with one as well.  I can't say that it was better than his, but since it is mine, I totally will.  It is just a masterpiece.  It has all the children's names on it, all of our family names, just amazing.  

There were so many pictures taken that day, I sort of regret not taking pictures of those that totally deserve recognition. Those would be pictures of my mom and my cousin at the Welcome table, my brother doing his interviewing with individual families all day, my BIL (Mike) and Mary doing anything necessary, especially going to the store, the restaurant, or just parking cars (in the heat), or how about my other cousin that was my ice man, or lets get to the important stuff like the food barn where the Allen's and Uncle Dave made sure everyone was getting exactly what they deserved, a worry free Gathering.  So if I hadn't already exploited you enough or given you the appreciation you most definitely deserve, here is more recognition.  You are wonderful, caring and I appreciate all you did for us that day, THANK YOU!
Time flew by and families were leaving for a long drive home.  Many hugs and tears were exchanged, promises to each other not being their last visits together, children red faced and exhausted in their car seats.  I was cleaning up and it was almost five.  My brother offered a ride to the hotel and off we went.  When we arrived, the Gathering had moved here, into the Holidome, in the pool area.  When Scott arrived with the girls, I was more than ready to get into that pool.  We swam and played with everyone until after midnight.  I can honestly say I just did not want it to end but I know that my family and honestly I was exhausted so we left around one.  That night after we got home, I crashed, hard, but I woke up early enough to get to the store and supply lunch at the house with some families and Dr. Koolen.  We had some work to do...

Chapter Three: Friday

That's right... serious me in charge :)

Eva going down the
slide in PlayScape

 

Friday was finally here and I knew we were going to be busy with a capital B.  I had all of my girls excused from school and we left from home just before eight to head to the hotel.  It seemed that everyone was either in the lobby or eating breakfast.  I was starting to collect money for admissions to the Children's Museum when it seemed that I had a situation in place of "organized chaos".  We left out about five minutes late getting there but all was good.  When we arrived everyone's attention was on Bumblebee, the largest Transformer in Indiana.  I got all the tickets taken care of and released everyone to enjoy the museum.  They played with dinosaurs, went down slides, rode a carrousel, served ice cream, learned about Ryan White and Ruby Bridges, visited Egypt, Looked at beautiful glass sculpture within the middle of the museum, learned about a humongous water clock, made boats, played in water, became a temporary archeologist, ate a pretty decent but expensive lunch, and then did it again.  It was extremely gratifying to see so many C17 kids enjoying every minute.  We left the museum to head home for a much needed nap for Eva and was going to meet up with everyone at Hollyhock Hill for dinner.

Eva and Austin, she did not want to sit
with her mom or dad, just took the
Needham's space :)

She obviously
loves the camera

Scott

We arrived for our six o'clock, dinner.  I walked into the restaurant and Dean met me at the doorway.  He said they were all ready for us.  I looked around at the two adjoining rooms and saw six very long banquet tables and then just up two stairs into another room was two more long tables set.  I was very surprised and asked him if he had to many place settings.  He said "No, you said 105 guests".  Then, it hit me, like a brick.  Looking at all these chairs, folded napkins, shiny flatware, all of these families were here and there were so many!  It was now becoming reality.  I went back outside and took a deep breath and stood there at the entrance, welcoming everyone again.    Fried chicken, green beans, potatoes, salad, cottage cheese, freshly squeezed tomato juice, and of course dessert joined with over one hundred C17 families: Priceless.   After our dinner was just about over, I made a few announcements for tomorrow.  I also introduced UuBee (aka Uncle Brian) to everyone in regards to the survey.  Then somebody (JB) threw in his two sense to give an 'ataboy to me for all the work.  It was surely paying off and will only be the icing on the cake tomorrow, at the largest, 4th Annual, C17 Gathering.
To Be Continued...

Gathering: Chapter Two

Eva and Robert just as focused on
Dr. Koolen as their parents

So we will continue with Thursday afternoon.  I had just picked up Dr. Koolen from the airport and we took him back to the house.  I had asked two different families to come to the house to meet with Dr. Koolen that afternoon for an informal discussion time.  When we all were together, I was noticing that he was so genuine, patient and obviously knowledgeable to any  question that was asked.  His demeanor was so softly spoken yet had everyone's ears of complete undivided attention.  He talked about the differences between KANSL-1 gene, mutations, and deletions.  I found out that children can have only one of these when it comes to a specific diagnosis.  For example, if you have the C17 deletion, you can not also have the KANSL-1 as well.  We all also discussed parental genetic testing.  I was told by our genetic doctor that either Scott or I must be a carrier of this "deformed" gene and that it would be beneficial to do a blood test to see who the carrier was as well as the other girls to make certain for their future family.  We opted not to do the testing and knew that when the girls were old enough to have them be tested.  Dr. Koolen completely trumped that by saying that neither one of us could be a carrier.  It was just a "chance" that this chromosome had the deletion.  He also stated that there is no way possible that the other girls would be a carrier and there is no need to get testing for them.  Here was another wow moment for me that day: It was just before four and the older two were coming into the front door.  Elizabeth entered first.  Dr. Koolen, turned and looked to see who was coming into the door and from his mid-stride genetic sentence he was in stood up, walked toward her, held his hand out and said "Hello Elizabeth, I am Dr. Koolen. It is wonderful to finally meet you in person."  Then Victoria walks in behind her and he also held his hand out and said after she was closed the door, "Victoria, your just as beautiful in person as your are in your pictures, it is so nice to meet you."  Not only did my heart jump a beat but now he had reached my respect for him on a much higher level.  Wow.  Just, Wow.  Our other families left around six and our sitter was here so that we could take Dr. Koolen out for dinner.  He decided on Italian.  Yummy of course. 
Now we're at dinner and I had to just put this out there so I said "OK, enough shop talk, lets just get to know each other".  So, that is what we did.  No medical discussions what so ever.  We learned all about the Netherlands, the size, the culture, the laws of course, more of a compare/contrast between the two countries.  We also found out a little about his family, his hobbies, and of course his favorite is going on holidays.  On thing that sticks with me is that he has never been to Australia.  Maybe one Australian Gathering we could promote it large enough for many families to attend, including Dr. Koolen and his staff.  Dreaming big but it just might happen. 
After dinner we took him to the hotel.  We arrived, walked into the doors and about 30 people from our group was standing in the lobby area.  Some were in awe, others cried, many hugs were exchanged, and finally after introductions and an hour of socializing, Scott and I had to get back to our girls and relieve our sitter.  I know deep down I wanted to stay all night, just get to know so many more families, their children, the siblings.  Find out how parallel our lives really are but, we left, with sore cheeks from laughing and smiling so much and our eyes were completely teared out.  I took the sitter home and went to bed.  Scott and I could not stop talking but we finally gave up.  We had so much adrenaline for what was coming for tomorrow.  Who were we going to meet? How many new families could I introduce to each other? 
To Be Continued...

Much Needed Gathering Post

Well, we survived.  Our Gathering weekend was two weeks ago and I have completely neglected posting updates.  I have to admit, our family was extremely busy in our preparation.  It really started back in February when I volunteered to host.  I signed contracts, talked with many managers, general managers and sales persons.  I made some great decisions with some venues and not the so great with others, but I am human. :) 

Drag Car at DSR

On Wednesday, I had made a special meeting with the Glatt family.  We met  at ORP (O'Reilly Raceway Park).  We were given a "back of the house" tour of the Park, drag strip, and racetrack.  I am someone that lives in one of the biggest racing capitals of the world and I have no interest in cars but the Park was really exciting.  Craig, our tourguide, showed us all the specific details of each track, what everything is, why it is, and where it all happens.  The Mr. Glatt was very excited and Christopher loved the tractor.  It was exhilarating watching their son's excitement.  After we finished our tour, we came to pick up Eva and Abigail and then I surprised everyone with an in house tour of Don Schumacher Racing Team's warehouse.  We arrived and Amy, our tour guide, took us to a behind the scenes of the cars.  There were so many cars of different stages of life there, from just the frames, just engines, the fiberglass cases, a brake shop, mechanic trailers, pink cars, yellow cars, stacks of tires, mufflers hanging from the walls, and so much more in at least 30,000 square feet of space.  It was almost overwhelming.  When we were leaving, there was two drag cars in the lobby that I just overlooked.  It was really something.  We left the warehouse and headed to the hotels.  I had a few more welcome bags to deliver and wanted to make sure the hotels were ready for arrivals.  That night, we met at Stone Creek Dining Company for the early families.  There were eight families that joined us.  It was just amazing to have already eight families!  We chatted, cried, hugged and talked some more, oh and dinner was awesome. 

Eva and Dr. Koolen

Feeling a bit guilty without the girls but,
we had a great time!

Thursday was waterpark day. Scott and I were feeling guilty because we were kid free but we were able to enjoy the other families that were there.  Because the hotel's waterpark was closed, we went to Monon Park.  I have to admit, it was far better than what the hotel could offer.  There was this really cool surf wave.  I sat there watching so many of our Kool Kids surf.  Just amazing!  I left about just after twelve to pick up Dr. Koolen from the airport.  Just before he came through the security gate, I noticed a cute little boy in a stroller that looked familiar.  Sure enough, it was Ox!  I was thrilled to meet the Cooper family and felt like a Gathering welcome crew.  I didn't need to do say much to convince them to wait on Dr. Koolen's arrival so we all waited about 5 minutes and there he was.  He pointed out at me, gave introductions, and went for luggage.  This moment for me was surreal.  It was all happening.  I had a moment and I was loving every minute of it and then knowing that it was only going to get better. 
To be continued...

First day of school

Watch out kids, Eva is now your classmate!  We started our morning with the normal milk and toast and then we walked out of the house to catch the bus and sure enough, just like last year, it was early.  So of course, everyone on the blocked panicked only because the regular elementary bus comes 15 later than the pre-k bus.  When we approached the bus, Eva was in a bit of shock.  She whined and pulled a small tantrum because that big yellow bus was loud, muffley, and humongous.  I finally scooped her up and put her in her seat, a three point harness built into the bus seats.  Abigail on the other hand was buckled in before anybody noticed.


Later in the morning, I received a message from our PT that just so happens works for our school district stating that she loves the gross motor room, go figure.

After a few more updates, she was getting off the bus on her own. After her last big step onto the pavement, she turned around, looked at the driver and the assistant and signed thank you and said bye bye. It was adorable.
Success for yet another Ralph girl starting her long trip on the education highway.

Our trip to St. Louis

What a wonderful trip we made. Our drive was somewhat flawless. Eva was a little uneasy when she was thirsty or even hungry but other than that, it was smooth.

We arrived early at our lunch location and decided to go to a nearby bookstore. My little Eva was so enthusiastic about being in a bookstore that we decided to camp out on the floor for about twenty minutes while she was showing me books.  

We then went across the street to meet Keith for lunch.  After our delicious pizza, I signed paperwork to be filed for the IRS. A huge accomplishment. Then my friend Bob showed up. He seemed very engaged with learning about Eva, her challenges, her success stories, her health issues, everything normal that another Koolen parent would want to know. 

I then went to my cousins house and visited with them for a few hours.  We played a much needed catch up while i was attemping to protect her beautiful home from my rambunctious three year old. Oh and if you haven't noticed Debbie, the chocolate on your couch is from our visit...I tried my best. 



Eva and Aggie

After that, we then met Bob and went to dinner with his family.  I was so excited to meet his very beautiful and gracious family.  Their daughter was to adorable and so much reminded me of Eva when she was younger.  Her facial expressions, her eyes, her shyness around new people. I really loved how real the boys were with her. They don't seem to hold back their energy for anyone. 

All in all, I know that going on our trip had far more meaning to me than just the drive.  My hopes that our relationship will grow even stronger and on a more personal level which obviously shows far more respect than just letters on a screen or a voice over the phone.  

Thank you Bob and Mary for your wonderful hospitality and as I had said many if times in person and in writing, you have such a beautiful family. I can only hope we can spend more time together in the future. 

Dentist Visit

Waiting Room

Eva had her first dental appointment.  It was initially on July 3rd with our regular dentist but she nor they wanted any part of it.  They had recommended her to see a pediatric dentist.  We made our appointment for July 19th. This very kid friendly dentist office actually had a mini basketball court attached to their waiting room.  There was also drawers full of crayons and probably over 50 different coloring pages.  While we were waiting to be called back, everyone was occupied.  Finally after about 15 minutes (the waiting due to my earliness), Eva and I went to our own room while her sisters continued to play. 
In the room, a nurse joined us and asked question about her history, oral hygiene, and other mouth related health issues.  Then the dental hygienist joined her and asked me to hold Eva in my lap facing me while she was sitting close to us with her knees just about touching mine.  She laid Eva down backwards with Eva's head on her lap, placed her index finger in her mouth to keep it open and then


gently used the metal scrubber pick like tool to clean all the plaque off her teeth.  To their surprise, she had very little on the right side.  Then I explained to them that she normally only uses her left side to chew. That process took a whopping 8 minutes and her teeth were clean.  They used some fluoride with a new princess toothbrush and she was finished in less than 12 minutes.  Eva took everything very well.  Her patience gave in after the first 10 but she was tolerable.  They even gave her a squeaky toy frog to chew on, I guess.

Show your clean teeth!

After her teeth were clean, the dentist came in.  He talked tooth shop for a few minutes then wanted to ask me a question.  He was clearly interested in the Koolen Syndrome packet in her file.  I of course gave him general information and after about 15 minutes, he wanted more but realized that it was still early in the day and had other patients to see.  I then invited him to the Gathering.  With his enthusiasm, I am hoping he will represent oral health. 
I felt very comfortable with Eva's new dentist and we made our appointment for January. 

Dora Attack!

Well, Eva survived and I believe really enjoyed her party at home.  We had a Dora adventure party.  I had set up Dora themed stations.  There were six.  There was painting on the fence, ring toss from Swiper, filling water for Boots, hula dancing, dressing up as Diego to find monkeys, and blowing bubbles with friends.  When we went outside to do the stations, Eva could not contain herself.  She was bouncing from area to area saying "dea-ra".  She even grabbed a paint brush and was "painting" the fence.  All went really well for about 25 minutes until it started to completely downpour buckets.  Our fence painting - ruined - our Dora printouts - ruined - all activities - finished.  So, luckily, nobody seemed upset to have cake and ice cream a little earlier than expected. 
When we had the cake, everyone was singing happy birthday and Eva was just looking around, sitting at the table.  Then when everyone said "EVA", she was flapping her hands up and down and gave a cute and happy shout out.  She just knew then that all of our friends & family were here for her. 
When she was eating her cake, she did NOT use her hands but rather a fork and I must say, she was much cleaner than others at the table.  After cake it was present time.  I think the other kiddos here are not as patient as her sisters were while she was in opening progress.  Eva opened all her cards, even the sealed ones, and every gift bag was looked through the mounds of tissue paper.  She had a great time. 
I have to add an emotional side note.  Eva has changed so much since her last birthday.  She has grown to become a loving, busy, empathetic, active, technologist, and a social bee.  She makes us see the world in a more curious way than our other three girls did.  Her mentality has become stronger and is starting to stand up for herself.  Her curiosity and desires to do what she wants to do is much more prominent. Although she is starting to become more aware that play fighting and aggravating between her sisters for fun, she still is empathetic if somebody pushes the limits.   She is just as active as any other toddler.  Her energy level when not focused on a passionate task is squirrel like.  Her new choice of toy would be her iPad.  She can sit down with it and scroll through pages, do games through the applications, look and take pictures.
Eva has grown not just physically but mentally as well.  She has also taught us patience, the willingness to believe that if a goal can be accomplished, it just takes time.  She has taken us on a road that was never expected but now, I wouldn't know what life would be like on the highway.  I love you Peanut!

Peanut is Three!

Father's Day

Driving?  We lost a few minutes of sleep worrying about how Eva would be in the car for more than four hours (18 hours was our longest stretch). As long as we had a video on, juice in her hand, and the iPad fully charged, she was one of our best passengers.  We had a wonderful vacation.  We started in Destin.  Eva was very skeptical on the ocean.  She wanted to sit in our laps and not let the wave crests hit her alone.  She enjoyed playing in the sand, a lot.  The next day we went back to the ocean and she was not hesitant at all.  She would be walking along the edge of the water, fearless of what was hitting her toes.  She would then venture out a few feet and let the waves push her off balance, while laughing of course.  Her demeanor had changed so much since we first arrived that I think she would rather have closer access.  She will just have to wait until our retirement.  
We left Destin and headed to Orlando.  There was this great waterpark with the zero depth entry.  She became very brave and walking out to her shoulders.  We couldn't keep our fish out of the water :).

On Eva's birthday, we were packing from one hotel and going to a cousin's house.  There, we had a birthday cake and enjoyed our family time.  We will be awaiting this weekend for her the Dora Adventure Party.  I am sure she will enjoy it!

Our Family's Favority Season Starts!

Summer has officially started!  First, we were delighted to meet our extended Koolen family member Jan and her Kool Kid Ben.  As you can see, Eva was very fond of Jan and her awesome child ability to make friends quickly.  Ben was very tired and I understood that his entire routine was reversed while visiting family here in Indy.  Either way, it was a wonderful morning and we are in hopes to see each other again.  


Oh the park... What would our life be like without parks.  Eva has a new love of the "big swing".  She can only smile and laugh while 'hitting' me in the legs when I give her big pushes.  I couldn't help but show her true joyful smile and snap a quick shot!

How can the season start without the summer cut?  That's right, even Eva had her locks cut.  All of them were so willing to let Edy cut their hair, Eva just climbed right up and let her snip. 

Finally, the pool.  It was a very warm day with not a cloud in sight.  The blue skies mirrored water.  Everyone was home that day and Scott decided to give Eva her first swim of 2013.  Last summer, she really enjoyed the water and for us to just assume that she would feel the same way, well, assume has two meanings.  The video says it all. 
So tonight, a much warmer day, I let her get into the pool at her own pace.  She eventually went to the third step on her own, with gripping onto my fingers.  When it was time for her bath, she was just a little upset that she could not get back into the pool.  Now I know that instead of just watchful eyes on her around the pool, I need to be a hawk on prey.

Welcomed Warmer Weather

 

 

Check out that height!

I can not believe how fast summer is approaching us.  If we can't play outside for a significant amount of time throughout the day, whether it is taking a walk, going to the trampoline, going to the neighborhood park, or what ever our hearts desires, Eva get emotionally upset.  She cries when we come inside from playing, even if it was two hours of playing!  Our wonderful physical therapist even went on the trampoline with her.  She was so impressed how well Eva can jump on her own but it was so windy, it would literally blow her over. 

We also have officially opened the pool.  It was 78 degrees and we had just finished our different sports practices.  They were begging me to get in.  Obviously, they went swimming regardless on our suggestion that it would be to cold since it was 20 mph winds and only 76 degrees outside.  Needless to say, they lasted an impressive 20 minutes and kept smiles on their faces through their teeth chattering.  Eva had some curiosity with the water.  She was on the first step on her own but refused to release her "death grip" on my index fingers.  She then started going for the second step and seemed surprised by the temperature on her belly.  She didn't last long enough to step back up.  She was definitely done with the second step.  I have a strong feeling that this summer, Eva will be using it almost as much as her sisters.  Bring on the Heat!!! We are ready ;)

We're taking off!

It is official.  We are in the starting processes for a Non for Profit organization!  I can not be any more passionate and extremely excited on the opportunities for all the families affected by Koolen deVries Syndrome.  I am pleased be the responses by families and seeing their support makes my efforts and the other three Board members efforts appreciated.  I am also seeing a pouring amount of volunteer assistance within the organization when it  becomes official.

Again, as I have posted this on facebook and through email, here is the link. 

Supporting Families with Koolen Syndrome

 

IDI update, Open House & Springtime Cold

On Wednesday, we attended an Open House through our Speech Therapist from St. Vincent's.  It was at their main facility which I might say was quite nice.  All of the family was invited to attend and it seems to me that her sisters enjoyed their time more than Eva did.  There was face painting, balloon making, racecar racing, coloring, a great obstacle course, and they even had a therapy dog.  Oh did I forget to mention the raffle, cookies, juice and snacks!  They had invited every family within their network and only about 15 families were there.  They had supplies for at least a hundred.  Needless to say, it was not busy and we were spoiled with favors and snacks.  The kids also got medals for completion for all the rooms.  It was done very well and obviously we had a great time. 
On Friday, we had our quarterly appointment with our IDI.  He looked at the blood work results and was taken back.  At first he asked me how our winter went and I stated that Eva was only sick with a cold once.  He was surprised by that and then informed me that her numbers were much lower that the previous results.  Her IgG was 318 where last visit it was in the 400's. 
http://www.webmd.com/a-to-z-guides/immunoglobulins?page=2
As stated in the above website, it clearly shows that in rare cases, people are born with low counts and their immune system will be affected by it.  He recommended us to return in two months rather than three.  I was good with that. 
Finally, Eva has a bad spring cold.  It has turned into a cough and she is more irritable than usual.  I was very aggressive by seeing our pediatrician quickly due to her visit from the IDI.  Crossing fingers she just keeps the cold and we don't take a turn down a much more serious road. 

Opthalmologists Appointment

On Friday, Eva had her second vision screening.  Her first was when she was 6 months old.  We went because I am concerned with her depth perception.  Our appointment was at Riley's Children's Hospital.  We were scheduled to be there at nine and we were a few minutes early.  We waited to go back into the screening area for about twenty minutes.  When we had our own room, the resident doctor started looking at her eyes.  She was being very cooperative with him and letting him put that tiny flashlight in each eye.  He did not see any significant impairments.  He then stated that the final test is when they can dilate the eyes and wait about thirty minutes, then check them again.  I agreed and we gently forced her eyes to stay open as the drops went in.  She quickly contained her displeasure with a drink and a toy in the waiting area. 

To my entertainment, Eva looked very "different" with her eyes dilated.  I tried to get a picture but you can't really tell. 


After time was up, we were called back again and seen by another resident.  I was starting to think that there were no doctors.  Anyway, she checked Eva's eyes again and stated that she could not see any impairments. I inquired about her depth perception again.  I was asking because when she is walking and the surface of the floor changes textures, she hesitates and side steps forward.  She is also more cautious than normal to sit in her chair.  She usually goes to her side and feels into the chair after finally reaching to her seat.  I explained to the second resident that she has Koolens and that according to the fact sheet 1 in 3 children need glasses. I showed her the information packet and since Eva's picture is in it, she validated my diagnosis.  After she again checked her eyes, she asked me if Eva could wear 3-D glasses and be able to tell when colors or pictures look different.  Well, obviously I chuckled and said that it may be next year when she can do that.  I said her vocabulary was limited.  She advised me to have another examination next year.  So, we will continue to be proactive but until then, she will be glasses free. 

Toddler Days

I have been making some significant changes to Eva’s routine.  I feel that her development is becoming more remote to children her age.  She is starting to get out of the baby stage and having her own personality.  So, I figured if she was changing, so should her environment.  Plus, she will be going to school starting in August so I mentally need to be prepared for that as well. 

This week was busy, well busier than usual.  We decided to give Eva her big girl bed.  That’s right, no more crib.  She can now at her leisure get in and out of bed and having experience with this is always challenging and rewarding.  When she saw the finished product, all she could say was “Elmo” (which is the same word for Nemo and Elmo).  I only assumed that she liked her new room and after two days of work, I really like it too. 

 

So a few more things that Eva can do now – She can open her door and while she tries continuously, she repeats “ah-pah” until she is successful.  She also says that when the doorbell rings and when she wants to go outside and play, even if it is raining.  She can also let me know when she wants her diaper changed by coming up to me and making the sound like she is clearing her throat that she is stinky.  She can now jump with both feet off of the ground.  I know physical therapy initiated that but the trampoline, her bed and pillows help with that process all the time. 

We also went to the museum this week.  Eva is almost in a trance like state on the carrousel. I am recommended to go at least twice and of course after the second ride, she gives the more sign and her discouraging whimper/whine when rejected.  But as always, she gets over it very quickly with any distracted measure. 

 

 

 

Laundry Triumph

The video says it all.