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...