Up all night

School started a week ago and Katie has missed three days so far.  We have two separate issues going on, the first being the tongue issue again. Noooooooooooo!

Last week her tongue started hanging out (this happens about twice a year and we don't know why) and she was just not herself: tired, balance way off, not eating much...  it happened to coincide with me not feeling well also.  I went to the doctor Wednesday and of course it's allergies for me, so I get better within days, thank you predisone and Z-pak, I love you!  I asked my doctor about Katie since no one can ever figure out why this tongue thing happens, and he says yes, it could be allergies and to give her a Zyrtec and see if that helps. So I do and she seems much better, tongue not out so much and I think we have solved this problem! Yippeee! Well, the tongue comes back out but not as often, but she feels better and is more herself. I was so excited to report that we have figured this out, but now I am not sure what to think. Still giving her Children's Zyrtec (sigh).

Onto the next issue.  If I was you then I would think that this mommy of Katie might have lost some of her marbles.  I am telling the truth when I say that our next issue has happened three times this past week, and I don't know what to do.  Because of it Katie is sleeping right now (9:30 am) when she should be at school having fun. I think the real problem might be that she is having too much fun at school.  I am blaming the school for this!  

So, three times this week this has happened. Katie goes to bed and then around 11 pm she starts laughing in her sleep.  I am NOT making this up.  If my husband was a blogger he would tell you how sleep deprived he is from his comical kid. She literally is fast asleep belly-laughing! Big loud laughs like she is watching a comedy, it's nuts! I assume she is remembering what a fun day she had and laughing it up. I go in there and wake her up and then she falls back to sleep and it starts up again.  This lasts for hours and I don't know what to do.  I know there are worse problems to deal with but holy moly, we are so tired the next day.

Poor hubby had to get up at 4:30 to drive four hours this morning and four hours back for work.  I am hoping this child gets up soon so I can take her to school for a few hours.  I'm thinking that's not going to be the case.  I bet she sleeps for another hour at least and then I will be entertaining her for the rest of the day.

It is now 2 pm and my girlie is still snoozing away.  I think I'll get her up so she goes to bed tonight!               

patience

I believe somebody upstairs thought that a little bit of patience needed to be tested out on someone down here and that lucky person is ME! (that was sarcasm).  Actually, I guess I am lucky.  Lucky that there is a bit of hope for Katie even if it comes with having to have a whole lotta patience!

So, in March the doctor at T-Gen reported that he thinks the researchers have found a gene mutation in Katie. Now, they are re-testing to make sure. Here is the info I received in an email:

He's been running into some problems sequencing the gene.  He has run the assay twice and the data has still been poor quality.  This can happen if the DNA sequence length is long, or based on the nucleotide pattern.  The quality of Katie's DNA is good.  He's talked with another Dr. in the lab on how to troubleshoot the problems and they're working on it.

I will wait.

I will be patient.

I will have hope and assume the best will happen for Katie.

And I will not bug T-Gen more than every three months.

So here is the cool part.  If she does have this specific mutation (which is rare), T-Gen will take some of her skin cells and grow them into these particular cells that are not functioning properly (I am picturing a petri dish) - Oh yeah, I forgot to mention that if she has this mutation, then some of her cells (neurons I think but don't quote me on that) are not functioning properly. Then they can see (via petri dish I am assuming) what the actual problem is with these cells, and THEN they can try different medicines to see if there is any way to help these cells to work right!  Is that not the coolest thing, ever?!

I love everything about T-Gen and what they do.  These people are the nicest most caring people you will find.  Paul and I took a tour of the lab last week and, man, was it interesting!  They have five machines that sequence the DNA for like a month, and each machine costs about a million dollars and has a life span of about 3 years. Crazy! In March, Katie's neurologist Dr. Narayanan who heads up this study for kids with no diagnosis, and his nurse, Keri explained Katie's current results to us.  They are the type of people you'd like to have over for dinner. Well, in my case take-out would probably go over a little better - but seriously these are great folks!

So this is as much as I know.  I know they are working on Katie's results and I hope we find out soon that she does have this mutation.  Then there is a good reason to hope that maybe they can help her. No one knows for sure. And if not, we are so very lucky to have this funny and wonderful girl in our lives! Either way we win! 

Easter

Katie had a fun Easter chasing her cousins around and seeing Grandpa and Grandma.  She enjoyed finding the eggs in the yard and noticed her Easter basket as soon as she woke up and came into the family room.  If there is candy around, she will find it!  I don't let her have much candy - I am sure Paul and I will enjoy most of her Easter basket, which we don't need either!  The dentist is amazed at how good her teeth are and said that he could tell that she doesn't eat a lot of sweets.  Oh, she gets her share!  One time at a birthday party  we were running late, so I just took her without lunch ( expecting pizza or some kind of food) and there were only sweets, and lots of them! She had WAY too many. I paid the price for it with a very cranky child.  So I try to avoid that, cranky Katie is not much fun. But here she is, sweet as ever.     

Cute pic

This captures Katie's personality!

DNA

We got news that the doctors are pretty sure they found a mutated gene that could be part of Katie's issues.  However, they are not 100% sure.  T-Gen is going to double-check and get back to us asap, which means in a few months. We hope this is the case because there is a chance they may be able to help Katie.  Not wanting to get all excited and then be disappointed, but we are hopeful!  Will reveal all the details when we know them. Fingers-crossed!

Tongue issue again

Here is Katie looking a bit dapper, I like this picture. She really should be on a runway.  We have had the tongue incident again, this time for about a week so far. It just sticks out. All day. I think she might be at the end of it, but still have no idea why.  This has happened before (3 times) and I see I have noted it in my blog.  We go to the doctor today so he can tell us he has no idea why, ha ha! I thought maybe it was due to allergies so I bought some kids allergy medicine, but no luck. Tongue still out.  Last time I wrote that maybe it was due to a growth spurt - she has grown so much in the last year - I really don't want it to be that. Longer legs means a longer fall to the floor.  

Update:  it was 3 weeks of the tongue out and of course the Dr. had no idea why!

Saying

Ok, so I am over feeling sorry for myself now.  Here is a saying, or blurb, or whatever you want to call it that I found and put on Katie's picture.  I just love this saying!  I can tell this picture was about a year ago before Katie got her front teeth in.

I do believe she will talk one day - she has been sick for a week and I think - because she is feeling a little needy - she has been saying, "Mama" a lot, and I mean a lot!  I LOVE it!  Paul's jealous...

Ups and Downs

Below is a link to a story about a friend of mine.  You may have heard this story regarding Kelli Stapleton and her daughter, Issy.  Issy has autism and is violent.  Kelli - like so many parents, did everything she could to help her.  I won't go into detail - you can read the story -  and of course I don't condone what she did, I think she was at the end of her rope with trying to get her daughter help through the state and not getting what she needed, and she just hit bottom.

Kelli and Issy Stapleton Story

Kelli has a blog about life with Issy: The Status Woe

I write about Katie and post all these happy, cute pictures of her, and usually she IS happy and of course always cute!   But I don't write so much about the times that are not so wonderful.  I think it may be human nature just to look on the bright side and brush off the bad times, not wanting to bother people with all your woes... and maybe that is why my friend Kelli got to her low point.  

I got head-butted last week (it happens occasionally but usually I can move out of the way) and just burst into tears because my nose hurt so bad.  Thank God it wasn't broken but man, it hurt like hell!  Katie doesn't mean to do it - I know that.  It seems to be some kind of uncontrolled action, like she doesn't have great control over her body movements.   She is either mad or excited, and her body just lets loose and she ends up flinging her head around or kicking her legs and hurting someone, usually Mommy! Well, this is my theory anyway, since no one else really has one.

 Another example: recently at the eye doctor when I was holding her legs and arms as tight as I could and as he came at her with the light, she went bananas.  Even though I told him we needed someone else to help hold her down, "Oh I think we'll be ok," he said.  I left with a fat, cut lip bleeding like crazy, head-butted again, this time in the lip.

I can understand Kelli's heart-breaking story and maybe where she went off the deep end and lost it, not saying what she did was the answer of course, I don't think anyone would think that taking out yourself and your child is the answer. Ever.  But to know her story is one that is sad and scary.  Issy is a violent teenager with autism who has put Kelli in the hospital more than once with brain injuries, and also put others in jeopardy.  Just what is the right way to deal with a violent child with autism who most likely doesn't understand what she is doing?  I can't even imagine.  I have nothing like this at all to deal with, and although Katie is not a violent kid (just an occasional head-butt or kick) it is not easy having a have a child with any kind of disability.

Lots of times I think:

 If Katie could talk my life and her life would be SO much easier!

 If Katie wasn't still in diapers and constantly constipated...

 If Katie could get herself into her car seat herself...

If Katie could sit in a regular chair at the table...

 If Katie could... it goes on and on.

We worry about who will take care of her when we are gone, meaning dead. We have short vacations covered.  Of course we do have plans for this just in case, but will someone else do what I do for her? I had Katie at age 41 and she is almost 8, you do the math.  (I hate math).

 Will she ever talk?  Will her balance get better?  Is she going to fall and break a bone or knock out teeth?  I worry that I might die of some terrible disease - then what? What if I get early Alzheimer's or hit by a truck? I have stepped up my exercise (spin class anyone?) and vitamin intake and am trying to eat better - maybe that baby weight will come off one of these days!  But who is going to take care of her like I do?  Is someone else going to search the internet hoping for some clue and maybe help for her issues?

 Paul is a great dad - he is the "fun" one.  He makes crazy faces and wrestles with her on the floor, comes at her like a zombie - she loves it. I am fun too, but I also am the one to brush her teeth, take her to the doctor's appointments (not fun at all), brush her hair, give her medicine - and lots of these I have to pin her down on the floor and sing to try to make it fun.  And me singing is not fun.  Paul singing is just scary, or hilarious depending on how you look at it.  Paul is somewhat of a workaholic (I mean that in a very good way) so I do most of the not so fun stuff with Katie.  And thank God he is so that I can be here for her when she gets home from school, etc...

I am sure a lot of people think I have it easy because I live in a nice house and don't work, and, yes I do have a pretty good life. Although I do do Paul's data entry - mindless work however it needs to be done by somebody, right?   That's work! But I would give it all up and live in a shack made of sticks without running water if it would help Katie.  I would trade that in an instant.  

It's just hard, you know?  You never think your child will be the one with issues. A child who can't tell you they love you, that just sucks.  And although I never feel sorry for myself because Katie is a wonderful and loving kid 99% of the time, who does tell me with hugs and slobbery kisses that she loves me, I worry a lot about her future.  My goal is to make the Guinness Book and  live to be 140 so I can make sure she is ok, Katie will be 99 at that point.  Maybe I'll start adding in more exercise.  Prancercising - I could do that!  Lol!  

No word yet

No news on the DNA study yet.  I called a day before Christmas and they said it would be sometime after Christmas (really?!).  So if that is January, March, or 2017 - I have no clue.  We were just about the very first ones to have blood drawn on Dec.1st a year ago, and will be about the last to get our results.  Kind of like me at the grocery store - if you see me in line, Go! Fast! to another checker - because I ALWAYS am stuck behind the old lady who has to dig through her purse for 10 minutes and then write a check, or the much too talkative cashier who rants on and on to the person in front of me... Murphy's Law really takes me literally.

 Not much else going on.  Just a cute pic of Katie (during the Polar Vortex!) when she took a break from chasing her friend around the park (previous post).

Chasing Camille

We went to the park yesterday and ran into a friend Katie has known for 5 years, Camille. Katie chased Camille around for about 45 minutes.  It was just pure happiness - she had so much fun!     
At the park