Guinness

My title "Guinness" is not referring to the beer, but the Book of World Records. Is that even around anymore?  I remember looking at it as a kid and being amazed at the longest fingernails. I must have looked at those for hours. But really, who would grow them that long? Oh my - I guess these people! I just Googled it and here they are. Why would you do this?  Ok, so I totally got derailed here, but why are hers straight and his all curly? I wonder if she combs her hair with them?

Is this creepy or what?!

So we have no fingernails like this in any of my family, but my referring to the Guinness Book is that Katie should be in it! You've never seen anyone rip presents open so fast.  Lightning speed, grabbing presents left and right, hers, mine, Paul's.  So much so that I had a hard time keeping track of who gave who what, and then ended up thanking my Step-Mom for a present my Mom gave Katie. No big deal, at least they all get along. But I am counting this as a milestone.  If you have kids you know exactly what I mean. Hey, 8 years-old and first time she is really excited about Christmas presents - milestone in my book!  

Merry Christmas!

December 2014

High Chair

So the Gluten and casein free diet is going ok.  No noticeable differences yet but I will stick with it (for Katie) for a while. It sure isn't the easiest thing!

However, I did find an awesome feeding chair, whoopie! I have been looking for something for a year or more, and basically just needed a bigger highchair with a plastic tray - which I could not find anywhere.  I went to a second hand store and here it was, staring me in the face, exactly what I needed!  So, if this post can help somebody... here it is, called the HiLow High Chair by AGE Design.  Online they are not cheap about $400.  But it flips from a high chair (left) to a lower chair with a bigger seat and you can still use the tray for each. Katie can't sit too well at a table without a tray to hold her in, so this is working really well for us. Ours is the ugly brown one. Beggars can't be choosers...

Why does this kid have all these apples? 

Gluten / Casein

Oh boy, October was just crazy busy.  We heard from T-Gen yesterday that the doctor is going to sit down with the scientific staff and see if they can get this sequencing issue resolved for Katie. They are trying to get a confirmation of a gene mutation and this is a really important step for us.  But they have tried probably 7 times and are having a hard time with it.  We are going on almost 2 years of waiting and, wow,  I never knew I was this patient of a person.  T-Gen is awesome and I feel honored they are having a meeting about Katie! Well, her gene anyway.

We met a doctor at a wedding last January who sees kids with autism and similar issues.  He was a general doctor for probably 30 years or so and now is a homeopathic doctor.  I was able to talk Paul into going this route - can't hurt! So we saw this Doctor and I really liked him, he does believe in regular medicine but also says there are other things to look at that might be able to help Katie.  So we are currently doing some other tests and I have put her on a gluten and casein free diet. O M G this is not an easy task!  And it is not cheap, everything gluten and casein free is so expensive!  I have been cooking all week so I am exhausted. Hey, we all can't be naturally good cooks!  So anyway, I am not going to go into all the details of how hard this is for me (poor me!) but Paul keeps asking me, "Are these gluten free?" before he eats anything.  And so far everything has turned out to taste not too bad.  Anyone want to come for pancakes?

With Katie we didn't do any testing to see if she needs to be on this diet, but the doc thought it would help her with her constipation issues and we will see if it helps her to focus better.  Gluten can cause "fuzzy brain" and I will see if I notice any changes in her. She was really cranky and tired the first week and my friend told me to make sure she had enough fat in her diet, so now that I know that this week is going better.  I also found donuts that fit so at least at school on Donut Friday in her classroom she won't miss out. I was worried about this, if you know Katie you know she likes her food.

Genie

Where did October go? What a blur of a month. Here is our little Genie!

Tongue, laughing and T-Gen update

Oh that tongue!  I think we are on week four and this morning it was finally in.  She is now at school so who knows when she gets back today  if it's hanging out again.  It has been out but not as far out as in the beginning, 4 weeks ago. So I think that is good news. I took her to an ENT last week and he at least assured me that her tongue was not swollen and that her mouth and ears looked fine.  He was as baffled as I, not good!  He said his best guess, "and  this is only a guess," is that she might have an upper respiratory infection and it is causing her discomfort and her tongue to stick out out.  He suggested using a humidifier, which I have since done, but no real changes.  If and when this happens again I think I'll see what her neurologist has to say.  So weird!

The laughing in her sleep was only those three times so far (recent post). Now I am dealing with some constipation issues (hers not mine!) It is always something... Hopefully back on track tomorrow.

And... T-Gen has tried five times to get a definite read on the rare gene mutation they think she has.Hoping they can figure it out soon.  They are working on it and I think they will have an answer soon, which means by Christmas to me. I need a nap. Or maybe a martini. Cheers!

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!