Weather

Thank God for rubber bands.  Paul and I went to Seattle for a few days and although I saw women with nice hair-dos,  mine was a wavy mess within an hour of blow drying it. We both loved Seattle and enjoyed the gloominess and some rain for four days, however, I most likely will never live there just because of the hair fiasco.  And I don't even have a hair-do. I just had less of one in Seattle.  Actually I love where we live so visiting cloudy cities works.

So many things to do there! We did a lot of stuff, and I must talk about the gum wall in Pike Place Market.  I would post a picture, but my hair, you know!  So this gum wall seemed to be the entrance and exit that we found most convenient for getting to and from the water, ferries etc... This gum wall is a hall of millions of pieces of ABC gum (already been chewed) everywhere. This gum wall might be kind of neat the first time, but after having to walk through it five times I was about to get sick. I may not chew gum for a while.

In the gum wall hall is a little restaurant bar called the Alibi Room where we ended up.  I immediately spotted a jar of rubber bands behind the bar. They must keep them handy for crazy haired people.  Anyway, I would have paid for one at that point but they were free, yes!  Now, I know this all seems to have nothing to do with my blog about Katie but really, it does.  I will segue into that in a bit.

We did see this awesome bus for Seattle's special needs - love it! 

While we loved the change of pace, it sure is a huge change from Arizona and all the sun. It is probably close to 100 degrees as I write this - and I am so ready for winter!  AZ winter that is...

When the weather changes here in Arizona from sunny and hot to cloudy and cooler, it affects Katie. (This is my segue, and yes I did have to look up that spelling).  Katie,  and I know a lot of other kids with special needs - get irritable, and just aren't their usual happy selves when the weather changes.  She gets moody and tired, and just not a happy kid.  So as I am in the wonderful cloudiness of Seattle, I am wondering if the special needs kids and adults (and typical people too, maybe) are affected by it, or maybe they get used to it and adjust to it?  Would they physically feel better in more sunshine? I know people who get headaches when the barometer changes, I wonder if that happens to Katie. Well, I am going to have to look up some info on this subject and get back to you... running out of time and have to go get some sunshine!

mice

Interesting stuff alert! We heard from TGen that this scientist is interested in doing a mouse model on Katie's mutation at some point - hopefully we are talking sooner than later.  In my generic terms: he will get some mice, somehow make them have her same exact mutation - and see what they do.  I am sure there is much more to it, but this is my unscientific BA of Psych explanation.

Will these mice walk like a drunken sailor? Maybe they will drool a little bit and need tiny bibs. Will they sleep with their mouths open and have GI issues?

 I hope they will show some signs of Katie's issues.  I don't know how long it takes to get this started, he might need a grant - but I love that Katie will have some mice who can relate! 

Airplanes

Paul and I recently had a great vacation in Maui. On the flight all I could think of was how hard this long flight would be with Katie.  What I would give to get her to faraway places...  that would be fun.  However, I must say it was really nice to read a book on a flight for once!

Katie on a flight to Denver is not too bad, we only do it once a year though. Much longer than an hour and a half flight might be tough. We could probably go by plane to see some mountain views in San Francisco, or even make it to Portland thanks to this data era of ipads etc... but I really would love to get her to Hawaii or NYC, or Florida.  Probably not happening anytime soon.

 Katie gets a case of CMS (Constant Mental Stimulation) on airplanes, in doctors offices, basically any waiting room.  Ok, I just made up that acronym, but I think you get my idea, yes?  On the plane we go from the iPad to a sticker book to ripping up the flight brochures to looking at the dogs in the dog beds in SkyMall magazine... and over again.  It's exhausting!  I wish I was 30 again I'd have more energy - actually she is pretty good because I keep her busy, but these flights drain me.

If you see an active kid on a plane please be nice, she may be mine - if the mom is covered in stickers then she is definitely mine.     

New wheels

Katie got a wheelchair to be used mainly for distances at school, on field trips etc... We are still working on walking and that is the main goal. She would get tired at school walking to the field to have P.E. so this wheelchair will come in handy. Below is a video of Katie's first time in it.  Amazingly she seemed to know what to do.  She got mad when I took her out of it!


Wheelchair

Skin Sample

Skin sample, done!  Tuesday I took Katie in to TGen to get a skin sample.  It wasn't as bad for her as I expected but she did fight a little bit, mainly because three of us were holding her down.  It was very quick and when we stood her up she went directly to each person in the room and hugged them.  Awww! So cute!  Pretty much at all of the doctor's appointments she is screaming and kicking and even spitting sometimes, crazy!  So it was really nice to have them see that yes, she really is a nice, sweet, hugging kid.

So now we wait. Tick Tok Tick Tok. TGen will grow this skin sample for a few weeks, divide it up and send most of it to Northwestern University, to a scientist who has done a lot of research on mutations on this specific gene.  I am not clear as to what happens once it is there but I think the goal is to see if this mutation does affect Katie or not, and see if there is anything that might help her.  I am hoping this is the goal. Could be a year or so before we hear anything but maybe not.

Where this mutation falls on this gene is very rare, so rare that Katie would be the only know human to have this specific mutation.  Well, Katie and a mouse model named Lurcher. Ha ha, Lurcher!  I love that name! I think this means a group of mice. Here is part of the scientific info I received in an email from the nurse Keri, at TGen regarding all of this:

"To date there are no kainate receptor mutations described in the literature. He feels like Katie’s would be the first and therefore it is quite significant. He says that the amino acid (this is referring to the protein) change that Katie has is very important and has been identified as critical for ionotropic glutamate receptor gating. It was first described in a Nature paper in 1997 as the causative polymorphism in a mouse model known as Lurcher (attached as Zuo 1997). Lurcher mice have ataxia and a quite severe phenotype due to the same mutation, A-T, at the analogous site in a related protein known as the delta2 subunit (Grid2 gene), which is expressed almost exclusively in the cerebellum.  He says it’s clearly an important amino acid that when mutated has a profound impact on receptor function and, apparently, human development and cognitive health.

      He feels that it would be useful to report Katie’s case in some form, and that he might be able to add a little to the story with some analysis of receptor properties.  He feels that the primary point would be getting this information out to the scientific community."

Lots of science jargon, I get the basic idea.  I wish I understood it all very clearly because it fascinates me. Hey, it's my kid!  And I really am no dummy - I actually worked at Mayo as a Cancer Research Coordinator so you'd think I'd be on top of this.  Ahhhhhhh, well a B.A. in Psych is no science degree...

   We saw the geneticist Dr. Pearson recently and she said that if it turns out that this mutation does not affect Katie at all (we'd be back to knowing pretty much nothing) not to worry.  Right now they can only look at about 3% of a person's genes, but in the future (I am thinking 5 or so years) we will be able to look at ALL of them.  So I have hope that if this GRIK2 mutation isn't affecting Katie, we will find out one day what is. Ok I need some coffee, until next time...

    

glutamate receptor, ionotropic, kainate 2

Ok, so Katie does have a mutation or two in the GRIK2 gene! Yay!  I'm so happy!

GRIK2 stands for  glutamate receptor, ionotropic, kainate 2.  I don't know what the 2 is for.  Actually the whole thing is a bit Greek to me but luckily we seem to have found the best doctors on the planet, seriously! The BEST!!!

I must give credit to Dr. Radoff as he is Katie's naturopath and has her on B12 shots which do seem to be helping her with speech somewhat (Mama, Dada, yeah) and her balance is really much better. He is such a wonderful and caring Doctor.  He really wants to help Katie, has helped us immensely and really listens to my input etc... cannot recommend him enough!

We saw Dr. Narayanan at T-Gen a week ago and he says that yes Katie has two mutations on her GRIK2 gene and that they know exactly where one is located and it does not affect her, the other is what they have been having a problem with, identifying exactly where it falls. However, they think this is probably what is affecting her - it is the only gene mutation that showed up on her genome mapping that could affect her. Other mutations showed up but when compared with Paul's and my genome mapping- they are not affecting her. I know that's confusing but that is what science is, right?

Dr. Narayanan's nurse Keri, contacted a Doctor in Chicago who specializes in researching this GRIK2 gene.  Looks like he has written over 100 papers on it and I think this is our guy!  I'm not sure how one decides to become passionate about a particular gene, but are we ever lucky that this man is all about the GRIK2! I am sure he is extremely smart and when I see his picture, he looks like such a nice person. And he is very interested in Katie's case!  YES!

 The next step is to get a skin sample from Katie through T-Gen (oh that will be fun!) I did ask if they could sedate her for it but that is a no. So it will be a screaming and spitting fight! You should see her at the dentist, I come out exhausted and sweating..


So according to Dr. Narayanan they will send the skin sample to this Dr. in Chicago and he will -in layman's terms- turn the cells into neurons and then see what the problem is with the neurons.  Are they taking in too much protein, not enough? At least this is my understanding - I could be wrong.  Maybe this Dr. in Chicago has a different idea. Who knows, maybe they can figure out the problem with these cells and try medications to see if anything can make it all function appropriately.

At the least we have an idea of what is going on with Katie - and I've got hope and that is what matters.  There is hope for our sweet girl!  

GRIK2

A year ago TGen (who had done a gene mapping on Katie) told us they were pretty sure Katie had a certain gene mutation called GRIK2. This is rare and not related to any named disease. It has a lot to do with excitatory neurotransmitters, neurons not firing right etc.. and some stuff that doesn't relate to Katie like seizures, large brain, and mental retardation which maybe scientifically she does have a dose of, but I don't see her that way.  She knows a lot and is pretty darn smart.

 Also, lots of talk about synapses and neurons, etc... this totally makes sense to me because after all we have been through  - Mom's point of view here - I feel that there is just some connection in her brain that is not connecting. Period. That is it! Let's just connect it, dammit! If only it was that easy.

Well, TGen told us a year ago that they were pretty sure of this mutation but needed to confirm it, they weren't 100% sure.  I guess that the machine wasn't spitting out a clear yes or no that she has this mutation adn that if affects her, not sure of all of the specifics - it is science you know! I know it is a very tedious process with a researcher going over the results.  I  don't want to make light of how much effort goes into this gene mapping.  I know it is extremely time consuming and detailed work. So over the year they have tried probably ten times to get this confirmation, running the tests over and over, and still we have no confirmation.  TGen has been wonderful, I know they are doing whatever they can to help us.

So, bottom line is they can't confirm this diagnosis.

So disappointing to be on the cusp of an answer and  possible help - and now I feel we are back to square one. I know it will all work out somehow.  This kid has got to talk someday - I think she's tired of saying, "Mmmmm!" and would most likely be telling me, "Give me another cookie, Mommy!"

    

Katie loving a tilt-a-whirl kid style!

It's been a crazy few weeks but I have a lot to say.  Will be posting sometime this week but had to share this video of Katie yesterday.

Fun times!! 

B12

Through the Naturopath that Katie sees we recently had some genetic testing done through a company called 23andme (anyone can do this test $100, no Dr.  rx needed).  One thing they found that the Dr. suspected was that Katie was deficient in B12. I've since learned that if you are deficient in B12, a pathway in the brain is not working, which can cause all kinds of issues, one being speech.  The best way to deliver this B12 is by a shot in the bottom.  

So here I am today, 20 years after giving up on a nursing degree because the thought of putting a needle into someone about made me pass out - putting a needle into my daughter.  Added to that the fact that my chemistry teacher was from another country, coupled with chemistry itself being out of my realm of understanding, was enough to make me change my major to psychology.  So look at me now! I  am giving my daughter a shot every 3 days - should have gone to nursing school darn it! (I may have a run on sentence in there, don't judge me, I am not an English major.  And I always forget if the period goes inside or outside the parenthesis, sigh.) 

The shot is no big deal, really.  If I can do this anyone can. I rub some lidocaine cream on the area which numbs it, and then 1/2 hour later I give her a shot.  The shot is really small and I believe it is the size of an insulin needle.  Anyway, she doesn't cry, it doesn't hurt - but now she sees me coming with the cream and gets all upset knowing that I am going to poke her next. So last night I did it all while she was asleep, worked perfect and she didn't even wake up! 

This is what I wrote in an email to the Dr. recently about what I have noticed since giving her the B12:

I know side affects are good because it means she is responding.  So far this is what I've seen:

• Hands in mouth a lot the first 2 days (yay!  I know  this is a good thing!) Kids who can talk already and get the B12 say that their mouth and tongue tingle, so this is a very good sign that her mouth is "waking up" and she is actually feeling more in her mouth than she was.  If you know Katie - you know her mouth is usually open somewhat, it's like she doesn't have a lot of control of her mouth.  Now her mouth seems more controlled and less open.  She is not drooling as much either.

• She has said Momma more, usually only says it when she misses me or is scared, but I am actually hearing it a lot!  

• She was looking at my glasses the first few days (on my face) like she'd never seen them before and trying to touch them. (and I wear them a lot, nothing new!)

• Her balance seems even better.

• Her toes are always scrunched up and now  they are not, just relaxed!  

• Getting to sleep at night did not go well the first 3 nights but is fine now. 

• She also just seems more "there and aware", more like a normal kid if that makes sense.  She is definitely more focused than before even her therapists and the school commented on this. 

We will continue with these shots and hopefully see more happenings with Katie. Pretty interesting stuff.   

knee pads

Katie is walking so well (for her) that at school they put a helmet on her and pretty much let her go -on safer surfaces, not on concrete.  Occasionally she will be sporting a small bruise on her knee from falling at school. What can I say... my kid is not the cautious, graceful type.  I never thought of it this way until now but she is basically a loud, lover of wrestling, tomboy who can't get enough pink and Frozen.
    

Katie had about six bruises on one knee recently and it just looked terrible. The teacher she said she sometimes falls on the soft playground and that is what she thought it was from.  They watched her like a hawk for a few days until I got these cool knee pads. They remind me of those old sweatbands people used to wear on their wrists (maybe they still do?) and why am I picturing Will Ferrell?  Oh yes! Just like this!

These knee pads can go right over her knees, tights, or pants, and are very cute! So far this seems to be working and she has no new bruises.  I tell you I don't know what I would do without the internet and Amazon.  www.kneebees.com

What a fashionista!