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! 

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!