Friday, March 23, 2018

Birthday

Katie turned 12, it's going by so fast!

She is doing great and sees the chiropractor every week, which I thinks helps her feel good and in alignment (she cracks a lot!) and seems to be helping her jaw issue that I freaked out about over Christmas break - her bite was way off.  Still not perfect but so much better.  Happy kid!

Thursday, March 1, 2018

February

Where did February go?  Oh yeah, I was sick with a terrible cold and then Katie got sick also, and I think the whole month of February was spent sleeping and coughing and blowing noses!

Nothing worse than being sick and needing to sleep (A LOT!) and then your kid gets sick too.  So hard!  Thank God Paul could help out but he works (a lot) and it was just really rough. Poor Katie had 4 days of not eating anything at all and I was putting my Isagenix shake down her with a syringe.  Thankfully she has her appetite back!

We both went to the doctor and it was just a bad bad cold, no flu but it was horrible. Of course Paul had no flu shot and hasn't had one cough or sniffle, figures!   

So we are pretty much back to normal and I am sure many of you can relate, but having a non-verbal child being sick while you are sick was the worst.  Hoping this never happens again and I may just celebrate being well again tonight 🍷


Thursday, January 11, 2018

Bite

Katie's bite has been off for awhile, like  a year or so.  Around Christmas I was looking at her teeth and noticed that one bottom tooth was turning a little.  I freaked out and started looking up who might see her for this - for her bite being off.  I had already just recently asked her dentist and asked her previous dentist six months ago, and both said there was nothing to do about it. 

Her bite had all of the sudden gotten more extremely "off" than it had been the last year so I started Googling who might be able to help her.  I saw a video of a chiropractor adjusting a kid's jaw so I started looking up pediatric chiropractors and found one who also does neuro-chiropractic services and her office is like a kid's gym, perfect!  

I took Katie to her right away (that day) and she asked if Katie had had a growth spurt recently. Ummm... YEAH!!!!!! Nothing fits the kid!  She said something to the effect of the growth spurt causing this, that if she is not in the right alignment and grows, she uses that bite to feel more balanced and grounded - something like that.  Don't quote me!  I ran this by my physical therapist neighbor and she said that totally made sense. 

So Dr. Kleckner adjusted Katie and man, was she out of alignment!  Bones cracking like crazy!  We have been back since and there is less cracking, which is great, her body is becoming in better alignment.  She also incorporates some neuro stuff which is pretty interesting and even told me that the white lines on Katie's nails means she is low in Zinc.  So I give her liquid zinc and it must taste pretty good cause she sucks it down.  The lines seem to be growing out!  The zinc may help her sensory issues too and how amazing would it be to not have a screaming kid every time I brush her teeth?

  I love this chiropractor! http://www.kidsrising.com/  Check out her website, good info! 

So she did not crack Katie's jaw like the guy in the video I watched, but she thinks her jaw will get better as she is better aligned.  Here is a picture of her bite a few weeks ago, and it is definitely not this bad now. And also her fingernails with the white lines. 




Wednesday, January 10, 2018

winter pic

I have so much to talk about but it might have to wait another day!  In the meantime...

 As long as I have my furry vest on it's all good. 



Wednesday, December 20, 2017

Fundraiser

Update on my fundraiser!  If you haven't seen my video click on this link: http://bit.ly/2BU2ATi  

Almost $10,000 Raised

December 20, 2017
A huge thank you to everyone for your thoughtfulness and generosity during this holiday season! 

Because of you, we have raised nearly $10,000 to support Dr. Swanson’s research. We are hoping to make our goal of $25,000 by the end of the year. Donations are 100% tax deductible, and the gifts go directly to Dr. Swanson’s research to discover how Katie's genetic alteration causes nervous systems to develop in slightly different patterns. He will tackle this difficult challenge in part supported by your generous donations.   

This research has the potential to shed light on this rare gene mutation not only for Katie, but for others as well. Thank you again! 

Happy Holidays,  

The Murphys

Tuesday, December 12, 2017

Mice

Great news!  We have mice!  It took over a year but Dr. Swanson was able to produce a mouse with Katie's same mutation and then breed it, so now he has lots of Katie mice. 

One of the first tests they conducted was to have a normal (wildtype) mouse and a Katie mouse walk along the edge of a cage.  He explains below about the struggles the mutated mouse has which just blows me away!  I can't get over that these mice are actually showing a symptom in movement like Kate has.  So incredible!  See pictures below. 

Also, if you haven't seen my 2 minute video here it is: http://bit.ly/2C78BsP

From Dr. Swanson: 


"Figuring out the cellular and circuit rearrangements that result from rare genetic variants like Katie's is challenging and requires the use of model systems like mice. Mice are by far the most common animal model for human genetic disorders in part because their genome can be modified reliably with powerful editing technology. We introduced into mice the same nucleotide variant that Katie has in her GRIK2 gene. We call the this new strain "GluK2(A657T)" mice. The A and T simply refers to the change in amino acid structure (A/alanine to T/threonine) of the GluK2 protein that results from the GRIK2​ genetic variation. We expect the amino acid change to fundamentally alter the signaling of kainate receptors that contain the GluK2 protein, which are important for early development of the central nervous system.

What were we hoping to see in the GluK2(A657T) mice? Most importantly, we were hoping that the mice would show some of the same behaviors that Katie exhibits. If this occurs, then we say the mouse strain has "face validity" - that is, it actually does model some aspects of the human disorder. We always have to keep in mind that mice are not humans, and mouse brains are not nearly as complex and powerful as human brains. Not all mouse models show face validity for their associated human disorders. Thankfully, many mouse models do recapitulate features of human genetic disorders, which is what in part makes them powerful research tools. We can use behavioral tests to guide us to the parts of the brain that can be most effectively analyzed for changes in nervous system development.

The first set of data we have obtained from the GluK2(A657T) mice suggest that they do indeed have face validity for at least one aspect of Katie's genetic disorder. These pictures show that the GluK2(A657T) mice have a difficult time performing a routine task - walking along the edge of their cage. Walking on the "ledge" requires balance, muscle strength, and control of fine and coarse muscles. The fact that the GluK2(A657T) mice perform poorly on this simple task suggests that they have a motor disorder known as "ataxia" - like Katie.

We are just at the beginning of this analysis but are very encouraged by these data. Our hope and expectation is that the GluK2(A657T) mice will lead us to new insights into the neurodevelopmental basis of Katie's disorder as well as in other children with similar genetic disruptions."






Tuesday, October 31, 2017

Halloween and Video

Happy Halloween!

I've been a bit busy with the following - please check out my video link!

 http://bit.ly/2z1dUsL



making a mummy pumpkin











And a cute video of Katie dressed up! Cowgirl

Wednesday, August 16, 2017

First day of school was last week and my girl is growing up!  Well, she may look tall but in reality she is a shorty for her age, and look at those thin legs!  I am trying to put a few pounds on her since she's weighed 50 pounds for a few years now. And she's a huge eater - I can't believe all the food she eats fits in that body!

Summer was pretty good except Katie was constipated on our trip to Colorado for a family reunion.  She was great for a few days then the last 24 hours was a nightmare and I couldn't wait to get home...😓  I guess constipation can be very painful and I got that notion when she was headbutting and just kind of acting possessed.  I keep a good eye on this with her, but sometimes even when she goes poo, there may be a hard ball inside that is stuck there and then what works is to give her Dulcolax.  That gets it out!  I didn't give it to her at the hotel because it takes 12 hours and is a mess, I thought an enema would do it, but no. Not enough anyway.

  I had to apologize to the college kid sitting in front of us on the flight back for her kicking his seat. It was tough, this may have been Katie's last trip ANYWHERE!

One fun Katie-less trip this summer was Paul and I went to Temecula. CA.  We had a blast, it was his family reunion.  What a beautiful city!  I love it there.

Katie may have a better time staying at home with a sitter than being a world traveler.  At least for now. 

Wednesday, July 26, 2017

Mouse

And.... we have a mouse!

Northwestern was able to get a mouse with Katie's mutation after having difficulties over the past year.

So, the main mama mouse who has the mutation had mouse pups about a week ago and they all have the mutation too - this is fantastic news! The hope is to get a lot of mice and in a few months they will be able to looks at aspects of brain signaling.  Then a few months later, look at behavioral aspects to see if they show any similarities to Katie. And hopefully this will provide some insight into Katie's disorder.

 Mice breed again on the same day they give birth (my internet research says so) and the average litter is 6-8 mice.  One mouse can have 5 to 10 litters a year. Those mice are fanatics!

 I will be speaking with the scientist next week and asking my many questions and should have more specifics to report.


Monday, June 5, 2017

Potty Training

Potty training 😩

Potty training by bribery, silence, then stare down.  That is what works for us.

I have tried bribing Katie with candy for potty training through the years and it has never worked.  But now for some reason a Good & Plenty sighting is working wonders!  Well, maybe that is going too far to say wonders, however we have had more success in the past month where she goes (pee only at this point) within a few minutes if I:

1) ask her who is a big girl (she pats herself) and tell her big girls pee on the potty

2)  show her the candy and I eat one and tell how her how good it is, lol!

3) we have a stare down in silence for about 30 seconds or so and then if we are lucky, she pees.

This is huge for us because I think in the past, she just figures she has always gone in a diaper so why use a toilet.  We have a long way to go with this for sure, but it is a start.  I think the main idea is that she realizes that she should pee (and poo) in the potty.

Changing an 11 year-old's diaper is not a fun thing.  I hope someday we can get this down.  I don't want to be changing a 20 year old's diaper someday. 😰