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. 😰

Wednesday, May 3, 2017

summer 2017

Katie only has a few weeks of school left and usually I have a summer program for her to attend but not this year.  I am envisioning a summer of days without showers and make-up for me 😟.  I am going to work on things with her and be a "home-schooler" for the summer.  Ugh!  This does not make me happy. That's probably a terrible thing to say but she loves being with other kids so much she'll probably resent me! lol! We have a few vacations so that will break it up, but I foresee a looooooong summer.

I checked into a few summer camps but the few I thought might work don't have a good ratio of aides to kids, and they go to movies and one has a splash pad - Katie doesn't do well in movies (too loud and she gets scared easy) and needs constant supervision at a splash pad - plus those gross me out and when we go she gets a shower immediately.  I can't believe I see parents at those who are blabbing with their friends and don't watch their children and then the kid is drinking the water out of it. 😣

So, no segue here but on another note, the scientist at Northwestern University who is an expert on her rare mutation applied twice for grants from the NIH and got denied. I think one of the reasons was that Katie is so unique the $250,000 he applied for would only benefit her, for now anyway. Maybe they like to put the money towards helping bigger groups of people. So this just plain sucks. I know he may be able to get grants from other places but a lot of her stuff (like using her skin sample for different experiments) is put on hold for now.  And he is trying to get a mouse with her same mutation but that is not going well either.

She is doing well though. A joy as usual and growing a little bit taller this year. I'm sure it will be a good summer. The pool will probably get a lot of use!  Maybe I'll consider that my shower.







Wednesday, March 22, 2017

11!

Had a birthday party with a bounce house and lots of friends... Katie's aunts and cousins came to visit (my sisters) and it was SO FUN! It's been a crazy few weeks.  Here's a cute picture I took today and I will write more when I get my house and life back in order 😑

Wednesday, February 8, 2017

tub time

Just a funny thing:  I have to give Katie a bath tonight, and I was thinking about how she's pretty good until I comb through the conditioner and rinse it off.  I have found that if I sing to her (and believe me I am no singer) she enjoys it and laughs, most likely at me. Hey, whatever works! The latest song is 50 Ways to Leave Your Lover, and she loves it!  Kudos to Paul Simon.

p.s. My nephew just got accepted to Berklee School of Music (yay!) and they have a class on Paul Simon.  How cool is that?!

Hop off the bus Gus...

Thursday, February 2, 2017

Neurology: Genetics (Journal)

So, this is really fantastic news! Katie is now famous with an article about her mutation in Neurology: Genetics.  🙌 The hope is that her rare mutation will now be known about, and maybe we will find more people with this same mutation. This could lead to more grant money and hopefully more knowledge about this mutation and, well I don't know what else - but all good things!  This has been in the works for a while.  This is a very exciting moment in science and in our household!  🍻     



Here is the link: http://ng.neurology.org/content/3/1/e129.full


Wednesday, January 11, 2017

January

January in Arizona 😎
So here's the kiddo looking like a teenager in her grown up shirt, so darn cute!

We had a great Christmas and she enjoyed opening ALL of our presents!