Amazing night

Look at all of the MOVIE STARS in this picture!  OK, maybe you don't see  Justin Timberlake or Ashton Kutcher, but they don't hold a candle to these people. No offense Justin and Ashton, but here is a group of top notch medical professionals that may change the world some day.  Superstars in my eyes, for sure.

This incredible group of people came to our house to observe and interact with Katie.  From left to right: Paul, Me, Katie, Isabelle (TGen Scientist), Keri (TGen Nurse), Dr. Swanson (Northwestern University Scientist), Dr. Guzman (Northwestern University Scientist), Chitra and husband Dr. Narayanan (TGen Neurologist), Sampath (TGen Scientist) , Kavitha (TGen Scientist) and Newell (TGen Clinical Research Coordinator).

To have these people in my home was surreal. Thank God Katie took a decent nap that day and was in a very good mood.  She was bringing them toys, giving lots of hugs, scratching backs... it couldn't have gone much better.  It was nice that they got to see her in her own environment, doing the things she does and acting like herself - imagine a few very loud screeches of happiness and even a quick bit of dancing (by Katie) before they left!

The scientists from Northwestern study kainate receptors and this is an issue with Katie's gene mutation. They came in town to tour TGen, meet the staff and to see us.  I asked Dr. Swanson about the other people who have the mutation and he said no one else has this exact mutation, just Katie as far as anyone knows. These other people who come up when I search the internet for GRIK2 mutations (Glutamate Receptor, Ionotropic, Kainate 2 which is a protein coding gene)  have a deletion or some other issue on this same gene, not a mutation like Katie's. I knew my kid was one of a kind, but jeez!

This was a very casual meeting and I think seeing Katie in action was such a benefit. I was asking Dr. Swanson if he can test the mice (once they are ready to be tested) for things I notice about Katie such as she has never scratched an itch, or if her hair is in her face she will not brush it away, ever. He said yes, he thinks he can.  I will have to make a list of her idiosyncracies and email them to him.  Pretty cool he can test for those things once the mice are ready.

The main thing I took away from this meeting was how much and how fast science is advancing.  I hope that in the future Katie and others can be helped by the new advances science might have to offer.  I'm realistic and not expecting miracles, but still, hope is what keeps us going!

Exciting!

Feeling patriotic today!


I am so excited - we are going to meet with the scientist from Chicago along with our TGen doctors and some of their scientists, soon!  I will write about it after the fact. This is just incredible.

Spinning

Getting old sucks.  I don't think there is any better way to put it.  I am posting this entry because it's been a long time coming and I feel like this is a good time to hold myself accountable.  If I put it out there maybe I will stick to it. I have a sister and a good friend I have known since 4th grade who I know read this blog.  Maybe they can help hold me accountable.  Mindy and Mary I am talking to you...

I always assumed life would get easier when Katie got older, that she would be able to do more things, walk better, talk.  However, in reality it is like I have a ten year-old toddler who I have to watch every second.  She is in diapers and fights when I change her diaper or comb her hair or brush her teeth.  She just gets bigger and I just keep getting older and less fit, my joints hurt sometimes and I guess I can't blame the baby weight any longer.

So I went to a spin class today and really like the instructor and his music - that makes a big difference.  Bad music is the worst in spin class.  I have had good intentions with the gym but in reality, once a week is not doing me any good. I am planning on doing this class more, and yoga and weights, and cutting down on volunteering for a million things at Katie's school and elsewhere.  Too bad I can't cut out laundry and cooking.

  I need to lose about 15 pounds and just want to be in better shape, especially with Katie to take care of.  I think, what if something happened to me, who could do what I do with her?  Or maybe they would do a better job than I do?  Paul is a great dad, but he is no mom.  He works a lot and although I do his data entry (ho hum), right now is not our busy time of the year so I have no excuse to not take care of myself.

I am hoping now that I have posted this, that I will take it more seriously so I can make it to 52 without the aches and pains.  And that I will finally be able to fit into the 70% of the clothes in my closet that haven't seen the light of day in years.

 I will be making a salad tonight... goodbye pizza and cookies, I'll miss you.

Yes!

Not again

Here we are once again with the tongue situation.  Katie has had her tongue hanging out, not constantly- but it's out a lot and I just got an email from the teacher noting this. They worry about her falling and biting it - it's been out about a week.  Doctors don't know why this tends to happen twice a year but my feeling is that it is probably due to the change in weather.  When she is really tired it will be out, usually before bed, it's as if she just loses all of her muscle control in her mouth, weird!

If you have been lucky enough to have been here in AZ. sometime in the last few months - we have had absolutely beautiful weather!  Now, it is getting into the 90's and I think maybe that is affecting Katie. 

 Or, maybe it's a growth spurt -she did eat 3 taquitos, half a chicken breast, a hamburger, broccoli, 2 of those cutie oranges and an apple last night for dinner -no kidding! Crazy little eater... that is not her usual food amount - have you seen my thin little kiddo?!  But she wouldn't eat breakfast today and threw her ham and toast on the floor, nice.  Guess she was still full. 

I always document her tongue issues so I can keep track.  I think it has been over a year so I thought we were out of the woods, damn...


update:  05/10/16 I think this episode is finally over, 3 weeks.

Here she is pre-tongue episode. Cutie! 

Age 10 walking video

If only she would keep her head up!

walking

Luxury

When I think of the word luxury my mind goes right to massages, vacations by the beach with a margarita and good book, a steak and shrimp dinner with a glass of Pinot Noir, a fun martini (anywhere!), a really good dessert, an afternoon nap (oh, so rare).  Sounds like I am a big boozer but I really only enjoy about one or two drinks a week - don't call the federales, please!

I was thinking about a friend today who told me years ago that putting on a new pair of socks everyday would be a great luxury.  I get it - nice comfy new socks that haven't thinned out from washing and have no holes... I totally agree.  I wonder if anyone really does this? If you do please let me know, I want to be your friend!

This got me thinking about Katie and I wonder if she will ever appreciate anything luxurious. Does she know the difference between new socks vs old ones? I don't think so. She doesn't seem to care if she is covered in food or her hair is messy and in her face, I doubt she is into luxury. She is probably too young anyway, although she loves being covered in the soft throw blanket that we all fight over while watching TV. That is probably the closest we will get her to luxury.  She does enjoy baths - until I comb through the conditioner on her hair, and she loves donuts. Always.  I can think of a lot of things she really likes - Freaky Friday and Diary of a Wimpy Kid - great movies that by default,  I can recite almost word for word now.

 Katie's speech is basically the same - not much. I just put her on B12 shots every day rather than every three days to see if we notice any changes, can't hurt. I'd love to read her mind and find out what she is thinking. I'm sure she'd tell me I am overprotective and too stingy with the donuts.  Maybe she would tell me she is into luxury and wants a mini Ferrari or a diamond necklace.


My hope is some day when she is over 21 she will ask for a sip of my Friday night apple martini while we watch Willy Wonka. That would be a luxury for me!

Birthday / TGen Fundraiser

Katie turned 10! I can't believe it's been 10 years... crazy.

 I love this 10 year-old more than anything, and about 9 months ago I contacted TGen and said I wanted to help if they had any fundraisers coming up - because they are who is helping us!  Little did I know that I would be one of the main people orchestrating this event. I am still re-couperating...

A few weeks ago we had our "Roaring for Research" 1920's Soiree that raised over $28,000 in profit! It was so much fun with casino games, food, a live band, silent auction, everyone dressed up - it could not have gone better. I think we had 250 people who attended. Besides raising money, we also raised awareness for TGen's Center for Rare Childhood Disorders and that is awesome.

 Here is the painting Katie painted that was auctioned off with seven others done by TGen kids.  I took this saying off of a shirt she has - seems so appropriate for my girl.

Here are Paul and I and our good friends at the event.

desert living

I love living where you don't need to own a snow shovel. Yes, it's hot in the summer, but I would rather deal with that than blizzard conditions. One thing about Arizona that I don't like is the reptiles, critters, and scary as hell insects!

Our last house had a beautiful desert view. After Paul killed his 5th snake in a year we were out of there. I think we lived there 14 months. We've been married 12 years and we are in our third house. We are always looking to move (in the general area) but Paul keeps thinking he would like a desert view again - and with that comes scary stuff!

Our current neighborhood is in a nice area that doesn't get snakes and scorpions.  Trust me when I tell you I ask all the neighbors about their scorpion visitors before we buy a house. We have been here seven years and I have not seen one scorpion. Whew! None of the neighbors have them either. Believe me I still ask! You can go a mile away and have scorpions.  How would you like to find this in your bed? See!!

Katie was a baby when we lived in the house with the desert view and scorpions and snakes, etc...  I was so worried about her since she was on the floor a lot, and you know, if she's hurt she can't tell me. Not until just recently did she even start pointing to her neck if she has a sore throat - so I was really glad to move out of there. 

When we bought this house we gutted it, added on, remodeled.  I am antsy to do it all over again but Paul keeps looking at "views"! Um, no. Not happening. The last thing I need is to move somewhere and worry about my child getting stung by a scorpion or bit by a snake. Not worth the view. 

This very second, Paul called me into his office and showed me a house in the neighborhood that needs a total remodel, YES! I am pretty sure we won't buy it but at least he is looking and in our hood. 

So for now we will just spruce up our current remodeled house. We painted the whole interior a creamy color recently and that makes me really happy! Like, so happy! We are doing a few other things but I know with Paul it's one thing at a time. I can't wait to get that chandelier out of here! Happy wife, happy life. And safe kid! 

Dentist

We just got back from the dreaded dentist appointment without anyone getting hurt - good day!

Christmas Eve and day were hard - Katie was not in a good mood but at least now I know why.  It seems she does have molars coming in and lucky me it is affecting her the worst on holidays...

Halloween was a nightmare (no pun intended) a constipation and sore throat combo that may have included teeth, and then Christmas Eve I had to put her in her room while I got dinner ready for 16 people because she was head butting and really in a nasty mood - then Christmas Day at her uncle's house was not much better. Come to find out I CAN blame the teeth! Confirmed by the dentist - and it takes a while for them to come in.

Other than having to strap her in the "papoose" at the dentist - basically a strait jacket, she's ok today.

I love the holidays but I am glad they are over this year.  Happy New Year everyone!  I hope it's a good one.

Happiness

Food

If I didn't live near a Patsy Grimaldi's I think I'd have a good friend go get me a pizza and mail it to me. My favorite for sure.

Katie loves food.  So do I except I don't say "mmmmm" every time food is mentioned. I feel bad that she cannot eat pizza with us anymore.  Before her gluten and dairy free diet started a year ago, she loved pizza.  I see they have gluten and dairy free in the stores for $6.99 a pop (geez!), but can it even be good?  I do get her the macaroni even though I have to cover my nose when I am heating it up - but she does like it.  I may have to check out that pizza.

Thanksgiving was good, she ate a lot, and leftovers are always a good thing...

I am still investigating my idea of whether the weather might impact these kids. I have two friends who moved from here (AZ) to Seattle and love it.  I have a much younger cousin who moved from here to Oregon for college and couldn't take the lack of sunshine.  I have another friend who grew up in Oregon and now I believe lives near San Francisco.  These personal stats aren't very helpful.  We're not moving anyway, but she does seem a bit happier in the summer.


p.s. 12/28/15  I found a place in the mall that has gluten free pizza and if I don't put cheese on her side it works! And she LOVED it!  Good thing she likes meat and veggies.  Tasted pretty darn good... thank you Fashion Square Mall!



Here's a recent picture - she let me braid her hair, a first!