As told by Kat

Happy Halloween!

// October 31st, 2009 // 1 Comment » // Life // Life

After my post about “dressing up” for Halloween I went bought a cheap cape, witch hat and black lipstick / nail polish. Painted my nails, applied lipstick and was all ready to go out.

Enter Murphy’s Law.

The wind was HOWLING all evening causing the hat to blow away and the cape to be a choke chain. I didn’t make it down our front steps before deciding to take off the hat and cape (leaving me with no costume).

So I figure that there has to be some Murphy’s law about that…

Nevertheless, here are some pictures of my Halloween creatures. Kids had a good time, the boys quit early and Rachel’s vision loss was extremely noticeable. She was a trooper despite being unsteady and unsure of her steps. Julie had a great time. We walked from our house to “F” street and then got a ride home. We have a huge pile of candy and the kids feel so good about this day. Today was lived to its fullest and I am grateful to my brother and parents who helped us enjoy it.

Halloween Eve

// October 30th, 2009 // 4 Comments » // Kat // Kat

I feel like a jerk today even though I’m having a good day and the kiddos are as well.

What if this is the last year that Rachel can see?

I said I was going to dress up for Halloween but over the last two weeks I’ve decided against buying a costume. The kids were really excited that Mommy was going to dress-up. John even has a costume idea (tough biker guy with fake tattoo sleeves). I need to get out tonight and buy a costume. Maybe I will drag my brother with me.

Seriously, people. You only live once. Try and make it count at every turn in the road, at every bump and on every rainy day.

Halloween Eve Eve

// October 29th, 2009 // 6 Comments » // Kat // Kat

Also known as trash day. Must pay respect to the best day of the week.

I have been struggling with something recently, nothing to do with my children and nothing to do with this nightmare of a disease. And nothing (suprise suprise) even to be blamed on John. Actually, John and I are doing well, as well as anyone would in our shoes.

I’m taking a break from TV, from facebook and any distractions in my life that lead me away from tackling something (and no, not my weight) that needs to be tackled. Yes, this is a vague entry but I truthfully feel very uncomfortable talking about it. I’m not a “vague for vague’s sake” kind of person but thats how this has to be.

Keep reading my blog if you’re interested in keeping in touch. Would it kill you to post a comment once in a while?

Tues

// October 27th, 2009 // No Comments » // Batten // Batten

Just got back from a couple hours out with my brother and friend. Still can’t tolerate the heat of a buffalo wing. Maybe I’ll try them again in 15 years.

I was reading a comment on someone’s facebook status update. The comment on the update was along the lines of “God is watching over your son making sure he is okay.”

Um, dude. The child is terminally ill due to a genetic and incurable neuro-degenerative disease. I didn’t even really understand the concept of neuro-degenerative until this summer. Wiki covers the gist of it:

http://en.wikipedia.org/wiki/Neurodegenerative_disease

Saturday

// October 24th, 2009 // No Comments » // Boston, Julie, Kat, London, Rachel // Boston, Julie, Kat, London, Rachel

It is dark and gloomy today but soccer is still on. Julie still won’t play on the team that we sponsored and are coaching. My girl is, at this age, not interested in playing team sports. I prefer solitary fitness activities as well so I can’t say that I blame her.

Boston won’t stop eating the organic banilla yogurt. Gross! At least no one is fighting him for it.

Rachel is, right now, watching Nickelodeon as best as she can. Her blindness is becoming more and more apparent.

London is my cookie monster. Can’t keep fresh baked goods in the house for very long with London Jack around.

I am clearing out my email, ordering pictures via shutterfly and tying up some loose ends. I cannot say enough about having a regularly updated “to do” list, it really makes a difference.

gmail + google calendar + google docs = increased productivity and happiness

I love Google!

Rachel goes back to school on Monday. Her new schedule is M, Tu, W, Th. 8:45 – 11:15. I am excited for the new set-up.

Thursday

// October 22nd, 2009 // 2 Comments » // Batten, Boston, Colorado, Julie, Kat, Life, London, Pictures, Rachel // Batten, Boston, Colorado, Julie, Kat, Life, London, Pictures, Rachel

Another trash day has come and gone.

This was a pretty uneventful week, the kiddos are all healthy (knock on wood) and Rachel went in to school for some OT and Speech therapy which she enjoyed. Next week she is going back to school on a modified schedule that fits in with London and his preschool hours. She hasn’t been going to school since the week of Disney (Make A Wish) trip.

Julie is sitting next to me playing with her new wooden stamp set that I amazoned her as a special treat. The weather is perfect for October and Rachel, London and Boston are playing on our porch, actually on the other side of the window I am sitting next to. Its very nice to see them playing. Rachel is doing some pretend play in their play structure, pretending it is a ship that she is sailing to California with her GPS. Its nice to see her imagination at play. She started a stimulant medication this morning and I’m hoping that we will see some long-term benefit and behavioral improvement. Her vision continues to get worse, which we know to expect, but it still sucks to see. The blind have their own world that I have never been exposed to but I’ve been thrown into the deep end of the pool and am trying to learn quickly.

London and Boston are back to daycare 2 days a week and are staying until 5 so I can get some work done (which is quite busy as of late). Both boys are in preschool (London is where Julie went and Boston is in the little green school across the street from our house) and they are happy. London is going to be Woody and Boston is going to be Buzz Light year. Julie wants to be a “Girl Frankenstein” and Rachel wants to be a “Mummy.” WTH am I going to find a Girl Frankenstein??? The kids are convinced that I *NEED* to be “Jessie” from Toy Story. Looking forward to Halloween (which is also my last day as soccer coach for the season).

A very nice person is taking my girls out tonight for a couple of hours and I am sitting next to three hampers full of clean laundry with no chance I can get it folded before she comes. I guess, on the bright side, is that the laundry is clean.

Most people say “Calgon take me away” but I’d rather think about this:

Cooks Illustrated Soft & Chewy Sugar Cookies

// October 16th, 2009 // No Comments » // Food // Food

2 cups unbleached all-purpose flour (10 ounces), preferably Pillsbury or Gold Medal
1/2 teaspoon baking powder
1/4 teaspoon table salt
16 tablespoons unsalted butter (2 sticks), softened but still firm (60 to 65 degrees)
1 cup granulated sugar (7 ounces)
1/2 cup granulated sugar (3 1/2 ounces), for rolling dough
1 tablespoon light brown sugar
1 large egg
1 1/2 teaspoons vanilla extract

1. Adjust oven racks to upper- and lower-middle positions; heat oven to 375 degrees. Line two large baking sheets with parchment paper. Whisk flour, baking powder, and salt in medium bowl; set aside.

2. In standing mixer fitted with paddle attachment or with hand mixer, beat butter, 1 cup granulated sugar, and brown sugar at medium speed until light and fluffy, about 3 minutes, scraping down sides of bowl with rubber spatula as needed. Add egg and vanilla; beat at medium speed until combined, about 30 seconds. Add dry ingredients and beat at low speed until just combined, about 30 seconds, scraping down bowl as needed.

3. Place sugar for rolling in shallow bowl. Fill medium bowl halfway with cold tap water. Dip hands in water and shake off excess (this will prevent dough from sticking to your hands and ensure that sugar sticks to dough). Roll heaping tablespoon dough into 1 1/2-inch ball between moistened palms; roll ball in sugar, then place on prepared baking sheet. Repeat with remaining dough, moistening hands after forming each ball and spacing balls about 2 inches apart on baking sheet (you should be able to fit 12 cookies on each sheet). Using butter wrapper, butter bottom of drinking glass; dip bottom of glass in remaining sugar and flatten dough balls with bottom of glass until dough is about 3/4 inch thick.

4. Bake until cookies are golden brown around edges and just set and very lightly colored in center, 15 to 18 minutes, reversing position of cookie sheets from front to back and top to bottom halfway through baking time. Cool cookies on baking sheet about 3 minutes; using wide metal spatula, transfer cookies to wire rack and cool to room temperature.

My friend for life

// October 14th, 2009 // 1 Comment » // Batten // Batten

She better start reading my blog, damn it! This is Heather (Mom of Tyler who is 8 with JNCL) that I met during our trip to the University of Rochester Batten Disease Research Center. She is awesome, I love her and I will be a pimple on her nose for the rest of our lives!!!

Me and Heather in NY.

Wednesday

// October 14th, 2009 // 5 Comments » // Boston, Rachel // Boston, Rachel

Went out last night for a couple of drinks with a few friends and had a very good time. I definitely need to do that every week as it is really hard to fall deep into the horrible feelings that come with having a terminally ill child.

I was trying to explain to someone yesterday or the day before that I don’t treat Rachel like she is dying. I still give her a hard time, still throw her on the couch and tickle her until she begs for mercy and I still like to pretend that I forgot her name is Rachel (while I call her Julie). She is a good kid and is upstairs at this very minute babying Holly and playing with Boston in her room.

That boy, Boston, is a heart attack. My heart nearly stopped when I found out I was pregnant with him, and every time he jumps off the couch and especially the time when he took a header into the coffee table. He is wonderful and obnoxious and sure can eat. And more than being best friends with London, he is a therapist to Rachel. He doesn’t run off to be mean because she can’t see, he doesn’t call her stupid or say things like “you don’t even know what a battery is?”. All he wants to do is play with her, be loved by her and team up with her (mainly against me).

Boston Fenway – I am so glad that you are here on this earth.

Village Idol

// October 12th, 2009 // 1 Comment » // Batten, Business, Good Stuff, Humor, John, Julie, Kat, Life, London, Rachel, Vacation // Batten, Business, Good Stuff, Humor, John, Julie, Kat, Life, London, Rachel, Vacation

I signed John up to do Village Idol and took the video (so I could hide behind the camera, I won’t lie). Rachel is hiding in the shadows, John is multitasking with Julie and Boston while London is sitting in the audience with another child’s father. This was during our Make a Wish trip at “Give Kids the World.”

Back from New York

// October 9th, 2009 // 2 Comments » // Batten, Rachel // Batten, Rachel

First of all, Happy Belated THIRD Birthday to Boston and Happy EARLY 4th Birthday to London. My boys are awesome and I feel so lucky to watch them grow into little men, drive me crazy and eat my cookies. Here is to another crazy year, guys!

I took Rachel to the University of Rochester yesterday and today to be seen (and to see) Dr Mink and the Batten Disease Clinical Research team. I was lucky enough to have this short trip planned during the time that Heather and Tyler had planned so not only did we see the Batten Disease Experts but Rachel and I had the HONOR of meeting up with another Batten Disease child (Tyler) and his Mom! Meeting Tyler and Heather was a great experience for me and I feel so lucky to have had that opportunity and tie it in with going to the University of Rochester.

The gist of the meeting with Dr Mink is basically that Rachel is showing mild Batten Disease symptoms for a 9yo (which was AWESOME to hear) and that he feels her inattention (ADHD symptoms) is quite severe which is unusual for Juvenile Batten Disease. It is possible that her ADHD symptoms are actually separate from Batten Disease but regardless he suggests that we try her on a stimulant medication to try and reduce those symptoms. Reducing the ADHD symptoms could drastically improve her quality of life.

I’m all about quality of life!

Here is a link to the Batten Disease Clinical Research Center: http://dbb.urmc.rochester.edu/labs/pearce/bddcrc/index.htm

Hopefully the information that they gained from meeting Rachel and me will help them in their research and help other families that are facing the same disease that we are. Ultimately I (as would all of the other Batten parents) would love a cure and hopefully adding Rachel to the stack of data will get us one step closer.

I remember some years ago

// October 1st, 2009 // 8 Comments » // Life // Life

I was in New Hampshire with Rachel spending the day with my dear friend and her family. One conversation that we had some years ago has been replaying in my mind over and over again but its funny because that conversation wasn’t anything “special” to me or her. As the winds of change seem to be blowing in my life I hear the conversation, I see it in my mind. My friend was talking about her children and the friends she has made with the other kid’s parents. The summary of the conversation was that you seem to make good, long-term friends with the parents of your oldest child’s friends and the subsequent children’s friends parents don’t usually become a big part of your life.

The parents that I became close with through Rachel have all moved on, keeping busy with their 4th graders and their activities. I have this beautiful 5 year old daughter and all of the parents of her friends seem to be taking the place of the friendships I should have through Rachel. I have to make the most of these new friendships and really make an effort because long after Rachel is gone I will have needed to invest in friends and life for Julie and the boys.

Its so sad. So unfair. So ridiculously depressing. I knew something wasn’t “right” with Rachel a long time ago. I just can’t believe it is this. Give me autism, give me an attachment disorder, give me bipolar disorder.

Just not this.

Lisa Gilbert

// September 28th, 2009 // 6 Comments » // Life // Life

Is a very talented photographer who has shared some of the pictures from our photo shoot with her a few weeks ago.

I LOVE them!

http://www.lisagilbertphotography.com/blog/?p=1003

We’re home!

// September 27th, 2009 // 1 Comment » // Batten, Birthday, Boston, Halloween, John, Julie, Kat, Life, London, Rachel // Batten, Birthday, Boston, Halloween, John, Julie, Kat, Life, London, Rachel

We went on our Make A Wish trip to Give Kids the World, Disney, Universal and Seaworld (all down in Florida). I still can’t get over how hot it is down there in the fall! It was stressful because the kids are young and Rachel is clearly not on the correct medication but we definitely had a lot of good moments and took some great pictures! I’m glad that Rachel was able to experience the things that she did while we have usable vision. Who knows how long she will have that for. We have seen another decline in her vision in the past couple of weeks and she is starting to feel things much more rather than look for / at them.

I posted some WONDERFUL pictures of our awesome Make A Wish trip on Rachel’s facebook page, feel free to look! We met Mickey, Minnie, held an alligator, took Rachel on lots of rollercoasters and met some wonderful volunteers and people at Give Kids the World!

http://www.facebook.com/pages/Rachel-von-Tungeln-LIVING-with-Juvenile-Batten-Disease/266424125552?ref=ts

Julie has been having lots of meltdowns that I would expect to see a few years ago. I think part of that is she is tired but certainly another part of it has to do with Rachel and how she flips out and is so demanding to manage and refocus. Julie is definitely attention seeking and it truthfully is not surprising.

Boys are pretty much the same wonderful / obnoxious little guys that they are. London is back to preschool tomorrow and Boston starts back at his 2 mornings a week preschool that he is so excited for! I’m happy for them. Boston was so excited to go to preschool the Thursday before we left for Florida so hopefully he will transition well on Tuesday.

This coming sunday is our double birthday party for the boys turning 3 and 4. Halloween theme! I want to make it really special for all 4 of the kiddos but not make it too huge. I think either way Rachel will be overwhelmed and I might have to have my Mom take her away early depending on how she does. Who knows, she could surprise us all, right?

I was really happy to see that the University of Iowa just published a report on 9/21/09 that they have found a way to get through the blood brain barrier and treat 2 kinds of lysosomal storage diseases (Batten Disease falls under this group). Here is a link to the article on the BDSRA website:

http://www.bdsra.org/docs/research/nm.2025.pdf

I am starting to plan a handful of fundraisers, some of which will take place this year and a few in the spring. I would so love to see some kind of treatment before it is too late for Rachel. We go to the University of Rochester next week.

http://dbb.urmc.rochester.edu/labs/pearce/bddcrc/clinical_eval.htm

This just doesn’t feel like it can possibly be happening.

Cannot

// September 15th, 2009 // 7 Comments » // Batten, Boston, John, Julie, Kat, Life, London, Rachel // Batten, Boston, John, Julie, Kat, Life, London, Rachel

I cannot believe that I didn’t go to Julie’s “Book fair” slot today. The poor kid was there and didn’t have her Mommy show up and didn’t have any money with her. I’m sure I got the notice (twice, once for each girl) but I didn’t flip over the letter to get the book fair class times. I feel like the worst mother ever imaging my little girl alone and penniless. *cry*

I cannot believe that Rachel is dying, slowly losing her vision, her mind and her abilities.

I cannot believe that my Boston is going to be going to his very own preschool program. Nearly 3 years old!

I cannot believe that my London is about to turn 4, is totally potty trained and goes to preschool. Time flies!

I cannot believe that we are going to Disney World in a matter of days.

I cannot believe that I actually drive a minivan and have done so for 5 years.

Sometimes I cannot believe that this is my life, the good and the bad. Yesterday I was a teenager driving an ‘86 For Mustang and today I am a grown-up with some pretty giant responsibilities on my shoulders. How the hell did that happen?