As told by Kat

Trip to Maine

// January 18th, 2010 // 2 Comments » // Batten, Boston, Bucket List, John, Julie, Kat, Life, London, Maine, Pictures, Rachel, Vacation

I scooped John and the kids up and took them to Maine for the weekend. We had a great time although I had promised to tray and do some sledding or snow tubing. We met a family of chickens and a herd of alpacas, went swimming and hot tubbing and took the kiddos into a sauna for the first time. We even brought home 3 dozen farm fresh eggs which have already begun the transformation into baked goods.

Here are some of the pictures which I will directly share from facebook (you don’t need a facebook account to see ‘em).

http://www.facebook.com/album.php?aid=374918&id=266424125552

We had THE BEST time! Here is my favorite picture of Rachel from the weekend. Just goes to show that you don’t have to see well to have a fun and full life. Experiences like this are more valuable to Rachel than to a sighted child because of her tactile senses.

I think I think I did a sufficient job at flipping Batten Disease off this weekend. Tomorrow morning we’re going ice skating for an hour. Can’t wait! Gotta get them into a swimming pool more often. They love the water (just like their Momma) and love the hottub (just like their Daddy).

Best Sunday Ever!

// January 3rd, 2010 // 3 Comments » // Boston, John, Julie, Life, London, Rachel

Took the kids sledding in the morning, stood next to the shore in Hull watching the waves crash against the wall. Spent the afternoon taking all 4 children ice skating (RACHEL, TOO!!!). First time on the ice for Julie, London and Boston and they did great! I plan to go back next week with Rachel (and then some) during their free skate because it is supposedly very quiet during the week.

I asked the kids which activity they preferred and London was the only one who liked ice skating the best, the other 3 felt sledding was more fun. Rachel was a little hesitant to go sledding (can’t say that I blame her) but I went down with her the first time and shoved her ass down the hill the second time. After that she couldn’t get enough!

John went sledding for the first time in his life today and is quoted to say “that was fun.” I know he liked it more than that but we’ll take it.

Today rocked! I have a few iphone pics to share tomorrow.

Exhale

// December 30th, 2009 // 4 Comments » // Batten, Boston, Julie, Kat, London, Rachel

Having to explain to my 9 year old daughter who can’t see very well that she can’t learn to ice skate really SUCKED! If only for one winter, I wish that Rachel can ice skate. Please let it be possible.

Earlier today Rachel told me the money she is saving is for a car. I gently reminded her that she can’t drive a car and she said her “person helper” would drive her in it. I told her she should have Julie drive her.

This sucks so hard. A nightmare. I have noticed she is having a harder time identifying her siblings. As of late she would confuse her brothers but now she can’t differentiate between her sister and brothers. She’ll walk into a room looking for me and if I don’t immediately answer her calls of “Mom, Mommy?” she immediately walks out because she can’t see me. Such a good kid that deserves a full life. I guess I better get moving because I don’t have as long as I expected. Its a very painful lesson. I’m currently looking into planning some mini trips for us when the weather warms up, doing things that can be DONE rather than just seen.

Lots of rage today from her. Her emotional filter is apparently on vacation (hopefully not a permanent one). I’m grateful, in some ways, that Julie, London and Boston are so young because they are doing great in the face of our daily life. But its hard because they cannot grasp the concept of her recent blindness and can’t remember to “keep the floor clear” (or she’ll trip and fall or break their stuff out of sheer frustration). Most adults I know can’t grasp the concept of her recent blindness, either. What does that tell you? My little 3 are awesome with her. I’m starting work with having them identify themselves to her but that will take time.

DO NOT TAKE YOUR LIFE FOR GRANTED!!!!!!!!!!!!!!!!!!!!!!!!!

Christmas week

// December 27th, 2009 // 4 Comments » // Batten, Birthday, Boston, Christmas, Food, Julie, Kat, Life, London, Rachel, Valentines

is drawing to a close and I’m up by myself tonight (a special shout out to our cat, Krabs, who is sitting next to me while I type). Christmas was good, we went to my Mom’s for Christmas eve and raced home to put out the reindeer dust, milk, cookies and carrots. Santa brought Rachel the “babydoll” stuff she asked for, PIXOS for Julie, an army tank for London and the Buzz Lightyear “yard” that Boston has been talking about non stop. It was a really nice day and the kids have finally calmed down from all of the excitement.

Today I brought up our Geotrax stuff that has been sitting in the basemenrt for at least a year and the kids played with it for HOURS. For whatever reason we don’t have a complete remote control train for the set (either the RC or the train but not a matched pair) and I looked everywhere. The kids manually pushed the trains for hours and had such a good time. I was going to play with the wii fit tonight but I didn’t have the heart to put away their train stuff. They are such good kids

I am absolutely broken over Rachel and what her disease will mean for her future. It is so unfair and I try not to think about it because I just cry hysterically and it doesn’t do me any good. I’m very good about keeping my emotion hidden, especially when I have to. She made me a box for Christmas at school with her paraprofessional with a little note that she had me read out loud. And here I am sobbing but doing everything I can to not let her hear my voice crack. Her hearing has become quite acute as her vision has been failing and she picks up on things she didn’t used to.

I hate this disease and how powerless she is. There is no fighting what is to come. No treatment. No hope. My child is slowly fading away and is generally unhappy, anxious, unsure and not living a life filled with quality and happiness.

And all I want to do is crawl under a rock and die for every moment that I fuss at her for things out of her control. The natural guilt of motherhood has always been difficult for me but it is borderline suffocating now. Balancing 3 presumably normal children who make a lot of noise and hopefully have very long lives ahead of them while taking good care of Rachel and making sure she has good moments and opportunities in her short life. That balance is absolutely impossible to strike and fills me with incredible guilt.

And while I have this inner symphony of juggling and guilt and batten disease and giving them good childhoods, I put a smile on my face and take them places and cook them dinner and show them how to “whack and unwrap” a chocolate orange and making sure they use the correct “Terry’s” terminology. How do you have a normal life in the face of the disease? I’m not sure of the answer but I do know that I am working my ass off to try and make things normal and wonderful and happy.

The kiddos and I already planning to make edible valentines for all of their classmates instead of the lame box o’ cards.

We’re also planning to learn how to make the PERFECT homemade Carrot cake to celebrate the birthdays of my mom, brother and his girlfriend (in March). Anyone have a good recipe?

Blank

// November 10th, 2009 // 2 Comments » // Boston, John, Julie, Kat, Life, London, Rachel, School, Thanksgiving

Can’t think of anything to write about tonight. I still have a horrible cold / upper respiratory infection that seems to be a “super cold.” I have been having lots of irrational thoughts about never leaving the house again and wearing a face mask to check the mail. Definitely the virus “talking.” Julie thinks I need to wash my hands more.

The kids had microwaved hot dogs with ketchup for dinner. Kind of proves that I feel terrible.

Both Julie and London brought home “manilla turkeys” to decorate and I doubt that our dining room carpet will ever recover from all of the glitter it soaked up tonight. Julie’s turkey is so thick with glitter that I think it needs a custom piece of plywood just to support the weight.

Rachel had a good entrance and exit to school today. We brought Holly (our dog) to school with us and that most certainly lifted her mood and made the transition easier. I think I better bake some cookies for them tomorrow. You can never have a mom who bakes too many cookies, right?

Saturday

// October 24th, 2009 // No Comments » // 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

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:

Wednesday

// October 14th, 2009 // 5 Comments » // 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.

We’re home!

// September 27th, 2009 // 1 Comment » // 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

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?

September 11, 2009

// September 11th, 2009 // 3 Comments » // Batten, Boston, John, Julie, Kat, Life, London

Trash day was friday this week because of the holiday. Forever and always the best day of the week.

Rachel has been battling an uncomfortable itchiness and was sent home from school twice this week and was out on Thursday. Our primary care doc called in a prescription for “difulcan” and I’m hoping we’ve seen the last of this. Not fun for her and it has been interrupting her sleep. We NEED her to sleep. She needs her sleep.

We leave for Disney in a week and the kids are starting to get excited, Julie more than anyone! I am trying to gear them up for the limo, airplane and trip without causing Rachel any unnecessary anxiety. Our new “Neuro-Pharm” Dr aka Psychiatrist has given me some attavan to try in the event that we need it. The first two test runs produced no results but I will try a third time prior to the airplane so I have a trick up my sleeve if she “flips out.”

Julie started Kindergarten and her meltdowns have become frequent again but I am sure things will slow down once she gets back into the swing of things. The bus is so noisy in the morning that she now absolutely refuses to ride it so we have been driving her. She does take the bus home (more seats because the half-day Kindergarten students have already gone home). I think she likes her new teachers and all of her friends.

London started preschool and is enjoying it! That was totally expected because he has the same teacher that Julie had for the last 2 years! Mrs Menice made me smile when she told me that she sees a lot of Julie in London… I guess I never realized that they are so similar. Totally wonderful kid, I am happy that he has the opportunity to go to school!

A professional photographer, aka Lisa Gilbert, had the daunting task of taking our family pictures this past Wednesday. Professional family photographs was a first for our family of 6. Lisa was very nice and energetic and has a great personality, I was really impressed with how well she meshed with our chaos. I would imagine that she can mesh well with every family and that is part of what makes her good at what she does. Once we have some proofs I will be sure to share them here. This is her website: www.lisagilbertphotography.com

1 week until Disney. I hope Mickey is prepared for us. Maybe I should send them our mug shot before we head down there? Ha Ha. Maybe I should just sent a picture of Boston. He wore the “devil ears” during our photo shoot with Lisa, definitely a fitting head piece for him (he rocks!).

This is where we are staying: Give Kids the World. It is this amazing place for children with life threatening illness and is a treasure as much as Disney World is: http://www.gktw.org/

I HATE that we, as a family, are eligible for something like Make A Wish but SO GRATEFUL that these organizations (both M.A.W and G.K.T.W) exist. So, so grateful.

There are many people that I am grateful for. Mrs Petrocelli and Mrs Donato, Mary, my Mom, Ceil at Sunshine Pet for Holly, Amy at BDSRA for the information and Batten Disease DVDs, Lauren at Make A Wish for expediting Rachel’s wish to “beat” the blindness, Pamela in MN for the postcards, Auntie Janelle for the stickers, Ed for the VEGGIES, Xina for organizing the dRaffle, for Lauren and Mommaville for hiring Lisa to photograph my family, Uncle Adrian for coming to stay and being great to our kiddos.

The University of Rochester is having Rachel (and me) come for a clinical rating in October. I had originally planned to drive until I realized that the trip takes about 7 hours so we’ll fly out there instead. U of Rochester pays for the travel and one night in a hotel. I have managed to get Rachel’s appointment on the same day as my new Batten Mom friend (Heather) is bringing in her (also newly diagnosed) son. It will be nice to meet her and observe another JNCL child who is about the same age as Rachel. It is such a rarity to meet another JNCL child and I am grateful for the opportunity to meet him and his Mom.

The week after Disney and the week before University of Rochester we are having a birthday party for the boys turning 3 and 4. I can’t believe the boys are turning 3 and 4! Every occasion is being treated like this is the last one that Rachel will see. Long-term memories will be important down the road so I want to make them as best as they can be.

One day the memories will be all I have left of her. Such an extreme and almost intangible concept to process.

Friday

// September 4th, 2009 // 4 Comments » // Batten, Boston, John, Julie, Kat, Life, London, Rachel

Just a little shout-out to yesterday, Thursday, which is the best day of the week.  Yay for Trash day!

Julie and Rachel are on their buses and off to school.  John sent me a picture this morning to let me know that the convenience store across the street now has a BLOCKBUSTER VIDEO MACHINE inside.  I need to get a bit of work done today so the boys are getting ready to go and rent a movie.  So exciting!  I love when things get easier.

John, Rachel, Julie, London and Boston don’t know this yet but I am taking them to Canobe Lake Park on Sunday.  My Mom is sponsoring the trip and I am looking forward to a good day with them.  :)

Please don’t forget to spread the word about Rachel’s Facebook Page: <click here for Rachel’s Facebook Page>

Have a great long weekend, everyone.  We are going to be closed on Monday and are going to have 2 straight days together!!!  Just about 2 weeks until we go to Disney World and Give Kids the World because of the kindness of Make a Wish and all of those people who fundraise, volunteer and donate money to them!  :)

Normal day

// September 1st, 2009 // 2 Comments » // Batten, Boston, John, Julie, Kat, London, Rachel

Rachel was really normal today.  I know that was partially because I didn’t see her all day but before her first day of school she was pretty good getting ready and after school all the way until bedtime she was pretty manageable.

When your daughter with a rare and fatal disease has a normal day you wonder if the bloodwork somehow got screwed up at the lab.  And then you realize how crazy that sounds and question your sanity.  She has the symptoms.  She is going blind.  She has this disease.

In happier news we are going to Disneyland due to the absolute kindness of Make a Wish!

And… JULIEBEAN starts Kindergarten tomorrow!!

Thursday

// August 27th, 2009 // 1 Comment » // Batten, Boston, Julie, Kat, Life, London, Rachel, School

Best day of the week!

We’ve had a small virus passing through our kidlets starting with Boston and London and yesterday moved to Julie and Rachel.  Fever, lethargy and all gone after a good night of sleep.  Rachel had a headache yesterday and then got a fever and went to bed before 6pm and still (at 715am) has gotten out of bed yet.  Julie fell asleep at 7pm with a newly acquired fever and has been up for at least an hour.   Now I am sitting here wondering if Rachel has had this virus for longer because of her disease?  I made chocolate chip cookies for the kiddos and a pot of tea to try and make her headache go away (caffeine) but she wouldn’t touch any of it.  London was thrilled for the cookies.

Holly is doing well.  Its still a learning experience having a dog.  Knowing how much to feed her and at what times, knowing when to take her to the bathroom.  Seriously like bringing a new baby home from the hospital.

Julie is excited for Mrs Buttkus, who I assure her, DOES NOT kiss butts.  I am sure that her new teacher has heard all of the butt and butt kissing jokes before and has a way to get them to stop.  LOL  I am going to probably cry my eyes out putting her on the bus (which I am not sure I want to do but am going to do anyways because I have to let go a little bit in order to be the best possible Mom to all 4 children).

London is so excited to start preschool.  He is going half days and will have the same preschool teacher that Julie had for the last 2 years,  He is going to LOVE it!

Boston who flipped out for several days about a Buzz Lightyear toy which I finally bought him, has since played with Buzz in the sandbox and then “washed” him when I wasn’t looking.  Guess which newly acquired Buzz Lightyear toy doesn’t work anymore?  So annoyed.  Hopefully we’ll get some sound back because he is, as you guessed, is flipping out again.  I should laugh more about this or he’ll drive me nuts all on his 2-year-old-cuteness own.

Woke up to a fantastically chilly morning today.  Perfect way to start the best day of the week.  Now to get the trash out…

Soccer!

// August 12th, 2009 // No Comments » // Boston, John, Julie, Kat, Life, London, Rachel

I signed Julie and London up for soccer!!! They will start in the fall. I have even offered myself as a coach for the 3 and 4 year olds! Poor Boston is going to be so upset but he is a little too young to start playing.

Today I also called about a sports group in town for kids with special needs. So many special needs activities are visually driven so I am not sure if there is anything that Rachel can participate in. I’m excited to speak with the woman involved regardless of what they have to offer.

Tomorrow John and I go into Childrens Hospital for a little bit of genetic counseling. The likelihood that John is a carrier of JNCL is very small. For those of you who are new to my blog, Rachel is the only product of my first marriage and as this is an autosomal recessive disorder, both biological parents have to be carriers for the child to become affected. The chances are very small that John (the biological father of my other three children and wonderful husband) is a carrier but we definitely want to rule out the possibility.

I am going to volunteer for a short while during Rachel’s last day of Summer School tomorrow. It will be nice to see how she interacts with the other children in her class. I feel really badly that I wasn’t able to make it into volunteer in Julie’s class during summer school. I used to volunteer a lot more than I have been able to recently.