As told by Kat

Julie’s 6th Birthday

// March 30th, 2010 // 11 Comments » // Birthday, Boston, Good Stuff, John, Kat, Pictures, Rachel

We had the best time. Can’t believe Bean is 6!

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.

Santa Claus!

// December 13th, 2009 // 5 Comments » // Christmas, Good Stuff, John, Julie, Kat, Life, London, Rachel, Winter

Our kiddos had their picture taken with Santa near the Paragon Park Carousel.

Rachel, Julie, London and Boston with Santa
santa

Rachel on the Christmas Carousel Horse
santa1

No Batten Disease in these pictures!

Rachel and John read the news

// November 30th, 2009 // 4 Comments » // John, Kat, Life, Rachel, Youtube

I need to read the manual on my camera, my goodness! Sorry for the crappy quality.

Feel free to subscribe to my youtube, I have more videos to add.

http://www.youtube.com/mrskatvon

Happy 6th Anniversary

// November 15th, 2009 // 9 Comments » // John, Kat

John and I were married 6 years ago today. I can’t imagine stuffing any more stuff into the time we have been together (8 years). If you had told me that this guy (John) on yahoo personals was the one I was going to marry, have 3 more kids with and everything else that has happened, I would have died laughing (and crying). Life is full of surprises.

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?

Village Idol

// October 12th, 2009 // 1 Comment » // 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.”

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!!

Julie and Julia

// August 18th, 2009 // 2 Comments » // John, Kat

Went to the movies with Andrea and my Mom. Movie was slow but the meat of the movie was good. I think John would have liked it. He definitely would spent a ridiculous amount of money at the grocery store the day after watching it, bringing home cheese that I have never heard of and Julie might describe as “gross.” He wants to get into cooking more now that we have basically stopped all service calls and I think that would be good for everyone in our little family of 6. I need to be more receptive to his cooking conversations.

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.

To Rachel

// August 11th, 2009 // 3 Comments » // John, Rachel

John wrote this on Rachel’s wall today. I wanted to save it on my blog as facebook isn’t guaranteed to save everything for forever.

My beautiful girl. I wish I could tell you what I think. I wish you could understand. I wish I could take this from you. You have brought me to the greatest place in my life. The idea that you will suffer until you die is unfathomable. When you… get mad at me I know it isn’t you. When you scream and such I know it isn’t you. That is when we talk to the disease directly. When this is over I promise to remember you not the disease.

Fridayx

// August 7th, 2009 // 5 Comments » // John, Kat, Life

Are there any good songs about Friday? I know that Saturday has a couple.

Julie, London and Boston are with me playing on the Smart Cycle that we have had since late last year but they have barely used. Its going well, I am glad that I let it collect dust for a while because they are really enjoying it. Rachel is on the front porch organizing her stuffed animals. We are all waiting for Stephanie from Mass Commission of the Blind to arrive.

Quiet day at home today with a handful of people expected to stop by. Maybe I’ll fill up the pool later.

John and I went out last night after the children were fast asleep. My middle (an admittedly very HOT (lol)) brother came and sat for us while I took John out for a couple of drinks. We rarely go anywhere together (like once or twice a year) so it was nice to go out together but bad that this was the first time we were alone and basically talked about “the situation” and how we feel and what is to come. It was good that we had a chance to talk but bad that we had a chance to talk. I’m sure that has to make sense to a few people on here..

A few things

// August 5th, 2009 // 6 Comments » // Batten, Boston, John, Julie, Kat, Life, London, Rachel

I still can’t get over that this disease actually exists. That both Jay and I were carriers and happened to meet (etc) and have a child who has this disease. I can’t get over that she is well on her way to complete blindness, although we are lucky that she still has a good bit of usable vision. This feels like a nightmare, one that we can’t wake up from. Trying to go on with smiles and cookies and clean laundry and pancakes IS what we are doing but it seems so wrong right now. I’m not crying a lot anymore and for that I am grateful. Only about 200 kids in the USA have this disease, I can’t believe that we won this lottery. This is a terrible lottery.

I’ve put together a facebook page for Rachel as I imagine I will do some BDSRA fundraising down the road and I definitely want to be a person who educates others about this disease. I must give a “shout out” to the people that run and/or belong to the BDSRA. For such a small number of affected families I’m not sure you can find a more caring and supportive organization. I have spoken to several people (either on the phone or via email) that have children further along than Rachel and some with children that have passed. They will answer ANY and EVERY question without being offended or shocked at how personal. Because of the few affected there is not that information out there on things like “average age of the first seizure” or “average age that vision was light perception only.” I’ve been gathering that information on my own and the BDSRA and members have been terrific. Seriously.

Here are a couple of links:

Rachel’s facebook page: http://www.facebook.com/pages/Rachel-von-Tungeln-LIVING-with-Juvenile-Batten-Disease/266424125552#/pages/Rachel-von-Tungeln-LIVING-with-Juvenile-Batten-Disease/266424125552?ref=mf

Our Youtube videos that I plan to add to regularly: http://www.youtube.com/user/katevon5

My blog: http://www.mrskatvon.com

BDSRA: http://www.bdsra.org/

University of Rochester Batten Disease Research: http://dbb.urmc.rochester.edu/labs/pearce/bddcrc/index.htm

This sucks so much. Not my Rachel.

Monday Update

// August 3rd, 2009 // 6 Comments » // Batten, Boston, John, Julie, Kat, London, Rachel

Rachel started on her first day of the last two weeks of school today. She was not feeling very well yesterday and ended up waking up about 8 minutes before the bus comes to pick her up. She was very excited about going with Mrs Cross and she got ready fairly easily. Still had trouble with hair, teeth and shoes but I never expect that to go very well. I’m concerned about next years placement but I am going to try it out and see how she does. I think she might have had a seizure a few days ago because I found vomit in the upstairs bathroom sink and none of the children will own up to it. If the three little ones had puked they would have come into bed in the middle of the night. If Rachel vomited and doesn’t remember it very well might be seizure related. Its hard to pick out what is Batten related and what is regular stuff.

Julie started Park and Rec today, it is the town run summer camp that goes for another three weeks. I was terrified to send her but she really wanted to try it out and it is directly across the street from our house on the L Street field. I’m sure she is going to be fine because she is really independent but I still worry. A lot. It will be good for her to break out from the house for a few weeks before starting Kindergarten and get a good tan.

London and Boston are with Linda today until 3. London was very upset that he isn’t old enough to go to camp with Julie but he is excited that he is old enough to start preschool in the fall. He wears his backpack around every chance he gets. Boston just wants to be fed and watch “Tokyo Mater” over and over again.

John and I are hanging in there. I walk around feeling really sick to my stomach and he walks around with a splitting headache. Either of us can cry at the drop of a hat. We took the kids to see Gforce on Saturday and there was a scene that set me off but no one saw. It is nice to get out and do “normal people” stuff while we can with her. Taking her out with the other 3 can be totally overwhelming for her and she can’t enjoy herself so I am trying to take her out more by herself or just with Julie. People ask me a lot how they can help and the only thing I can think of, especially those who are far away, would be to send the kids mail. If you only send mail to Rachel the other three will feel left out and I’d rather them not know for as long as possible. There will be plenty of time where the other three kids will know something is terribly wrong but I’d like to prolong that time as much as possible. Here is our shop address , I’d rather not post our home address publicly:

The Good Geeks
667 Nantasket Avenue
Hull, MA 02045
Attn: vT Kids

The kids love mail in general, stickers, postcards, etc. This isn’t a request for mail so don’t feel obligated, I just wanted to share a way that you could do something since several have asked.

I took some pictures of the three little ones yesterday playing in our teeny pool. Might try and post them soon. I’m not feeling very motivated today, it is taking a lot of effort to put on a good show for the children (although I am doing it). Takes a lot out of you to look normal but still plan for Rachel’s future.

I’m trying to decide whether or not I want to get involved with the fundraising that this disease needs to get more information and eventually a treatment/cure. I need to think about it some more. I’m most focused on keeping life normal, making money and deciding what to do for Rachel and her education as things progress. I feel strongly that we need to live close to a school for the blind and have been putting some time into researching those options.

I’ve also put a call into “Make a Wish” to see if they can do something for Rach before she loses more vision and cognition.