Family, Life, Race Update

Posted by Kat in Batten Disease, Blog, Boston, Bucket List, John, Julie, Kat, Life, Rachel, Research

We are all back to school doing full-day classes. Rachel has settled into 5th Grade, Julie is loving 2nd grade, London can’t wait to go to Kindergarten everyday and Boston is enjoying going to full-day Montessori. Boston has been acting up A LOT so I am trying to find ways to give him 1:1 time and so far I’ve been taking him on morning bike rides before school. This morning we went to the beach because we had a few minutes to spare and looked for shells.

On my walk home from Julie and London’s bus stop I was lamenting to myself that getting all 4 kids ready for full-day school in the morning (NOW) is easier than it was when it was only Rachel who was going to school.  I can only imagine what the neighbors thought while Rachel screamed and cried and yelled and hit us while we got her dressed in the morning and that is pale in comparison to the intense sensory agony she was in while we brushed her hair, her teeth or put socks on her.  I am so grateful for medication and how it has given us intermittent good times with her at home and substantial amounts of good time at school, and with Granny or one on one with someone.

Tomorrow we are running our annual jewelry table for Endless Summer (www.endlesssummerhull.com) with a twist because this year we are seeking runners, walkers, volunteers and business sponsors as we are raising money for Juvenile Batten Disease.  The race planning is going very well and we are getting a lot of buzz around our town through all 3 schools, loads of residents and our customers.  I am very excited about this race, c’mon October 23rd!

We have put Rachel’s name in the hat for the trial and are waiting to hear as to when she can start  I have filled out all of the paperwork, caught her up on vaccinations and have gotten permission from Dr Sims (Rachel’s Neuro at Mass General) to be her local doctor.

Things we have planned?  Outside of the upcoming road race I have two pretty giant things in store for my kids.  A day or so after Christmas we are driving down to florida and renting a house with a pool and will spend our Winter break in the warmth.  :)

Next summer?  A few days after school lets out I am taking a complete cross country road trip with my cherubs going from Boston to California and back.  We are also planning to drive north for a few days and spend time with James and his family (James is Rachel’s biological father).  I know people have asked me why I would bother doing that as James has been out of her life (by his choice) for many years but really this isn’t about me or about him.  This is about the kids.  I think it will be great for my 4 children to meet their twin sisters.  Technically they are only Rachel’s half sisters but my motto has always been “You can’t have enough people love your kid.”  (Or in my case, kids).  I have a lot of planning to do for that but the details are all on hold until after this road race.

London especially wants to dip his toes in the Pacific ocean, his life’s dream is to live in California and drive a minivan.  I figure a good test drive through Cali could help him to see if this is something he wants to aspire to do or not.  Yeah, he is barely 6 but he talks about it everyday.

Life is too short to waste it waiting for things to happen so you can move forward.  Move forward, move things into place.  Make things happen.  Your life could be over tomorrow.  Live without a lot of regrets.  Live enthusiastically.  IF we only know, truly, how many people in this world, in America, in your own town, maybe even on your street, who are fighting for their lives…  Just thinking about it is very humbling to me.

- With love, Kat.

Meet John

Posted by Kat in John, Life

As punishment for being my husband and barely reading my blog, may I present to you this unflattering picture of him.

Nearly 2 years

Posted by Kat in Batten Disease, Boston, John, Julie, Kat, Life, London, Rachel

Tomorrow marks the 2 anniversary of Rachel being officially diagnosed.  Its been a hard 2 years but I’ve worked my ass off to make it as fun and as successful as this time could possibly be.  There are huge marks of decline in her but at the same time we can’t ignore her infectious laugh, her record setting appetite, her love for her Granny and dozens of other things that prove she has a good quality to her life.  That is all that this is about now: Quality of Life.

I have this ridiculously high in calorie cake that I plan to make tomorrow to mark the occasion.  (Chocolate Snowball Cake).  If I die from clogging my arteries with this delicious cake please note that I died happy. 

Here is a picture I took of  my A-Team last week which visiting our new shop in Weymouth (they never look at the camera at the same time, lol):

Rachel, Julie, London and Boston (July 2011)

This is a picture of the wonderful person (Sue) who took my husband and kids out on her boat last week.  We went to fascination and she won a WHEEL SPIN!!!  She might kill me for putting this picture on the blog but I wanted to give her an honorable mention because there are very few people in the world who are so giving and I really appreciate her in our lives.

Sue at Fascination

I took Rachel and the kids to the Hull Fire Station for their safety day.   Her siblings climbed up onto the Jetski (on trailer) and where they go, Rachel has to go  (my rule lol) so I heaved her up:

Rachel on the Hull Fire Jet Ski

Have a good day if you are reading this.  I’ll post another entry with more pictures tomorrow.

4/1/2011

Posted by Kat in Boston, John, Julie, Kat, Life, London, Rachel

Nothing too special to write today. I’ve promised John not to “get him” on April Fools Day today. Last year I had him believing the trash company wrote us a nasty letter and fired us because of the volume of our weekly garbage output. He was fuming and about to call the trash company and then I said to him “April Fools.” I’m not sure he has forgiven me for that. LOL

I started going back to the gym and have done a few Yoga classes (free child care, woohoo!) and its good to work out again but the kid free time is priceless.

Rachel and Julie have a father-daughter dance tonight for girl scouts, and Julie and London have Art class after school. I have a 10am yoga class today (the boys are going to childcare at the Gym) and all I want to do is stay home and watch the drizzle from my couch with a cup of coffee in hand.

What do people live for?

Posted by Kat in Boston, Bucket List, John, Julie, Kat, Life, London, Rachel

I took Rachel to her second appointment with her Pediatric Rheumatologist and he confirmed that she does have Lupus, also known as Systemic Lupus Erthymisomethingerother. How does a beautiful and innocent kid end up getting an early death sentence and Lupus? It’s total bullshit and rather than be angry this fine evening I would like to pose a question to those folks that still read my infrequently updated blog.

What do you live for?

Last year I spent many weeks living to cross off items on the bucket list, taking my kids to multiple states and experiencing all sorts of awesome things. Already this year I have driven my kids down to Florida and back and watched the miracle of Rachel and London learn how to swim. I have personally been living to make sure Rachel, Julie, London and Boston get to experience countless amazing days while Rachel can.

This year I want to continue this mission but maybe travel a little less (my new Jeep is not so good with gas mileage). Planning on sharpening our camping skills, maybe get a little sailboat. I’m looking for more adventuring ideas, things to enjoy, experience, to LIVE for.

So… What do you live for?

Took this picture of Rachel today. We clocked 100 miles with the Jeep’s top down today. It was 65 degrees in Massachusetts today!

Still waiting

Posted by Kat in Batten Disease, Blog, Halloween, John

Rachel’s rash from (presumably) Risperdal has been developing over the last few months and covers a good portion of her body.  Its not an angry rash, I would say it looks more like goosebumps that are red in a few places.  This medication has been good to get the ADD symptoms of Batten Disease under control and help make for a happier day for her and everyone… BUT… she has put on nearly 50 pounds since starting it.  At her age she was expected to gain some weight as puberty is around the corner but 50 pounds is crazy.

I’ve been working on coming up with the next step for her medication (she, thankfully only takes Risperdal and Prozac) because this weight makes her uncomfortable.  I brought a list of possibilities to the Doctor 10 days ago and we agreed to start her on Lamictal which is an anti-convulsant medication that is the only medication certified by the FDA to treat Bipolar disorder (other than Lithium).  Apparently the “starter pack” of the medication is quite expensive and insurance is still taking its time…

I find this endlessly frustrating and time consuming.  Making multiple phone calls to get a medication that she NEEDS for an organic, degenerative brain disease seems terrible.  I’m absolutely positive that I’m not the first person with a sick kid who had to climb through hurdles and I’m quite positive that I’ll look back at this entry in a few years and laugh with all that is to come.

Julie’s 6th Birthday

Posted by Kat in Birthday, Boston, Good Stuff, John, Kat, Pictures, Rachel

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

Trip to Maine

Posted by Kat in 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!

Posted by Kat in 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!

Posted by Kat in 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

Rachel on the Christmas Carousel Horse

No Batten Disease in these pictures!

Rachel and John read the news

Posted by Kat in 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

Posted by Kat in 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

Posted by Kat in 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

Posted by Kat in 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!

Posted by Kat in 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.