Archive for Batten

Batten Candles

// August 26th, 2010 // 1 Comment » // Batten

I registered the domain name many months ago and have toyed around with it for too long. I’ll be launching the website on September 1st and donating all of the proceeds to Batten Disease Research in hopes of finding a cure for my beautiful girl, Rachel.

Here is the website: http://www.battencandles.com/

Here is the facebook page, please become a fan and invite your friends: http://www.facebook.com/pages/Batten-Candles/109108849146358

I guess I should add this to my bucket list. :)

Day 10 – Royal Gorge

// August 11th, 2010 // 3 Comments » // Batten, Bucket List, Colorado, Memories, Vacation

The Drive: Today I drove the kids and I from the northern part of Colorado Springs to Cañon City (and back). We had free tickets through our Make-A-Wish trip and Give Kids the World and I thought it would be a great time for the kids. Yet another Bucket List item got crossed off today!

The Royal Gorge is the proud home of America’s highest suspension bridge and is sure to scare the crap out of you if you, like me, are afraid of falling from heights. We didn’t make it all the way across the bridge because the “swaying” made me really uncomfortable and I didn’t want to scare the kids. I really enjoyed the incline railway (click here to see it) and I took a bunch of pictures of the kids at the bottom, next to the beautiful Arkansas river. There were a lot of stairs all over this place and it became quite difficult to manage for Rachel. I carried her (all 110 pounds) down 2.5 flights of extremely steep stairs to the bottom of the gorge, piggyback style. Worth. Every. Last. Step.

Total Miles: About 100

Royal Gorge

Royal Gorge

Royal Gorge

Royal Gorge

Royal Gorge

Royal Gorge

Royal Gorge

Royal Gorge

Royal Gorge

Royal Gorge

Royal Gorge

Royal Gorge

Royal Gorge

Royal Gorge

Royal Gorge

Royal Gorge

Royal Gorge

Royal Gorge

Royal Gorge

Royal Gorge

Royal Gorge

Royal Gorge

And tonight I went out to coffee with some great friends. I’m waiting on my girls to email me some of their pictures but I did have one I felt was good enough to post. Here is JJ and Mel (Marie and Susan came too!)!!!!!

Coffee with my girls

Day 8 – Colorado or Bust

// August 9th, 2010 // 5 Comments » // Batten, Bucket List, Memories, Vacation

The Drive: Hays, KS to Colorado Springs, CO to Pueblo, CO to Colorado Springs, CO.

We drove down to Pueblo to have a BBQ with great friends then headed to our hotel in Colorado Springs late last night. London freaked out at night when a regular lightning storm rolled through, he was so upset! Our hotel is pretty nice and we’re staying here until Wednesday then will head to the campgrounds for a couple of nights.

We had a little time in between getting to Colorado Springs (where we used to live) and having to leave for the bbq in Pueblo so I drove down memory lane. I was taken back at how emotional the ride was… driving past restaurants, parks and other places we used to go when Rachel was much more healthy/normal/sighted than she is now. Thinking back to then makes the losses more obvious and as you can imagine I was pretty upset for a short while.

We also stopped at our old house and dropped in on our neighbor, Jacquie! We haven’t seen her in a few years when she came out to visit us!!! It has definitely been too long since I’ve seen my friends out here.

Total Miles: 399

Jamie, Melissa and the BBQ

Jamie, Melissa and the BBQ

Jamie, Melissa and the BBQ

Jamie, Melissa and the BBQ

Jamie, Melissa and the BBQ

Jamie, Melissa and the BBQ

Jamie, Melissa and the BBQ

Jamie, Melissa and the BBQ

Jamie, Melissa and the BBQ

Jamie, Melissa and the BBQ

Jamie, Melissa and the BBQ

Jamie, Melissa and the BBQ

Day 7 – Our last day in Missouri

// August 9th, 2010 // 1 Comment » // Batten, Vacation

The Drive: We laid low today because it was pretty hot but we did manage to cook up 2 fresh chickens that we bought yesterday @ Skyview Farms. The birds were fresh and we cooked them “beer can” style. Actually, my brother did all of the hard work…. The rest of us were great at taste testing. I gave them baths, did some laundry and packed. After dinner I drove the kids from Lee’s Summit, MO to Hays, KS so we could get a head start on our drive to Colorado.

Total Miles: 300

Last day in Kansas

Last day in Kansas

Last day in Kansas

Last day in Kansas

Last day in Kansas

Last day in Kansas

Last day in Kansas

Last day in Kansas

Last day in Kansas

Last day in Kansas

Last day in Kansas

Last day in Kansas

We went Lobstering!!!!

// July 26th, 2010 // 16 Comments » // Batten, Summer, Vacation

With the help of the Duran Family and Captain Pete, we were able to take our four children on a real lobster boat and go lobstering! It was perfect. The weather was great, we didn’t stay out too long and Rachel got to bring some Lobsters home to eat! Here are 30 of the BEST pictures to say farewell to one more item on our bucket list:

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

Lobstering 2010

We definitely flipped Batten Disease the bird today! :) Thank you so much to Jen, Dan and Pete!

A year

// July 21st, 2010 // 11 Comments » // Batten, Life, Rachel, Vacation

It has been a year since Rachel was diagnosed with Juvenile Batten Disease. It has been a tough year for me and for John, but about the same as the year before we were diagnosed for Rachel and the kids. She has definitely lost most of her vision in the last 2 years and has been adjusting to that. Its interesting that her brain is slowing down, her gait is affected, she is nearing complete blindness but she never complains and rarely mentions difficulties.

Although I am sad and pretty much want to drink myself into absolute oblivion, I have a stronger resolve to make sure that our road trip is LITERALLY the trip of her lifetime. I want to have extra patience, be extra excited, plan extra harder and do everything twice as good. I don’t want to waste too much time being depressed about her disease because that is futile.

With any luck, I will live through this.

With any luck, I will have three children grow up and be healthy / generally happy adults. I need to make sure their memories are extra good and that Batten Disease isn’t what they think of first when they look back.

With all of that said, here is a map of our approximate travel route. The purple line on the bottom is how we are getting to KC / CO… and the line at the top is the route we are taking to get home. Click on the map and you’ll see a bigger version.

If you have any suggestions with good stopping places or “MUST SEE” places, please let me know. This trips means the world to me.

Please repost this on your blog or facebook page. I’d love more input!!

Saturday – Random Photo

// July 17th, 2010 // 4 Comments » // Batten, Colorado, Memories, Pictures

We’re back from our trip and the kids are vegging out in front of the TV and having a relaxing morning. I’m going through our trip pictures and organizing the entirety of my pictures. I just sent out an email to everyone I could think of, looking for pictures of my kids when they were really little. I’ve lost more pictures than I care to think about and am hoping to fill the void somewhat. I figured this would be a good time to include a picture of Julie that I took back in 2005, soon after our move to Colorado.

It is hard to look back at that time, a time when we had everything. We still have so much and are more lucky in our lives than most people will ever be. But still, living through Rachel’s life with Batten Disease is deafening at times and quite fun at others. There is life despite what she is going through, but it will never ever be the same. The joy will never (for me) be pure again. Despite my realism in this paragraph, it is my personal mission in life to hide my pain from my children so that they can enjoy their lives as much as possible. When the time comes that they realize the gravity of Rachel’s diagnosis, I will open up. But for now, those kids will enjoy their childhoods, even if it they don’t want to. LOL

Still up in NH

// July 15th, 2010 // 7 Comments » // Batten, Rachel, Vacation

Having a good time. Kids were definitely worn out tonight and less able to keep it together. I am hoping for a late start tomorrow and a half day at Storyland.

Then grief comes and slaps me in the face. It creeps up with no warning. And with immeasurable force.

Most people, I think, use the term grief to describe the range of emotions after something has happened, after someone has died. It’s really f-ed up to grieve your child, years before they will die. I get years of pure joy stolen from my family while my child is robbed of all of her abilities and then I will lose my child.

Grief sucks.

And I don’t believe in the stages of grief.

I think my list of what I do believe in is a hell of a lot shorter than the huge list of the things I don’t believe in.

(If you’ve read this far, thank you. Here are a few pictures of my babies in Santa’s Village today)

Santa Pictures

Santa Pictures

Santa Pictures

Santa Pictures

Santa Pictures

Santa Pictures

Santa Pictures

Santa Pictures

Santa Pictures

The Trip of a Lifetime (a request)

// July 9th, 2010 // 3 Comments » // Batten, Rachel, Summer, Vacation

We are headed out from here (Bostonish, Massachusetts) and driving down to spend a day with my brother in CT. From there we plan to take Highway 70 out to Kansas City (seeing another brother) and then out through Kansas City, bound for Colorado. I think we will take a different highway back, probably highway 80. We’re looking for family friendly places to go, maybe hole in the walls or well known places. I’d really like if you could share this blog entry with your friends/family so we could get some amazing suggestions.

This trip will take place in the first couple of weeks (ish) in August. This is a trip of a lifetime for Rachel (and my other three munchkins), I really want to make it count. Thank you.

First fundraiser

// July 4th, 2010 // No Comments » // Batten

We raised $615 for the BDSRA through our Lemonade and Water Stand on July 4th.

This is definitely going to be an annual event! Thank you so much to Janet & Joe Donato, Eileen & Andrew Muir, Mary Johnson and everyone who came and helped out.

Wowzer

// July 3rd, 2010 // 2 Comments » // Batten

We had a very busy day today. I took the girls and my nieces shopping and for lunch then used our remaining Go Kart tickets.

When we got home I took the kids swimming for about 30 minutes and as we were getting out of the pool, my nieces and nephews came over for some swimming. My kiddos were thrilled!

Tonight we took Rachel to the wholesale store to get food and drinks for our July 4th BBQ. She was OFF THE WALL. Major dementia. The absolute worst “bout” I have seen in her yet. She wasn’t agitated, which was good, but she was a HANDFUL.

Tomorrow we will all have a good day and the dementia will be gone. Tomorrow will be a great day. Tomorrow will be fun.

It has to be.

Small Fundraiser

// June 30th, 2010 // 1 Comment » // Batten

Rachel REALLY wants to have a lemonade stand to raise money for the BDSRA. We are going to put out a lemonade stand on the 4th of July at our house to hopefully catch the beachgoers who park near our house and walk to the beach. If you live nearby and can come, please do! I set-up a paypal account today with my personal email that you can GIFT money through to avoid fees. If you are far away or unable to attend and you would like to participate my paypal email address is mrskatvon@gmail.com – here are the details of her stand.

Rachel’s Lemonade Stand
35 N Street
Hull, MA 02045

Date: Sunday, July 4th
Time: 9am – 12noon

Here is the facebook event page: http://www.facebook.com/#!/event.php?eid=112552612125564

We’ll be selling cups of pink lemonade or bottles of water for $1.00 each. All (and I mean ALL) monies received will be donated directly to the BDSRA in the name of Juvenile Batten Disease Research.

Please email me with any questions. mrskatvon@gmail.com

Juvenile Batten Disease

// June 29th, 2010 // 3 Comments » // Batten

I did some extra credit work in my Biology class and wrote a brief write-up on three different diseases of the organelle. Here is my bit on Batten Disease:

NEURONAL CEROID LIPOFUSCINOSIS CLN3 (JUVENILE BATTEN DISEASE)

ORGANELLE: Lysosome

CAUSE

Juvenile Batten disease is inherited in an autosomal recessive pattern. Both parents of the affected child must have one copy of the defective gene (1.02 kb deletion) located on the 16th chromosome (in 73% of cases). Several children with Batten Disease have some form of mutation that has not been identified on any chromosome. The affected child with the “standard form” receives both copies of the “bad” gene, and, as a result suffers from the below listed symptoms and eventual death. Children born from 2 parents that have one copy of the “bad” gene have a 1 in 4 chance of receiving both “bad” copies, thus suffering from the disease. Juvenile Batten Disease causes improper lysosomal function which prevents the lysosome from adequately recycling waste material and causes fats and proteins to build up in the Brain, Retina and Central Nervous System. The cells in these three areas become excited and burn out (cell death).

SYMPTOMS

The symptoms of Juvenile Batten Disease generally manifest themselves when the child is between 5 to 10 years of age. In some children with this disease the first symptom is seizures (Grand Mal, Absence, Drop) but some children don’t start to seizure until much later. Other children might start showing symptoms of Vision Loss (which could be first diagnosed as Retinitis Pigmentosa) or Short Term (Working) Memory problems. As the disease progresses children will suffer uncontrollable seizures, become totally blind and will lose the ability to walk, talk, swallow, think, will become demented and suffer from severe hallucinations.

This disease has a 100% fatality rate, often causing death by the late teens or early 20’s. Also note that the brain of the affected child suffers from extensive atrophy during the course of the disease.

TREATMENTS

All treatments for Juvenile Batten Disease, at this time, are symptomatic. Seizure medications are useful in keeping the severity and frequency of seizures under control. Feeding tubes are placed when the child starts to have difficulty with swallowing to allow substantial nutrition. Multiple adaptive devices are used to assist the child with declining mobility and eventual paralysis.

Although there are no active drug trials to prevent or slow the outcome of this disease, there has been some research proving that this disease causes an autoimmune response. The University of Rochester is trying to organize funding to test the safety of Cellcept (Mycophenolate) because there is some proof that shows a decline and reversal of symptoms in mice that have had their good copies of the “Batten Disease Gene” knocked out.

FOR MORE INFORMATION: www.bdsra.org

Wednesday

// June 23rd, 2010 // 4 Comments » // Batten, Boston, Julie, Kat, London, Rachel, Summer

I’ve spent the last few days writing a “paper” of sorts for my Biology Class. We had to select three diseases of the organelles and discuss the cause, symptoms and treatment for each. I selected Batten Disease (Disease of the Lysosome), Diamond-Blackfan Anemia (Disease of the Ribosome) and Leigh Disease (Disease of the Mitochondria).

It absolutely kills me that so few people have heard of any of these, know nothing about all of the rare diseases out there. If we don’t have awareness, we won’t be able to cure any of them. As selfish as I know it is, my disease of choice is Juvenile Batten Disease because my daughter suffers from it. I want to do so much for this disease but I just don’t know where to start. The science behind it is extremely interesting to me but it will take me years of school to be in a professional position to do any research. I have this child 3 feet from me listening to Star Wars Clone Wars and I need to do something to help her.

Here are some pictures from yesterday. The last picture is historical proof that my Mom (in her late sixties) will still climb into a gokart. :)


I forgot to update

// March 5th, 2010 // 2 Comments » // Batten, Rachel

Rachel did not have the surgery yesterday, I cancelled it at the last minute. I couldn’t get over how terrifying the post-operative clean out appointments would be for her. I tried very hard to get her a Valium type medication from both the ENT and our Primary Care but no one felt comfortable prescribing that for her because they are respiratory suppressants.

I am going to push harder for her to use saline and maybe try to pin her down and use a neti pot on her. Increase the humidity in her room and possible get her a hospital type bed so she can sleep reclined. I’m also going to see if I can get our primary care Dr. to prescribe a steroid nasal spray to try and decrease her inflammation that way.

I have no doubt that the end result of the surgery would have improved her breathing but I couldn’t get past how terrified she would be every time I took her back for another “clean-out.”

I feel good about my decision.

My brother comes out to visit next week…. better get the lobster order ready.

I promise a “non Rachel & Batten disease” entry later today.

Depressed

// March 4th, 2010 // 6 Comments » // Batten, Rachel

Rachel seems to be going into a depression. Who wouldn’t be depressed, losing your vision, losing your mind.

I’m looking at old pictures of her, seeing that smile, trying to remember what the BEFORE was like.

This just can’t be real.

Well

// March 2nd, 2010 // 7 Comments » // Batten, Kat

I pretty much feel dead inside tonight and I thought I’d be nice and share it all with everyone who reads my blog. John went last week and got tested to make sure he isn’t a carrier of Batten Disease. Those results should be back in another week or 2.

I’m terrified, literally terrified that he will come back as a carrier for JNCL. Its really unlikely, but I have heard of this happening before in a conversation with another Batten Parent who got their diagnosis some years before we did.

My healthy other 3 children can sometimes be what get me out of bed in the morning, knowing that they have this future I must look forward to. I can’t imagine what it is like for the other parents that have multiple children affected. Please don’t ever let me find out what that is like.

I know my mind is getting the best of me tonight. I’m going to bed.

Oh and Rachel is having sinus surgery on Thursday. I haven’t told her. It is going to be hell. A more acutely experienced hell than normal. I’d like to add some curse words at this time but I don’t want to lose my most regular commenter (my Mom). So assume I said them so I can temporarily feel better.

‘Nite

I

// February 11th, 2010 // 1 Comment » // Batten, Kat, Life, Valentines

I am working on accepting that some children’t won’t grow up and live happily ever after. It is a concept that I live with and I struggle with every single day.

My children don’t see the struggle. This evening for dinner they had their choice of Mommy’s homemade chili or an unlimited supply of cupcakes. 3 / 4 chose cupcakes and my Julie chose both.

Who doesn’t love cupcakes? (Answer: No one I care to know).

Some kids don’t have a “happily ever after.” They just don’t.

The Bucket List

// January 24th, 2010 // 11 Comments » // Batten, Bucket List, Colorado, Julie, Kat, Life, London, Maine, Rachel

So if you follow Rachel’s facebook page or know me “in real life” you’ll probably know that the idea of a Bucket List has been the topic of several conversations between me and the kiddos. They don’t understand that this has ANYTHING to do with death so please don’t comment or email me worried that I have a doom and gloom attitude that is negatively affecting them. My positivity is borderline disgusting. LOL

I’ve put “The Bucket List” on the top right of the blog and plan to add many, many more things to the list as the weeks go by. The plan is to take a very long (nearly) cross country trip stretching from Boston up north to Maine and all the way West to Kansas City then Colorado and back. We have free access to several amusement parks through September and I’d like to take advantage of this gift from “Give Kids the World” (the place we stayed in Florida on our Make A Wish trip).

I’m also setting up a FLICKR account to link our pictures from all of these successful missions to show the world that life is too short to wait on the important things in life. Life is too short, people. It’s a fact. Batten Disease is such a shit disease, I refuse to let it steal my Rachel until she has had the chance to use up her body and slides into home base covered in fattening food and exhausted from life.

The more afternoons I can get my children sticky with ice cream this summer, the better! I’ll leave you with a picture from Summer 2009 (the extra 9 year old boy in the picture is my nephew Ryan).

You keep that thumb in the up position, baby. Hold on tight because I’m going to drag you all over this country!!! :)

For the unaware, “The Bucket List” was a movie that came out in 2007. < link to IMDB>

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).