We’re Home

Posted by in Summer, Vacation

We spent the day in Storyland and decided to head home a little earlier than expected after the rain started to fall. What a magical place Storyland is. Here are some pictures:

Storyland Pictures

Storyland Pictures

Storyland Pictures

Storyland Pictures

Storyland Pictures

Storyland Pictures

Storyland Pictures

Thank you Storyland and Make-A-Wish for the Free, Passport Passes. :)

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Still up in NH

Posted by in 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

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Mini Road Trip

Posted by in Life, Summer, Vacation

This morning the kids and I left for a mini road trip to New Hampshire. I’m kind of hoping that this will be a good test run before our road trip “out west” in August. Right before we went for a week in “Disney” with Make-A-Wish we went up to a smaller amusement park called “Canobie Lake Park” to get our feet wet.

So far so good. The girls (Rachel, specifically) only asked me if we “were there yet” about 14 times on the way up. It probably would have been up 40 times if I hadn’t cracked open the vault of children’s audio books that I have been saving up.

We got to the hotel today at 2pm and headed up to explore (via McDonalds) and ended up spending 3 hours at Clark’s Trading Post < click here to see their website>

The kids are watching TV in our hotel room (I’m determined to find ONE hotel chain to use and earn some points) and we’re about to explore to see if they have a coke and/or ice machine. Momma’s dying for a diet coke and their lemonade jug is a little warm.

Pictures later. If you’re reading this take a minute to say hello. :)

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The Trip of a Lifetime (a request)

Posted by in 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.

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Disturbing Dream

Posted by in Summer, Vacation

I had the most disturbing dream of my life. One of my children was playing and wrapped a drape around his neck and that was the end of him. It was HORRIBLE. I guess it was my subconscious warning me to be extra careful with these kids when we go on our trips.

I’ve organized a dry run road trip for next week. We’ll be gone for 3 days in New Hampshire, stay in 2 hotels and go to Santa’s Village and Storyland.

Now we need to get cracking on our August plans. :) We are going down to Connecticut the last weekend in July and will head towards Missouri from there.

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First fundraiser

Posted by in 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.

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Wowzer

Posted by in 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.

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Small Fundraiser

Posted by in 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

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Juvenile Batten Disease

Posted by in 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

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Wednesday

Posted by in 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. :)


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