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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So much to say, little baby!

Posted by in Kat, Life, Rachel, Summer

Alright. I’m here to blog but don’t freak out by the title and think I’m pregnant. I’m definitely not pregnant. LOL It’s the combined parts of very last part of a song done by the Dave Matthews Band. Sounded like a good enough title (even if I cut up a perfectly good song to do it).

Where I’m at. The kids are all out of school for the summer and the first week has gone really well. We’re hanging out inside in the mornings and going in the backyard for swimming / playing in the afternoon. I am determined to have the most memorable summer on record with them (for them). We have a lot of day trips planned and are even taking a long road trip as far as Kansas City and Colorado in August. My class finishes next week so I can really let loose after that.

Still in disbelief of what is to come, still very upset about the new signs of her disease popping up. Watching her struggle breaks my heart. I’d trade places with her a thousand times over. We have some good memories to make and I won’t let this stupid disease take her chances away, even if we have to shove a lot into this short time.

I’ll blog as I have more good things to say, some memories to share with you. You don’t need to see what kind of mess I am inside so I’ll show you the good stuff. We’re going to the carnival on Friday night and I promise to bring my camera. I’ll get some pool shots up later this week.

Click here to Watch So Much to Say – DMB

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Happy 10th Birthday, Rachel!!

Posted by in Birthday, Rachel

I hope you have a great day today and don’t explode while waiting for your party on Sunday. :) I love you so much and I know so many other people love you, too!

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We’re back from the cruise

Posted by in Life, Vacation

Its been over a month since I’ve updated this blog, can’t believe it has been so long. We just spent 7 days on the Norwegian Spirit and went from Boston to Bermuda. John, myself, the children and my Mom all went and split two rooms.

Here is a link to the ship info

Here are a few of the pictures, most of you who read my blog know who the people are.

Cruise Pictures

Cruise Pictures

Cruise Pictures

Cruise Pictures

Cruise Pictures

Cruise Pictures

Cruise Pictures

Cruise Pictures

Cruise Pictures

Cruise Pictures

Cruise Pictures

Cruise Pictures

Cruise Pictures

Cruise Pictures

Cruise Pictures

Cruise Pictures

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Julie’s 6th Birthday

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

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

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Julie turns 6

Posted by in Birthday, Julie

Today is her friend party and tomorrow is her actual birthday. Can’t believe my “little” girl is 6!!!! Pictures to follow…

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