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)
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).
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.
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.orgRead More
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.Read More
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.Read More
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!Read More
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 are a few of the pictures, most of you who read my blog know who the people are.
Today is her friend party and tomorrow is her actual birthday. Can’t believe my “little” girl is 6!!!! Pictures to follow…Read More
I hate switching back and forth, especially in these last (nearly) 10 years since being a mom. It screws everything up.
I was pretty proud of Rachel for getting ready to completion (medicine, nasal spray, hair, teeth, GREEN clothes) in about 10 minutes. I guess the dude (or people) who thought of this time change thing had no children.
Spring is coming! Loving the warmer weather today (although I am definitely a big fan of the snow).Read More
1 Graham cracker lined pie dish from supermarket.
2 cartons of strawberry yogurt
1 large carton of cool whip
1 container of strawberries to match yoghurt .
Remove plastic cover of pie dish and keep handy. Fold all ingredients together and scoop into pie crust Replace plastic cover and freeze. Yummy desert and ready when you need one in a hurry. because it will keep for months. Defrost for 1 hour before ready to serve.Read More
Boston is playing with his toys, Rachel is laying on the couch listening to Toy Story and talking with Boston. Julie and London are in the other room playing “Batman Legos” together. We have a pretty intense storm rolling through and lots of wind blowing around the house. John is sleeping in our bed upstairs and my brother (Adrian) is a floor above him sleeping in our guest bed.
We went to BJs last night and got piles of fruit and veggies which I can’t wait to dig into today. My brother promised to make us breakfast this morning and I’m trying to balance waking him up vs. letting him sleep. Kids will be starving soon. Maybe one of the kiddos will have to go up one flight and make a lot of noise at the bottom of the stairs leading up to the floor he is sleeping on.
I’ve been spending a lot of time thinking about how to handle childcare this summer and what to do. I definitely have several trips planned with this summer, several of them will take us to amusement parks. Sometimes I wish I were a child again so these heavy things wouldn’t be hanging over my head.
Bills. Parent/Teacher Conferences. IEPs. Marriage. Familial Responsibility. Playdates. Volunteering. Childcare. Fundraisers. Boatloads of Laundry. Dishes. Pets. I’d like to escape from reality for just one day and enjoy the freedom of not always having to put on a “happy face”. Trust me, I know that isn’t going to happen but it is certainly nice to daydream….Read More