The trial begins!
The Juvenile Batten Disease’s one and only trial that they have been talking about for years has finally been opened! I found it yesterday at clinicaltrials.gov and have emailed the folks running the trial to ask them to consider Rachel. It will require that she takes a liquid medicine everyday as well as ranitidine (antacid). The trial is double blind which means she will definitely get the medicine but she will also get the placebo. We’ll have to visit New York 4 times and work with Dr Sims (Rachel’s Neurologist at Mass General) for clinical evaluations. This won’t be a cure but if this medicine does anything, and is safe then maybe we’ll be able to get her this medicine after the trial. Here’s hoping!
Trial Medication: CellCept (Mycophenolate Mofetil)
What does this medication do? It’s an immunosuppressant
Side Effects: See also Warnings section.Constipation, nausea, headache, diarrhea, vomiting, stomach upset, loss of appetite, gas, tremor, or trouble sleeping may occur. If any of these effects persist or worsen, notify your doctor or pharmacist promptly.Remember that your doctor has prescribed this medication because he or she has judged that the benefit to you is greater than the risk of side effects. Many people using this medication do not have serious side effects.Because this medication weakens your immune system, you are more likely to develop infections which may be serious. Tell your doctor immediately if you develop any of the following signs of infection: persistent sore throat/fever, night sweats, flu-like symptoms, painful urination, vision changes, a sore or wound on the skin that feels warm/tender/painful and appears reddened.This drug increases the risk of a rare and possibly fatal brain infection (PML – progressive multifocal leukoencephalopathy). Tell your doctor right away if you have any of these symptoms: clumsiness, sudden change in your thinking (such as confusion, difficulty concentrating), difficulty moving muscles, seizure, difficulty speaking.Tell your doctor immediately if any of these unlikely but serious side effects occur: unusual tiredness, fast/irregular heartbeat, muscle weakness, easy bleeding/bruising, swelling of the feet or ankles, mental/mood changes, weakness on one side of the body, unusual change in the amount of urine.Seek immediate medical attention if any of these rare but very serious side effects occur: chest pain, stomach/abdominal pain, black/tarry stools, vomit that looks like coffee grounds, shortness of breath/rapid breathing.A very serious allergic reaction to this drug is unlikely, but seek immediate medical attention if it occurs. Symptoms of a serious allergic reaction may include: rash, itching/swelling (especially of the face/tongue/throat), severe dizziness, trouble breathing.This is not a complete list of possible side effects. If you notice other effects not listed above, contact your doctor or pharmacist.In the US -Call your doctor for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088.In Canada – Call your doctor for medical advice about side effects. You may report side effects to Health Canada at 1-866-234-2345.
Warnings: Mycophenolate decreases the body’s ability to protect against illness and infection, and may also increase your risk of developing lymph node tumors (lymphoma) and other types of tumors. Therefore, this medication must only be given under close medical supervision. Discuss the risks of taking mycophenolate with your doctor. Notify your doctor immediately if you develop signs of infection (such as persistent sore throat or fever) or other symptoms such as weight loss, night sweats, enlarged lymph nodes, or skin growths.
Read MoreSeizure #5
Rachel has a Grand Mal today on Nantasket Beach under the care of my 16 and 15 year old neices who also had Julie, London, Boston and their little sister. The girls handled Rachel very well, Sarah took care of Rachel while Haley ran to the beach bag and grabbed the Diastat and “did what had to be done” with it. So, so impressed with them.
The seizure lasted about 2 minutes. (Just writing this down for documentation’s sake).
Read MoreiCarly
Rachel went to see iCarly (Miranda Cosgrove) in concert with her friend Anthony. Rachel had a great time and came home with a real concert t-shirt! Thank you to the Berlin family for being so generous and buying tickets so she could go! Pretty cool to cross off a bucket list item that you didn’t know you wanted to do until you were given the chance. Life is pretty amazing like that… 
Today
Today we went blueberry picking with our wonderful cousin (my neice) Sarah. We all had a good time and then went to Mickey D’s and onto Bridgewater State so Sarah (going into her senior year) could look around.
Today was also another day that showed Rachel is becoming more aggressive. I need to do some “studies” and see if her aggression is because of being out of the house for too long or having her siblings around or…. I don’t know.
What I do know is that watching your child slowly lose her mind has to be just about the most painful experience in the world. People who think that everything happens for a reason are completely mistaken (I’m being “nice” in my terminology) or haven’t thoroughly thought that statement out and/or haven’t had to watch their child suffer extensively. There is no good reason to put a beautiful, intelligent and thoughtful little girl through this. If you take offense at this declaration then feel free to turn around and never visit this blog again. The next person who tells me that “everything happens for a reason” can expect an ass kicking.
Read MoreRachel shooting hoops!
This is Rachel with her summer school teacher shooting hoops!!! Turn your head sideways to watch.
Noah’s New Video
Noah ran from Cali to Fla this year for kids like my daughter, Rachel. Kids that are living with Batten Disease. Check-out his new (and very awesome!) video:
Read MoreSeptember 2011
After the recent heat wave affecting New England we (me and the kids) have decided to postpone our summer road trip until September. Its a good excuse to blow off a little school but more importantly the weather will be more temperate and I won’t have to deal with 110 degrees while strolling through Hays, KS or Terre Haute, IN. We stayed there last year in our travels and both were little slices of hell on earth. Neither my kiddos nor their Mom do very well in such high heat.
We’ll be driving out to Colorado and hopefully staying at the Garden of the Gods Campground (they don’t close until September 30th) for about a week and hanging out with incredible friends (they can only be found in one place apparently lol). We were considering staying a while but the Colorado Springs School for the Blind isn’t sure if they’ll be able to provide programming for Rachel.
We’ve generally traveled route 70 and took route 80 home once but we are open to suggestions. Any good road stop ideas? I really want to go to Niagra Falls this time around…. but I hate the drive through upstate New York.
Planning to go to the Flying W for dinner, Santas Workshop for some fun, Geocaching, then float down the Arkansas River and we (me) are looking to do some stock friendly trails with the Jeep while we are out there. Every summer seems to be a little more difficult than the last so we have no choice but to take life by the horns……………..
Read MoreCinnamon Buns
What started out as my plan to make a special cake for our 2-year diagnosis anniversary turned into a desperate need of Rachel’s to have cinnamon buns. Since we are a family that likes to roll with whatever comes to us, I switched gears and made what the little angel wanted. (Anyone get the Lilo and Stitch reference to “little angel?”).
Here is the recipe for Cinnabon Cinnamon Buns:
Ingredients:
Servings: 12
- 1 (1/4 ounce) package dry yeast
- 1 cup warm milk
- 1/2 cup granulated sugar
- 1/3 cup margarine
- 1 teaspoon salt
- 2 eggs
- 4 cups flour
FILLING
- 1 cup packed brown sugar
- 2 1/2 tablespoons cinnamon
- 1/3 cup margarine, softened
ICING
- 8 tablespoons margarine
- 1 1/2 cups powdered sugar
- 1/4 cup cream cheese
- 1/2 teaspoon vanilla
- 1/8 teaspoon salt
Directions:
Total Time: 1 1/4 hr
- 1 For the rolls, dissolve the yeast in the warm milk in a large bowl.
- 2 Add sugar, margarine salt, eggs, and flour, mix well.
- 3 Knead the dough into a large ball, using your hands dusted lightly with flour.
- 4 Put in a bowl, cover and let rise in a warm place about 1 hour or until the dough has doubled in size. (I had to let them rise for 2 hours)
- 5 Roll the dough out on a lightly floured surface, until it is approx 21 inches long by 16 inches wide.
- 6 It should be approx 1/4 thick.
- 7 Preheat oven to 400 degrees.
- 8 To make filling, combine the brown sugar and cinnamon in a bowl.
- 9 Spread the softened margarine over the surface of the dough, then sprinkle the brown sugar and cinnamon evenly over the surface.
- 10 Working carefully, from the long edge, roll the dough down to the bottom edge.
- 11 Cut the dough into 1 3/4 inch slices, and place in a lightly greased baking pan.
- 12 Bake for 10 minutes or until light golden brown.
- 13 While the rolls are baking combine the icing ingredients.
- 14 Beat well with an electric mixer until fluffy.
- 15 When the rolls are done, spread generously with icing.
Cinnabon Cinnamon Buns
Yeah. I know the picture is blurry but you have to imagine my life. 4 kids, 1 great niece helping with my oldest and constant email/work requirements and everyone is grouchy because I hadn’t fed them dinner yet.
Nearly 2 years
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.
Read More
TeamRachel aka mrskatvon is both a website to gain public awareness of Juvenile Batten Disease (which affects my oldest daughter) as well as a journal to remember the events in our lives.
Rachel was diagnosed with Batten Disease in July 2009 and while we knew something was "not right" we had no idea that such a nightmarish disease existed. There are dozens of nasty, orphan disease which affect people both very young and old.
Aside from dealing with the changes of Batten Disease in my daughter, Rachel, I have tasked myself with making life memorable for all of my children to make sure that (at least) 3 of them grow up to be as well adjusted and happy as possible.
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