This is Rachel with her summer school teacher shooting hoops!!! Turn your head sideways to watch.
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:
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?”).
- 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
- 8 tablespoons margarine
- 1 1/2 cups powdered sugar
- 1/4 cup cream cheese
- 1/2 teaspoon vanilla
- 1/8 teaspoon salt
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.
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. …
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):
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.
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:
Have a good day if you are reading this. I’ll post another entry with more pictures tomorrow.…
The Hull Times (www.hulltimes.com) did an article on Rachel and our family this week. Thank you Catherine Goldhammer for covering Rach, Batten Disease and our family.
Every day brings family joy, despite child’s rare disease
Written By Catherine Goldhammer
Rachel von Tungeln is 11 years old. She likes to swim, go to the beach, listen to movies and audio books, and go out for family dinners. She likes to play with her rabbit, whose name is Timothy. Rachel also has Batten Disease, a rare and terminal neurological disorder that has created a change in the lives of this Hull family.
Kat and John Van Tungeln live in Hull with Rachel, her sister Julie, age seven, and her brothers London, five, and Boston, four. The von Tungelns own The Good Geeks, at 667 Nantasket Ave., near the corner of A St. John is the computer wizard. Kat designs websites and runs the marketing aspect of the business. They are a regular family living with four children and an unexpected circumstance.
If you have never heard of Batten Disease, you are far from alone. It is a genetic, neurological disease that affects infants and children, and is caused by a buildup of lipopigments in the retina, the brain, and the nervous system. The symptoms of the Juvenile form of the disease, which Rachel has, usually go from visual impairment to cognitive deterioration, seizures, deterioration of motor skills, blindness, and physical and mental disability. It affects only about 200 people in this country, and there is no cure.
Rachel is Kat’s daughter from a first marriage. John has been part of their lives since Rachel was one-and-a-half and he adopted her in 2004. John and Kat’s other children do not carry the gene for Batten Disease.
Rachel first showed symptoms when she was in first grade and began to have learning difficulties. She repeated first grade and teachers began to mention visual problems, although her eyesight repeatedly tested as normal. She had symptoms that go along with a variety of learning disorders, such as problems with working memory and attention span.
But Kat von Tungeln is nothing if not determined. She knew something was wrong and, in addition to consulting numerous eye doctors, neurologists, and pediatric specialists, she also conducted exhaustive Internet searches, looking for any results for the combinations of symptoms she was seeing in her daughter.
When a vision test revealed scarring of the retina and optic nerve, the search for a diagnosis became even more serious.
“I didn’t even know a disease like this existed,” Kat says. Finally she happened upon information about Batten Disease. When she asked a neurologist at Children’s Hospital to test Rachel for it, he refused, certain that she did not have it. Finally he agreed to the testing and the results were positive.
That was two years ago. The diagnosis was devastating. “For the first year and a half, I cried all the time,” John says. “You can’t make any sense of it. There is none.”
Since then, the disease has followed a typical progression. “In the last two years, she has gone from visually impaired to 98 percent blind,” says Kat. Rachel also has seizures and her balance is increasingly affected. She has slowly become more cognitively impaired.
“Home life is as normal as it can possibly be,” says John. He and Kat describe a life with the usual challenges and joys of raising four children. They describe Rachel as sweet and loving and joyful. “We take her everywhere we can and try to give her as much experience as we possibly can,” John says.
Rachel attends the Jacobs School, where Tammy Petrocelli has been her aide for two years. While Rachel is assigned to a mainstream classroom – she’s going into fifth grade this year – she spends most of her time in a special education classroom. Even so, the children in her fifth-grade class know her and, because they know she is blind, when they greet her they are sure to tell her who they are.
Because it is so rare, raising awareness of Batten Disease is important. A young man named Noah Coughlan this year ran across the southern United States, covering 2,400 miles in support of the search for a cure. He arrived in Florida this month.
Kat von Tungeln’s hope is to raise awareness on a local level. Her family recently raised over $1,000 by holding a yard sale and lemonade stand. They are having a 5K road race this October. All proceeds from both benefits will go to Batten Disease research.
To learn more or to contribute to research, visit the website of the Batten Disease Support and Research Association at www.bdsra.org.
Learn more about Rachel and her family’s fundraising efforts, including the 5 K race, at www.teamrachel.com.…
Oh my goodness, I am hooked! If you don’t know what geocaching is, there is this great website www.geocaching.com
What is geocaching: Geocaching is a real-world, outdoor treasure hunting game using GPS-enabled devices. Participants navigate to a specific set of GPS coordinates and then attempt to find the geocache (container) hidden at that location.
Yesterday I took John and the kids on an adventure. We finally have the third row seat in my jeep so we were able to go – all 6 of us together. First time since January. We went to 5 sites and found 4 of the caches. We traveled to beaches and woods and parks that we have never been to before. It was beautiful, the warm sun felt so good on our skin and it was great to get everyone some exercise.
Of the 4 caches we found, John found 3 of them. I was mostly on Rachel duty and ended up about 50 yards behind the rest of them but we didn’t give up. Cache #4 was found by Rachel at a very old cemetery in Cohasset, Massachusetts. We were on the site for about 15 minutes and just couldn’t find it (about to leave) and Rachel was hanging on to this old iron gate and feeling all around it and what did she find???! Yes!!! It was this micro cache (about the size of a fat watch battery) that unscrewed with a very teeny tiny paper scroll inside. It was magnetized and was “stuck” to this gate. Couldn’t have been a more perfect find. Leave it up to my beautiful blind daughter to find what all of us sighted folk couldn’t see. I am so proud of her, was a great boost to her self esteem.
I think I might steal the kids away from their summertime boredom to do more treasure hunting today because I am hooked. HOOKED! We are also going to make a few of our own caches and hide them nearby for others to find.
Weird conversations come up in my family and today was more of the same. While we were swimming our pool me and the kids were talking about “where we want to be buried.” I feel very strongly about cremation and the kids know that being buried means where we want our ashes spread. Here is the list of where:
Me: Scatter me on Pikes Peak as high up as you can go without throwing up lol
Rachel: Granny’s House or London, England
Julie: Orlando, FL
Boston: Boston (Boston Harbor), MA
All of them felt that Bermuda was a good back-up location.
Gosh this blog has been unloved. I can fix that for you, Ben.
Happy Last Day of School kids!!!!!!!!!!!!!…
On Monday at around 835am Rachel had her fourth seizure. This was a Grand Mal that lasted 3 minutes.
(I am blogging about this to track the dates and times to see if I can find a pattern). They all seem to be around the 20th of the month…
I wish it were autumn and I posted this entry with “The Fall” title to describe how beautiful the leaves are and how crisp the air feels. Instead of that, I am writing about Rachel falling head first down the stairs.
Date: May 1st 2011
Where: Second floor of our House
Who: Rachel, my beautiful 10 year old daughter, fell down the stairs. I had just handed her one of her dresses on a coat hanger and asked her to hang the dress in her closet. She got confused for a moment and waltzed to the stairs thinking she was walking into her own bedroom. Our stairs are split in the middle so the first half goes straight down and the second have takes a 90 degree turn to the right.
It was a horrible, horrible sound. I got down the stairs to hear as quick as lightning and she was awake but crying and confused. John moved her to the couch for me and she must have asked me 30 times “What Happened?” because she could not remember. She felt like she was going to be sick for a while but never lost conciousness. My Mom came over and sat with her for a bit (Granny is her favorite person ever). I took her to the Mass General Hospital ER the next day at the Doctors there said she was okay but suffered a moderate concussion and should be okay.
You know, this disease totally blows. She wouldn’t have fallen if she were healthy.
(Writing this down because my memory sucks and I might need to remember it one day down the road).
- Batten Candles and “Cure Batten Disease” bracelets go on sale 5/18/11 (Rachel’s 11th Birthday).
- We’re doing another lemonade stand for a cure on 7/4/11 and I’ll accept paypal donations for people who don’t live nearby but want to help fund research for Rachel’s disease.
Email me if you want to help with any of our fund raising efforts, all money goes directly to the BDSRA for Batten Disease Research.
Here is a link to her facebook “wish” – raising $500 for Batten Disease Research! http://wishes.causes.com/wishes/286685