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.…

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
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