Local families raise money to fight rare genetic disorder
August 18, 2010
By Tara Sackman
Three years ago, Claire Benn was born. A week later, she was diagnosed with Prader-Willi syndrome.
“We didn’t know what the diagnosis Prader-Willi meant, so the lack of knowledge was very scary,” said Claire’s mother, Cari Benn.
Prader-Willi is a random, non-inherited genetic syndrome that affects the 15th chromosome.
Claire Benn goes to the beach with her family. Contributed
In general, children with Prader-Willi are characterized by having low muscle tone and a body that constantly demands food — even if it’s not necessary.
Claire’s parents had never heard of the syndrome before, so they set to work educating themselves on what the diagnosis was going to mean for their family.
“One of the challenges of the syndrome is that kids have a common diagnosis, but what families are going through varies,” Cari Benn said.
Since Claire was born with extremely low muscle tone, she was not able to even flop her head from side to side or eat on her own. As a result, she was on a feeding tube for three months.
That was actually good news, because doctors had expected Claire to be on the feeding tube for a full year.
Another Sammamish child, Abby Johns, has Prader-Willi syndrome as well. Abby is almost 5 and was diagnosed at five weeks old.
When Abby first started eating solid food, her mom noticed something peculiar.
“She would eat as long as I would feed her,” said Marie Johns, Abby’s mother. This was when they first noticed a difference in Abby’s food habits.
Unlike some children with Prader-Willi, Abby has more muscle tone than some her age, but she is still not talking.
Dealing with the disease
Low muscle tone in children can cause them to be constantly tired and sit up, crawl and walk later than most children.
From age 2 to 6 children’s appetites can become almost uncontrollable, and their metabolism slows down. At this stage, children may start to seek out food even after eating full meals. Some families have had to lock up their cabinets to stop the children from overeating.
“From the beginning we were able to teach her about healthy eating,” Benn said.
Since Claire was diagnosed so early, her parents were able to condition her around food and closely monitor what she eats. Claire eats around 1,000 calories a day because of her decreased metabolism, whereas most 3-year-olds eat about 1,400.
Most children with Prader-Willi take a daily growth hormone to help build muscle tone and have therapy to treat other symptoms. Both Claire and Abby take the hormone.
Claire is taken to speech and occupational therapy to help her enunciation. Abby also goes to therapy where she learns tasks that help her be a normal child.
“She doesn’t know how to play,” Johns said. “She has learned how to take the caps off the markers and draw on herself though. We had to tape them shut.”
At therapy Abby practices playing with toys, making eye contact and other forms of communication since she has not started talking yet.
“You would never know looking at her that there was anything wrong. She’s a happy little girl, she likes to smile, laugh, and climb things,” Johns said. “She also likes to run in halls. If you go to a hotel, she’ll take off running.”
The Johns’ family has six children and Abby is the youngest.
“Thank goodness there’s so many of us. It takes all of us to keep track of her,” Johns said.
Fighting back
The Benn family has taken steps to get involved with the Foundation for Prader-Willi Rearach and Claire’s father is now on the board at the Kindering center, a center that provides care and services for children with special needs.
On Sept. 4, Benn will be leading a walk with dogs in Marymoor Park to raise money for research about Prader-Willi. The fundraiser is open to all and will take donations.
As a family, the Benn’s have become more active to set an example for their child and closely monitor what Claire eats. She is constantly interacting with her peers because children with this syndrome tend to miss out on interaction as a result of being so tired.
Claire is still very young and not completely aware of what is going on with her body. Benn said that Claire is starting to notice that she is a little slower than many kids her age.
“Sometimes Claire gets a little upset, but she’s a happy, easy, bright kid,” Benn said.
In the future, Benn hopes that Claire will be able to live a full and happy, normal life.
“At first we were told that she would never be able to live on her own, but I don’t think I believe that anymore,” Benn said.
As far as Abby is concerned, with so many kids in their family, the Johns sometimes cannot take Abby every place they would like to because she is not able to focus on the activity, but they try their best to do activities that the whole family can enjoy.
“All the kids love her, I’m blessed. It’s very rewarding to have her in our family, but at the same time it’s a lot of work,” Johns said.
Get involved
The dog walk to raise funds for research into Prader-Willi Syndrome is scheduled to start registration at 9:30 a.m. Sept. 4 at the Marymoor Park south shelter, near the dog wash.
The event will also have food, music and children’s games.
There is a suggested donation of $20 per person or $40 per family.
Reach intern Tara Sackman at samrev@isspress.com.
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