A Camdenton family is seeking donations for the May 17 Angelman Syndrome Foundation Walk, a fundraiser supporting a cure for the rare disease.
A Camdenton family is seeking donations for the May 17 Angelman Syndrome Foundation Walk, a fundraiser supporting a cure for the rare disease. Dr. Tim and Rebecca Bartlett and their family have been participating in the walk since their daughter Eliza was diagnosed in 2005.
This year, the Bartletts will be taking part in the ASF Walk in St. Louis — one of 30 walk-a-thon fundraiser across the country. Their goal is to raise $5,000 to support research into Angelman Syndrome, caused by a missing Maternal Chromosome 15.
While there is no known treatment for AS, there are ground breaking research efforts that have revealed a possible cure. A reversal of the disease has been successful in the mouse model and researchers are working on translating this into humans, according to Rebecca.
A dentist, Tim retired from the Navy after 30 years in the service. In addition to Eliza, he and Rebecca have a daughter Hattie, 13, and a son Glenn, 10.
While Eliza was born with Angelman Syndrome, she was not diagnosed until after she turned three. She is now 12 years old.
All three children attend Camdenton R-III Schools.
Because of the genetic abnormality — which affects just 1 in 15,000 live births — Eliza can't talk and struggles to do the same things as other kids her age. She has trouble walking and has a hard time sitting still.
Eliza can't use sign language to communicate as she lacks the fine motor skills to sign with her hands, or to hold a pencil. But that doesn't mean she doesn't know what's going on, says Rebecca, and she still finds ways to communicate though it can be a struggle.
Angelman Syndrome is also typified by frequent laughter or smiling and short attention span.
Regardless if Eliza doesn't feel good, she will laugh, though her parents have learned to tell how she's really feeling through the different sounds of her laughter.
While Angelman Syndrome is often misdiagnosed as autism or cerebral palsy, people with AS actually have a fascination with water and know no danger, requiring constant supervision and life-long care.
Eliza also suffered from seizures for many years until a therapeutic study found a vitamin and supplement combination that helps limit the seizures. According to Rebecca, Eliza hasn't had a seizure in more than three years.
Eliza has participated in many research trials over the years, and the Bartletts are excited about what the future holds for her.
The Bartletts moved to the lake area last year to be closer to Rebecca's parents, Dave and Sue Boone of Gravois Mills, and to find a good school where all of their children could go.
According to Rebecca, Eliza's teachers at Camdenton have been great and Eliza loves attending school where she's made many friends.
The Bartletts were excited to move to the Lake of the Ozarks after years of weekend and summer visits. They have been supported by the lake community in the past with help from the Boones, says Rebecca.
The family has deeply appreciated the donations and help from the community, and asks for continued support as researchers work toward a cure for AS.
For more information on Angelman Syndrome and to find the Bartletts' fundraiser and story pages, go to the Angelman Syndrome Foundation website, http://www.angelman.org. To donate towards research in Eliza's name, click on Walk and then enter Eliza Barlett in the Fundraiser Search bar.
To go directly to Eliza's page, enter http://secure.angelman.org/index.cfm?fuseaction=donorDrive.participant&participantID=20242
The Our Story page and link to the team roster can be found at http://secure.angelman.org/index.cfm?fuseaction=donorDrive.team&teamID=6778