Some diseases and disorders are so well known that their names, their symptoms and even their fundraising events are household words.
Angelman syndrome is not among them -- even in the medical community.
If you goWhat: Angelman Syndrome Foundation National Walk -- Chicago
When: 10 a.m. Saturday, May 17; registration begins at 8 a.m.
Where: Word of Life Lutheran Church, 879 Tudor Ave., Naperville
The neuro-genetic disorder affects about one in every 15,000 American children. Because it shares characteristics with autism and cerebral palsy, about half of the people ultimately diagnosed with Angelman syndrome are misdiagnosed initially.
Children with Angelman syndrome have delayed physical development and limited speech development, traits shared with children with autism and cerebral palsy. And like those with cerebral palsy, children with AS have unsteady movement and difficulty with balance.
The disorder carries a host of characteristics. Some, like seizures and slower-than-expected head growth, affect as many as 80 percent of children with Angelman. Others -- like excessive drooling, abnormal sleep cycles or a fascination with water or crinkly items like paper -- occur much less frequently and can make diagnosis more challenging.
A key mission for the Angelman Syndrome Foundation, based in Aurora, is raising awareness of the disorder among parents searching for answers and medical staff troubled by characteristics and behaviors that don't quite fit with a more common diagnosis. The ASF National Walks seek to raise awareness while raising money for research into treatment and potential cures for Angelman syndrome. Walks are planned in 30 cities on Saturday, May 17.
When the ASF National Walk-Chicago steps off in Naperville, resident Alan Knotek and his grandson, Gavin Staab, will be among the walkers, surrounded by friends and family. Gavin, 3, was diagnosed with Angelman syndrome last year and is coming from his home in Iowa to participate.
Today Alan Knotek tells us more about his family's experience with Angelman syndrome.
Q. Who inspires you to participate?
A. My 3-year-old grandson, Gavin, was diagnosed with Angelman syndrome last year. Since his diagnosis, I have felt a responsibility to raise awareness of this disorder and support efforts to fund research and services for individuals with Angelman syndrome and their families.
Q. How have you been affected by Angelman syndrome?
A. Prior to Gavin's diagnosis, my family and I were unaware of Angelman syndrome. It was difficult to watch his parents struggle to find answers to why Gavin had trouble communicating and sleeping and experienced certain developmental delays. His diagnosis helped our family answer these questions and develop strategies to support Gavin's development.
The responsibility weighs heavily on Gavin's parents, my daughter and son-in-law, Julie and Jeff Staab. As a member of Gavin's support team, through the difficult times and celebrations when he meets his developmental goals, it has been an emotional journey, a transformation. Once the "rock" of the family, I am now a big teddy bear.
Q. What support have you received from the Angelman Syndrome Foundation?
A. From the beginning, the ASF has been a resource for our entire family. Eileen Braun, ASF executive director, was a guest speaker at the March 2013 meeting of the Noon Lions Club in Naperville. During her presentation, I said to myself, "This is my grandson!" Coincidently, Gavin was undergoing genetic testing and soon would be diagnosed with Angelman syndrome. I was thankful to have heard Eileen's presentation and I passed along this information to my daughter and son-in-law.
Eileen, also a parent of an individual with Angelman syndrome, has met with Julie and other members of our family numerous times and we've had countless telephone conversations. Gavin is also a recipient of the ASF's iPads for AS program, which provides iPads to be used as communication devices for individuals with this disorder.
The ASF provides programs, information and support to help our family today. As the largest nongovernmental funder of Angelman syndrome-related research, the ASF's role in funding research gives individuals with this disorder and their families hope of a bright and promising future.
Q. Have you ever done this walk before and, if so, what was the experience like?
A. This will be my first ASF National Walk. I am looking forward to being with Gavin and other family members and friends, and meeting with other families of individuals with Angelman syndrome.
Q. What would you tell someone who is interested in participating but might be the slightest bit hesitant?
A. This event is a great opportunity to be a part of a national effort to raise awareness of a relatively unknown disorder. The ASF National Walk started in Naperville in 1999 as a single walk site and since has grown to more than 30 walk sites across the country. The walk has changed countless lives -- something our community should be proud of and come out to celebrate.
Q. How can readers donate to your fundraising efforts?
A. To learn more about the ASF National Walk or to make a donation, visit angelman.org/walk.