It’s a hot summer day in Salt Lake City and Amanda Baldwin is looking for some shade. The 21 year old and dozens of others have endured the noon day sun to walk around the track at Valley View State Park. They’re all participants in the Williams Syndrome Walk, an event designed to raise money for the Williams Syndrome Association, but most importantly it gives people like Amanda and their families a chance to connect.
Amanda's friend explains, "I think Amanda is the best, and kids with Williams syndrome are always generous and loving. Yeah, Williams syndrome is pretty tight."
At just under 5 feet Amanda has the elfin features that make a person with Williams syndrome easy to spot: the high forehead, low cheek bones, a delicate upturned nose, and full lips that frame a set of widely spread teeth. She talks at a rapid pace. People with Williams syndrome tend to excel in their verbal skills and because they’re so socially uninhibited, they have an uncanny way of making people happy. But the rare genetic disorder can cause hypersensitivity to loud noises, heart defects and cognitive delays.
Amanda says, "Yeah, like I tell people and they're like I’m so sorry, it’s like you don’t have to say you’re sorry I’m not dying, I’m not in the hospital dying. I mean I could understand if something happened with my heart again, I could understand that but when I tell people and they're like what is that, I’ve never heard of that, I’m so sorry, Don’t say you’re sorry. I’m fine. I’m just a little bit different than everyone else."
Williams syndrome is caused by missing genes that are so small they cannot be seen by a microscope. That’s why the syndrome is relatively new. Detection of Williams syndrome was virtually impossible until the 1960s.
"We know that there are at least 22 genes missing. One of them is the elastin gene which is related to the supporting tissue of the heart that’s the basis of the heart problem and these missing genes have effects on the brain and learning."
That's Dr. John Kerry, who is what you could call an expert in genetics. He’s the editor-in-chief of the American Medical Journal of Genetics, and as a pediatrician, he diagnosed a number of children at the Williams Syndrome Walk.
One thing that has fascinated Dr. Kerry is the learning profile of people with Williams syndrome. Their differences in academics and development are more unique than any other syndrome or genetic disorder out there. Dr. Kerry says they all seem to have the same similarities in strengths and weaknesses. But the genetic reason behind the learning profile has eluded researchers.
"What we don’t know for sure is what gene or genes when missing are the reason for the cognitive profile. There's some theories about it but we don't know for sure and there's other DNA missing in addition to these 22 genes that may contain genes that we haven't even discovered yet."
When a child is diagnosed with Williams syndrome, a certain, nagging thought is never far from the mind of their parents. What will adult life be like for my child and can they ever be fully independent? This was an especially large concern for Kerry Sharp, whose son was born at a time when even the medical community had a hard time answering that question.
"Oh yes, it was very scary and you didn't know what to expect. Because at the time they said they didn't live very long, so you got the impression he wouldn't have a very long lifespan which we know now that they do."
Sharp's 33-year-old son Jeremy is the oldest participant at the Williams Syndrome Walk. He's an enigma in the group of mostly toddler or young adult participants.
"I mean he still has that juvenile enthusiasm for things but you don't have to do the constant watching, so doing things like Disney on Ice or Disneyland it's like having a young child without having to chase them so it's kind of a plus plus."
Like other adults with Williams syndrome one of the biggest challenges for Jeremy is finding an appropriate job where he actually felt successful. So, with a little help from his mom, Jeremy has a job as a reading aid at West Jordan Elementary where she's a 1st grade teacher. The kids absolutely love him.
"They don't feel the pressure or the stress. It's more like reading to a buddy, so they will read and do things for him that they won't do for my parent volunteers or for the teacher."
It's a hot summer day in Salt Lake City and Amanda Baldwin has spotted a shady pavilion, but before she leaves she gestures to her 18-year-old brother Robert and his friend Weston Cowley. They all leave the track together.
Her brother says, "In reality, I don't think it would be much different than having any other sister. The only thing I don't like is that she feels like she feels like she can't do stuff because she has Williams syndrome when I feel she can do anything any of us can do."
Cowley adds, "Yeah, I don't think it's a syndrome. I think it's like Amanda, that's what it's called, Amanda.