Most parents have to teach their kids how to properly greet people — to stand up before saying hello to someone who’s entered the room, to shake hands with the new neighbor, to hug relatives who’ve come to visit.

Children with Williams syndrome will perform these friendly acts naturally, and willingly, while making each person they’re greeting feel like the man of the hour.

On the Williams Syndrome Association (WSA) website, www.williams-syndrome.org, Williams is described as a “genetic condition that is present at birth and can affect anyone. It is characterized by medical problems, including cardiovascular disease, developmental delays and learning disabilities. These occur side by side with striking verbal abilities, highly social personalities and an affinity for music.”

Affecting 1 in 10,000 people worldwide (and an estimated 20,000 to 30,000 people in the U.S.), Williams is caused by “the spontaneous deletion of 26 to 28 genes on chromosome 7,” according WSA.

“The deletion occurs at the time of conception,” and it’s completely random, having nothing to do with “anything the parents did or did not do either before or during pregnancy.”

A child with Williams is usually the only one who has the condition in his or her extended family, according to WSA. “However, the individual with Williams syndrome has a 50 percent chance of passing the disorder on to each of his or her children.”

Some refer to Williams as the opposite of autism because, “unlike (such) disorders that make connecting with your child difficult, children with WS tend to be social, friendly and endearing,” according to WSA. “Parents often say the joy and perspective a child with WS brings into their lives had been unimaginable.”

Such is the story of Mandy Keep and husband Jim Buehler of Collegeville. Keep, a mother of two and a local photographer is originally from England and moved to the U.S. only seven years ago. The title of her blog, which she created to chronicle son Max’s journey, says much about who she is, a person who strives to find peace and joy in her life.

It’s called “My Beautiful Life with Williams Syndrome”. “He is an inspiration to us as parents, to learn to be better parents for him for the extra needs he has,” Keep wrote in an email.

“Life with Williams” is all very new to their family, as Max is only 20 months old and was just diagnosed at 15 months of age.

“Max had a heart murmur at around 3 or 4 months old,” Keep explained during an interview. “The doctor said it may be a hole in the heart, it may be nothing to worry about — go to a cardiologist.” Baby Max went through various tests, and “probably six to eight months later … they saw facial features and ran a FISH test,” Keep said.

The majority of individuals with Williams syndrome have some type of heart or blood vessel problem. Additionally, children with Williams usually share similar facial features, including a small, upturned nose, long upper lip length, wide mouth, full lips, small chin and puffiness around the eyes, according to WSA. Genetics clinics can issue a precise order for the FISH (blood) test for the deletion of elastin on chromosome 7 to confirm or rule out Williams syndrome.

 

 

 

“In the beginning I was dumbfounded,” Keep said. “I didn’t know what Williams was, I had no concept of it. I thought it was something that could be fixed. As a mom, you just (think) that everything can be fixed to a certain degree. I felt upset, I cried instantly, knowing that something was wrong.

“Then I just — you read things but it still doesn’t sink in until time goes by and you read more and more, look at pictures … and now I’ve got a grasp of it; I know what it is,” Keep said.

As a new “Mum” again with 4-month-old Gage, Keep said she has a tough time managing all that she’s been handed. But Max is “a gift from God,” she said, adding that she can’t complain about his condition — parents want “nothing more than the love and embrace of a child wanting to hug you all of the time.”

The birth of Max led to the birth of his mother’s photography. Keep was a professionally-trained artist (painter) who found herself wanting to take pictures of her family’s new addition. He’s the reason she created “a blog of hope” that not only acts as an online journal where she can post his development but also as a place to “accept” and to “look on the bright side.”

And Max is behind Keep’s vision to launch community photo projects. First, in July she positioned 38 newborn babies into a peace symbol and photographed it. She said it was a “political statement,” that “peace and love are about the children.”

More recently Keep had an idea to embark on another project about love in time for Valentine’s Day. And after learning of Max’s diagnosis in July, she wanted to tie that into the project.” I think of love as giving — how can I help others to achieve, bring that love into the air?”

Her answer is the Sweet Hearts photo shoot, which will take place Jan. 21 from 9 a.m. to 4 p.m. at Collegeville Fire Company, 29 E. Fifth Ave., Collegeville. Keep will photograph, by appointment only, children playing in and around a custom-built house of sweets.

All proceeds from the shoot will go to charity. The fee for an electronic image will be $30 per child, $20 of which will go to WSA, and $10 to the charity of the donor’s choice.

Materials for the project were donated by Home Depot, and Simon Eastmure of Eastmure Custom Homes in Collegeville donated his time and services as the architect and builder. Sponsors include Risher Van Horn Florist and Wojton’s Nursery in Collegeville, Frankford Candy of Philadelphia, Mary’s Christmas and Adams & Brooks Candy Company.

Keep has been busy painting the house, which will be fully furnished inside, and garnering support and donations. She plans to auction off decorative items and candy props and donate that money to WSA as well.

Through her blog, her photography and the events she hosts, Keep is constantly reaching out and networking. She craves to meet someone who can relate to her experiences, and hopes to someday be able to introduce her son to another child with this rare condition.

“Taking on the Sweet Hearts project brings me closer to people,” Keep wrote, “and there is no reward better than to give. If you give, you get back. It keeps me sane and feeling like I’m accomplishing something good, and above all, it’s something fun for the children. We are all children at heart.”

While the event is just one way for Keep to “bang pots and pans and get awareness out there” about Williams, she said it’s also rewarding to be able to encourage others to donate to a charity of their choice.

No two individuals with Williams have exactly the same problems, according to WSA. Max has a heart condition and suffers from gastrointestinal problems. According to his mother he also lacks understanding in certain areas and has demonstrated motor skill delays.

Early intervention is helping though, and Max has shown significant improvements in the few months he’s been seeing four therapists (occupational, physical, speech and special) a week, Keep said. “After a week of physical therapy he was already taking two steps.”

According to WSA, “despite the possibility of medical problems, most children and adults with Williams syndrome are healthy and lead active, full lives.”

Keep said she sees her son’s condition as “borderline,” that his heart condition and developmental delays are “mild. I don’t know how it’s gonna affect him, if will get worse or remain mild.

“There are some very sad times living with Max — disappointment, frustration, guilt, thinking the worst ever happening — any mother of any child can relate.”

Yet, the happy times are so joyous. “As soon as you meet him, you would see that (the friendliness that is prevalent in kids with Williams),” she said. “He’ll give a hug, a smile — he’s cute, cute, cute as pie.”

Contact Mandy Keep by emailing mandykeep@live.com.

Online:
http://mybeautifullifewithwilliamssyndrome.blogspot.com