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HEALTH MATTERS: What you should know about Williams syndrome

Shock waves went through the hearts and minds across the nation when the tragic shooting was announced on April 10, about a special education teacher, Karen Elaine Smith, and two of her third-grade students at North Park Elementary School in San Bernardino.

Smith and Jonathan Martinez, an innocent bystander, did not survive their gunshot wounds. Martinez’s classmate, Nolan Brandy survived. Smith was targeted by her estranged husband, who died from a self-inflicted gunshot wound.

Martinez, 8, instantly became the face of a little known genetic disorder, Williams syndrome also known as Williams-Beuren syndrome. While his life was plagued with several heart surgeries because of the Williams syndrome diagnosis, Martinez’s teachers and the North Park staff remember him as a happy child with an engaging smile that would light up a room.

May is Williams Syndrome Awareness Month, designated in 2010 by the Williams Syndrome Association to educate people about a genetic condition that is present at birth and can affect males and females from any background or ethnicity. According to the association, the syndrome is characterized by medical and cognitive problems, including cardiovascular disease, developmental delays and learning disabilities along with striking verbal abilities, highly social personalities and an affinity for music.

The Williams Syndrome Association reports that one in 10,000 people worldwide, an estimated 20,000 to 30,000 people in the United States, have Williams syndrome. Parents of children with the diseaseoften share the unimaginable joy that their children bring into their lives in spite of their disorder. The Martinez family described their only son Jonathan as being “such a joy and a miracle.”

There is no cure and no known method to prevent Williams syndrome.

Common features include: anxiety, cardiovascular disorders, dental abnormalities, developmental delays, feeding problems, hernias, hyperacusis (sensitive hearing), hypercalcemia (elevated blood calcium levels), kidney and gastrointestinal disorders, learning disabilities, low birth weight and slow weight gain, musculoskeletal problems and similar facial features

In memory of the Martinez student and to raise the genetic disorder awareness, cities across the nation will host the annual Walk for Williams on May 20. The Martinez family believes that increased awareness of Williams syndrome nationwide would be the best possible legacy for Jonathan.

Williams Syndrome Association

The journey to San Bernardino began when baby boy Martinez was born and diagnosed in Mexico. As told by his dad, Alfredo Martinez, “I traveled back and forth to Mexico for three years while waiting for my wife Florinda to get the documents she needed so she could bring Jonathan to the states.”

Martinez’s heart surgery was performed in California soon after they arrived.

“We were very frustrated with the schools because Jonathan’s teachers didn’t understand him or know how to teach him,” Alfredo Martinez sad. “This is our main reason behind wanting more awareness.”

Another family shared their experience. “Ben’s diagnosis came at age six weeks – the time of his first heart surgery,” said Terry Monkaba, director of the Williams Syndrome Association in Michigan and the parent of a 31-year-old with Williams Syndrome. “We were spared some of the grieving that many parents go through upon diagnosis. We were elated that Ben had survived a 12-hour surgery for which he was given one chance in 100 for survival.

“Diagnosis was the least of our worries, and as Ben got better and his smile began to light up the room, that was all we needed – we knew he would be okay and so would we.”

It has been a challenging life’s path for the Monkaba family as she talked about Ben’s severe cardiovascular issues.

“He has had five major cardiovascular procedures, spinal fusion for severe scoliosis and a colon perforation due to diverticulitis,” she said. “He has only one kidney and when he reached adulthood, he developed the gastrointestinal and anxiety issues that are common to Williams syndrome.”

Ben exhibits the classic cognitive issues and copes by participating in several hours of therapy (OT, PT Speech, Music Therapy) from the time he was released from the hospital at 4 months old until he started grade school and continued through high school.

The bright side of the classic symptoms is Ben’s gifts of being social and charming.

Monkaba says, “Ben loves to be around people. His first words were the phrase, ‘Hi! How you,’ at 18 months of age and he hasn’t stopped greeting people since

She adds: “Ben is highly verbal and quite musical. He is a vocalist and an accomplished drummer — more comfortable with a mic in his hand than many professionals.”

The annual Williams Syndrome Walk means a great deal to Rebekah Pagis, walk coordinator for Boston and mother to 3-year-old Joachim, who has Williams syndrome.

“Each of the local walks across the country will give the Williams syndrome community a place to gather for a good cause and pay tribute to the Martinez family’s wishes,” Pagis said. Thirty-six cities and thousands of walkers across the United States will participate in various events to support Williams Syndrome.

Pagis shares her story about their son.

“My husband and I are one of the lucky parents who have a joyful, happy, spunky little Williams Syndrome individual,” she said. “At our 3-year-old son, Joachim’s six-month checkup, the pediatrician heard a heart murmur and referred us to the Boston Children’s Hospital cardiology unit.”

What happened next threw the Pagis family for a loop.

She recalls, “At a five-hour appointment, they told us they ‘thought’ he had Williams Syndrome but would need to run what is called a FISH test to confirm. He was going to need a heart procedure right away and would have a lot of challenges in his life, including developmental delays and learning challenges.”

Like most people, the Pagis family had never heard of Williams Syndrome.

“We were terrified about what it meant for our son, but Joachim has shown us the way,” Pagis said. “His energy, joyfulness, humor and love of life makes every single day brighter and matter that much more.

“We have turned all of our fears into trying to raise awareness to improve his life and the lives of all the special individuals with Williams Syndrome.”

Resources:

Williams Syndrome Association – www.williams-syndrome.org

Genetics Home Reference – www.ghr.nlm.nih.gov

Healthline – www.healthline.com

WebMD – www.webmd.com

Marie Y. Lemelle, MBA, a public relations consultant, is the owner of Platinum Star PR and can be reached on Twitter @PlatinumStar or Instagram @PlatinumStarPR. Send “Health Matters” related questions to healthmatters@wavepublication.com and look for her column in The Wave.

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