May 17

May 17 Families share impact of Williams syndrome

Mason Elliott and his mother, Shannon. {Contributed photo}

Each May, families who are impacted by Williams syndrome around the world gather to celebrate their children and loved ones, to increase awareness of this unique genetic condition and to raise necessary funding for programs and resources that will help ensure brighter futures for those diagnosed with the disease and support for their families. The designated awareness theme this year, 2021, for Williams syndrome was chosen to celebrate and recognize one specific quality of those with the condition: their wonderful ability to connect with everyone they meet. In the times in which we seem to live, that is certainly something special, beautiful and worth celebrating!

Two Davidson County local mothers, Shannon Elliott and Ashley Hicks Carroll, each who have a child diagnosed with Williams syndrome reached out to share their personal stories and to raise awareness of WS.

Ashley Hicks-Carroll, with daughter Charlotte Carroll

Both of these mothers explained WS is caused by the spontaneous deletion of 26-28 genes on chromosome #7 at the time of conception. Elliott and Carroll continue that although the spectrum is broad, and characteristics do vary individually, there are traits typically seen in someone with the diagnosis. Physical features include a small, upturned nose, short stature, wide-spaced teeth or other dental problems, full cheeks, starry pattern in eyes, broad nasal bridge, puffy eyes, thick lips and a wide mouth. When asked about the challenges people with WS may face, Elliott and Carroll list cardiovascular and/or musculoskeletal issues, mild-to-moderate intellectual and developmental delays, elevated calcium levels, an awkward gait, hyperacusis, kidney abnormalities and spatial issues as commonly-shared difficulties. Common personality attributes are also shared amongst those with Williams syndrome. Some being amazing and remarkably beautiful, including outgoing, engaging personalities and the tendency to take an extreme interest in other people and even a love for music. Carroll declared, “Most individuals diagnosed with Williams syndrome are super friendly and a joy to be around. They have been referred to as the elfin-like syndrome or the cocktail party syndrome due to their jovial personalities and short stature.”

After learning about the commonalities of those with Williams syndrome, Elliott and Carroll openly shared their own unique stories of their beautiful children and exactly what life with their families looked like. The similarities and the differences.

Elliott tells her story, “When I found out I was pregnant a million things went through my head. There were no warning flags during my pregnancy. All tests came back great and I had no health issues. So, there was no cause for concern or worry.” Mason, Elliott’s son, was born two weeks late, but yet he weighed only five pounds, 14.5 ounces. “Mason was born with the most mesmerizing blue eyes and a full head of dark hair. His eyes seemed to have a starburst inside them. Completely gorgeous and everyone told me he looked like a baby doll!” It was said that the doctors overlooked Mason’s small size, but he wasn’t growing as expected and he wasn’t meeting the typical milestones. Elliott continued, “Around six months, our pediatrician decided we should see a genetics doctor.” After many tests, the results concluded that Mason was diagnosed with Williams syndrome. When asked about her feelings at that moment she said, “That’s when my life was flipped upside down. What in the world is this, and what did it mean for my child?” Elliott added that doctors immediately started running tests on Mason’s heart, checking his kidney function and a lot of bloodwork was ordered. “Other than the Williams diagnosis, fortunately Mason was checking out to be okay.” Mason began receiving occupational therapy and physical therapy in effort to get him started in the right direction, but Elliott notes “something still wasn’t exactly right.” She watched as her baby boy would roll into a ball and scream multiple times a day. Recommendations from doctors advised it was just gas. Undoubtedly, her mother’s intuition knew it was more. After some motherly research, Elliott pressed the pediatrician to test her son for “infantile spasms.” She was told it was rare and very unlikely. However, Elliott insisted on the tests being run. Her persistence paid off. Mason was admitted to Brenner's Children Hospital where it was determined to, in fact be, infantile spasms for which there was no cure. “Well, I wasn’t taking that for an answer. I did my own research again and found an experimental drug out of Canada that was being tested for these types of seizures. After confronting the epilepsy board at Brenner’s, they agreed to try the medication for three months. After one or two doses, Mason completely stopped. We weaned him off the medication, and that nightmare was behind us.” She explained, unfortunately, since those seizures had gone undiagnosed for three years, the damage caused to Mason’s brain was irreversible. Mason currently attends South Lexington Developmental Center. He is almost 17 now and weighs approximately 70 pounds and is 4’7” tall. Elliott offered, “Mason is nonverbal and severely delayed. He’s not potty trained. He has no fear of strangers or any dangers for that matter. Mason suffers from extreme anxiety and is constantly rocking or stemming. He loves music and is constantly walking around with a toy to his ear. Lights will catch and keep his attention for hours. He hates loud and unexpected noises.” Mason has check ups yearly for the calcium in his kidneys, his heart is closely monitored and he continues to participate in occupational therapy. “I have no idea what the future holds for Mason, but I know who holds the future and that’s what I hold on to.” Continuing she said, “What I would give to hear him say mom or I love you. Things parents take for granted I pray for.” Because of Mason’s severe developmental delays, Elliott says she and her husband, Chris Elliott, will be seeking guardianship of Mason before his 18th birthday. “As a society, we need to teach our kids that different isn’t always bad. You can’t catch someone’s disability, so don’t be scared. We need to focus on abilities! Mason doesn’t know what discrimination is, he doesn’t judge, all he knows is to love unconditionally.”

In 2007, Elliott became pregnant with their daughter, Riley. She said it was unplanned, as she had already decided that Mason would require all of her attention. Naturally, she was scared. “How would I show love to another child, but make sure Mason had all of me? Little did I know, God had it all planned out.” From the very beginning, Riley has been the most selfless child and has put her big brother’s needs above her own. “She loves him, protects him and is unashamed of her brother. If you don’t accept him, then you don’t accept her. I couldn’t see God's masterful plan, but he knew exactly what he was doing. He was equipping Mason with another mom who looks over him and truly cares about him. Their bond can’t be explained.”

After hearing Elliott's story, Ashley Hicks Carroll related hers. The two stories seem to start off with many similarities. Like Elliott, Carroll also remembers her pregnancy being wonderful and never a moment’s issue. Carroll was induced and delivered her daughter, Charlotte, on January 29, 2013. Charlotte weighed five pounds, seven ounces. Carroll recalled, “When she was born, I noticed she looked a little different, but I thought it was due to her small size. She was feisty and strong.” Charlotte was carefully examined by several pediatricians, several times, and everything checked out great. “We headed home and settled in as a family of four.” At five-weeks-old, they were told Charlotte developed RSV [Respiratory syncytial virus]; Charlotte then spent a week and a half at Thomasville Medical Hospital. Once well, they returned home and resumed life as normal. “She was a fussy baby and had many reflux issues. Weight gain was an issue and sleeping wasn’t always easy.”

Over the next two years, Carroll explained the struggles they faced and the many procedures Charlotte would endure, both with anesthesia and laser treatments. This included laser surgery to her upper lip for a hemangioma, ear tubes and her adenoids and tonsils being removed. They even flew to NYC to a birthmark specialist twice to have Charlotte’s lip “debulked and reconstructed” due to the hemangioma. Charlotte did not hit her milestones on time and Carroll said they attributed it to the amounts of anesthesia and the procedures to her lip. Charlotte had some complications recovering after some procedures, and Carroll explained, “Little did we know, anesthesia can be lethal for people with Williams syndrome.”

Since Charlotte wasn’t hitting her milestones, she received therapy through the CDSA. In addition to PT, she did play and occupational therapy. “I vividly remember the day my coordinator sat me down and encouraged us to have our daughter genetically tested. I remember almost dying inside. How could anyone think something was wrong with my child? I told her my daughter was just fine and that she is just struggling to catch up. I cried that day knowing she was probably right, but I refused to let myself believe it. Denial is a terrible thing.”

Carroll said when a child turns three, s/he leaves the CDSA and enters the school system for his or her therapies. “I remember the day my husband and I took her to the [Palmer House] to be evaluated by a team of people. I was sick to my stomach and prayed they would tell me everything was fine. Their findings were that our daughter was globally delayed. This means she was delayed in many areas. It’s a terrible thing to hear that your child is different and labeled as slow. It was a really dark day, but not the darkest.” A few weeks later, Carroll received a Facebook message from a lifelong friend and a mother of a son with Williams syndrome, encouraging her to look into WS as a possibility for Charlotte. Although Carroll didn't want to consider it, she decided to contact Charlotte's pediatrician. “Even after hearing all of the reasons why, I still didn’t believe anything was ‘wrong’ with my girl. But, we decided we would follow through with the genetic testing just to rule it out.” After meeting with the genetics team at Baptist Hospital, Charlotte was tested, measured and examined. Carroll recollected the genetics doctor examining Charlotte and saying, “I'm almost positive the test will show she has Williams syndrome; she just has those unmistakable eyes.” She continued, “He handed us a bunch of literature and told us they would be in touch. I had never felt so scared in my life.” About a week and a half later is when she received the call that confirmed Charlotte did in fact have Williams syndrome. When asked about her feelings at that moment, Carrol admitted, “I don’t really remember much of what was said after that. I just remember thinking I would never see my daughter in a tutu and she would never be a cheerleader like me. Shame on ME!” The next few days, Carroll became obsessed with researching everything about Williams syndrome to gain insight and all the possible knowledge in preparations for their “new life.”

“I spent many months after the diagnosis day being numb. It’s the only way I knew I could continue to function for my son. If I can't feel, then I can keep it together. When in all actuality, I was dying inside.” The months following were full of new appointments, heart doctors, kidney doctors, dentist and eye appointments. Carroll expressed, “Thankfully, Charlotte has only mild health issues and struggles more with development and cognitive delays. Our family had a new normal but one thing that never changed was Charlotte. She was still the same little girl who stole all of our hearts. She was still my fun-loving daughter who adored her big brother and stole the show when she entered a room. Even though the medical field slapped a label on her and added a list of expected limitations – SHE DIDN’T CHANGE! It took me forever to realize this, and when I finally did, game on! I found a greater purpose to my life and began to use our story to help others.”

Charlotte is now eight, and five years have passed since being diagnosed with Williams syndrome. When asked what Charlotte’s daily life is like these days, Carroll shared, “Charlotte is moving mountains. She spent the first two years of school at Stoner Thomas. She did very well there and is now in a life skills class at Brier Creek. She did take her first dance class and I did in fact see her in a tutu. Charlotte absolutely loves music, and when a song comes on she likes, she closes her eyes and you can tell she feels it in her soul. She also loves Chick-fil-A and shopping at Target. She loves Star Wars and her dogs, but nothing compares to her big brother, Reece!

“Charlotte struggles a tremendous amount with anxiety and obsessions. Right now, she is obsessed with the car wash, so we are keeping pretty clean cars these days. Charlotte is just like any other eight-year-old. She has many challenges and struggles due to Williams syndrome but it does not define who she is.”

Carroll opined, “I truly believe awareness is key to rare disorders such as Williams syndrome. If you remember, it wasn’t a doctor who told us, it was a mom. A mom who knew, and one who was brave enough to share it with me before the next surgery went wrong. The more we know and the more we share, the better off the next family will be!”

Williams syndrome is extremely rare. Most people who aren't affected personally know little or nothing about it at all. That needs to change. May is "officially" Williams Syndrome Awareness Month. But, these two loving mothers and family members of others with WS around the world are working to raise awareness 365 days a year for their beautifully-spirited loved ones. To find out more information or to find out how to personally help spread awareness, visit williams-syndrome.org/events to join or to organize a local event.