By Melissa Billie Clark
Through a mother’s eyes, all she wants is to see her children happy, healthy, and smiling. For the Filipazzo family, this has been their goal for the past thirteen years.
Camille Fortunato did not complete her full term when her son Anthony was born. He arrived severely ill and required an immediate blood transfusion. After consulting multiple specialists and receiving an autism diagnosis, Fortunato suspected something else was wrong with her son. She decided to take Anthony to a geneticist, and based on his physical features, he was diagnosed with Williams Syndrome (WS). This condition affects approximately 1 in 10,000 babies born in the United States.
As a mother, Fortunato is committed to advocating for her son Anthony and for all individuals living with WS. In May 2024, the Filipazzo family visited the State Capitol as they submitted a resolution declaring the month of May as Williams Syndrome Month.
Although WS is not classified as a heart condition, it can contribute to cardiovascular disease. In honor of Heart Awareness Month, Spring Creek Sun sat down with Camille Fortunato, who began her non-profit organization, AFG Research, in 2019.
SCS: What is Williams Syndrome?
CF: Williams syndrome has been around for sixty years, and it is caused by a microdeletion on one arm of chromosome seven, resulting in the loss of approximately 26 to 28 continuous genes. Elastin is the key gene associated with most issues in individuals with Williams syndrome. Elastin is a vital protein in our bodies that maintains our blood vessels’ openness, smoothness, and flexibility.
Due to the missing elastin, which amounts to a 50% deficiency, individuals with Williams syndrome often experience a condition known as stenosis—or a narrowing of the vessels that supply blood to the major organs such as the brain, gastrointestinal tract, lungs, heart, and kidneys. This narrowing forces the heart to work harder to pump blood effectively, leading to obstructions that impede proper oxygenation to these organs. In severe cases, particularly involving the branch pulmonary arteries, the options for treatment are limited, and these situations often lead to dire outcomes for affected individuals. However, certain procedures like stenting may be implemented in moderate stenosis cases. Unfortunately, because the vessels in these individuals are so rigid, stents tend not to function as they would in typical vessels, and there are limits to how many times an area can be stented before collapse occurs.
Individuals with Williams syndrome face an increased risk of sudden cardiac arrest when undergoing anesthesia, presenting an additional and significant challenge in managing their health.
SCS: Please explain the challenge with Anesthesia
CF: Years ago, when Anthony was first diagnosed, we didn’t have much evidence or data to understand why some children experienced cardiac arrest with the initial administration of anesthesia while others did not. This uncertainty led us to question how we could re-stratify patients and establish pre-anesthesia protocols to prevent such horrific events from occurring.
Fortunately, research has advanced significantly, allowing us to reassess individuals through diagnostic testing prior to surgical procedures to identify those at greater risk for sudden cardiac arrest. We now know about pre-anesthesia protocols, such as ensuring adequate hydration 24 hours before the procedure. By administering a substantial amount of fluids, we can help alleviate the constricted state of their blood vessels.
When anesthesia is administered, a sudden drop in blood pressure can occur, leading to cardiac arrest. Such a situation can be fatal without an ECMO (Extracorporeal Membrane Oxygenation) team on standby. An ECMO team would typically be unavailable for standard procedures, and having a cardiac anesthesiologist present is usually limited to surgeries directly involving the heart.
This increased understanding is crucial for individuals with Williams syndrome.
SCS: How does WS affect the body?
CF: Williams syndrome affects many parts of the body, primarily by impacting the blood supply. This condition leads to a range of intellectual disabilities in affected individuals.
People with Williams syndrome may also experience various medical issues, such as eye problems, hyperactivity, and hearing loss. They can face difficulties with swallowing, gastrointestinal issues, and feeding problems. Other challenges may include kidney, heart, lung, and neurological disorders. Many individuals also have orthopedic problems, like scoliosis.
Each person with Williams syndrome can show different symptoms, even if they have the same genetic deletion. This difference adds to the complexity of understanding the condition. Williams syndrome affects the body in many ways, leading to significant challenges for those impacted by its more serious symptoms.
SCS: So, WS is a genetic disorder. Did anyone in your family have the gene?
CF: That’s such a great question. The answer is no. It is truly de novo, meaning it arises spontaneously and is not inherited. If anyone in my or my husband’s family had passed it on, we would know because we would have all the relevant known features.
Additionally, if my son were to have children, or if an individual with Williams syndrome were to have children, there would be a 50% chance that he would pass it on to his offspring.
SCS: You mentioned before that Anthony has a team of doctors; how essential is it for you, as a caretaker, to maintain a strong relationship with them as well as have patience in the process?
CF: There’s nothing you can do; you have to ride the wave. We need to work as a team because I have to keep him as healthy and alive as possible. I have to be patient with the doctors, but I think you touched on a powerful emotion. My lack of patience probably led me to where we are today with our awareness and fundraising efforts through the AF Research Grant, to try to help as many people as I can with WS.
So, Anthony is 13 now, but approximately 11 years ago, when he was finally diagnosed with Williams syndrome I started calling the Williams Syndrome Association, reaching out to other parents, and contacting the National Institutes of Health—basically every big institution I could think of. What I found was incredibly disheartening: there was very little available by way of research, doctors, knowledge or awareness, and of course, no medication. That was just unacceptable for me.
At the end of the day, there’s nothing in the world you love more than your children. So, just sitting back and accepting the status quo wasn’t an option for me. While I like to think I’m patient with the doctors, there’s one in particular who would probably beg to differ. He’s the one doing a lot of research on the cardiovascular complexities of Williams syndrome and someone I have grown to admire and respect. He is giving us so much hope for the future. This Doctor says to me it takes time, but you know, time is not on everyone’s side, especially for children who are in a much worse position than our son.
SCS: Tell us about AGF, A Fund for Williams Syndrome Research and Advancement, that helps so many people living with WS
CF: We work with the Williams Syndrome Association, which is the official nonprofit organization for families, individuals, researchers, and doctors involved with Williams syndrome. A few years ago, we recognized that while there are many avenues to support, medical research for Williams syndrome wasn’t necessarily prioritized. To address this, we created a designated initiative within the organization called the Anthony G. Filippazzo Fund for Williams Syndrome Research and Advancement.
Our mission is to raise funds specifically for medical research and advancements that will make a significant difference in the lives of individuals with Williams syndrome. We organize various smaller events throughout the year, culminating in a major gala we host every two years. Although our plans were interrupted by COVID, we are now back on track and are riding a wave of what’s been an incredible journey.
We actively use social media, especially Instagram, to spread awareness. While I’m still learning about TikTok, I have become familiar with Instagram because of my son. Through our posts on Instagram and Facebook, we promote our mission and connect with the community and beyond. We are now even connecting with international Williams syndrome organizations. That’s actually been really cool!
SCS: You have two children: an older daughter, Rose, and Anthony. You work full-time, are a wife, and are a caretaker. How do you remain positive through it all?
CF: I want to share a bit about my journey. When Anthony was first diagnosed, I can honestly say I felt really broken. It took me about three and a half years to learn how to move beyond that feeling of hopelessness. I’m incredibly grateful for my faith, family, and friends; they have been an amazing support network throughout this challenging time.
At the beginning, I felt blindsided. I had a normal pregnancy with no complications, and my daughter Rose was already part of my life, so I didn’t think I needed to prepare for anything drastic. Yet, in an instant, everything changed, and I felt like the carpet had been pulled out from under me. Suddenly, I had to navigate a very complex medical condition, in real-time, with no room for hesitation. It was a very tough process.
But here we are now. My faith in God has been a guiding light. I take my son, Anthony, to church almost every Sunday. He has received his sacraments—baptism and communion—and is set to receive confirmation this summer. With all my heart, I genuinely believe that God gifted us with Anthony for a very specific purpose and I am so thankful that I was able to recognize and heed the calling.
Managing all of this and my day job can be a lot of work. However, I believe that our family has been tasked with making a difference for the WS community, and this belief drives us forward. Learn more about the Filippazzo Family at https://www.wsresearch.org/
