Changing the Future of Williams Syndrome: Camille Fortunato’s Mission to Find Answers

Kerry: Welcome to Once Upon a Surgery. I’m the host Kerry Berlet, wife of world-renowned plastic surgeon Dr. Anthony Berlet. Today we have a very unique episode. I have two amazing guests, Camille and Anthony, and we’re going to hear about Anthony’s rare condition. This is a cause that I can really relate to. If you know me, I have a niece who has a rare condition. And we’re going to hear all about the foundation, the diagnosis, the journey, and all the amazing efforts that Camille has been making. She’s really taken charge, and there have been tremendous breakthroughs that are truly remarkable. So first, tell me about the foundation that you started.

Camille: Thank you. First of all, thank you so much for having us. This is really an amazing opportunity, and thank you for everything you’ve done over this quick friendship. So the Anthony Filippazzo Foundation, we go back about 12 years now. Anthony was diagnosed with Williams syndrome when he was two. Despite being born a very sick baby with lots of different medical conditions, we didn’t know exactly what he had until finally we went to a geneticist to discover that in fact it was Williams syndrome, which is a very rare genetic disease.

Kerry: How common is it?

Camille: They guesstimate about 1 in 10,000. There are definitely people who are misdiagnosed, undiagnosed, never diagnosed. But it’s about 1 in 10,000. It’s caused by a microdeletion of approximately 27 genes on one arm of chromosome 7. And the hallmark gene that’s missing is elastin. Elastin is the protein in our bodies that keeps our vessels open and malleable and smooth and not rigid. And so in missing 50% of the elastin, what happens is the vessels are more tortuous, and that puts more pressure on the heart every time it needs to pump and circulate the blood. In addition, individuals with Williams syndrome have stenosis to the organs: the brain, the gut, the kidney, the GI.

Camille: So it’s a complicated disease, but it’s not impossible to make breakthroughs in medical research. Sudden cardiac death sort of plagues the community for reasons that we don’t yet understand, but that we are heavily pursuing in research. And this is our gift, and this is my purpose and my why. When we started the foundation so many years ago, we initially started working under the umbrella of the Williams Syndrome Association, which is the official 501(c)(3) nonprofit. And early on, we knew Anthony was going to need a surgery. No, you don’t need to. And that’s that.

Kerry: So I guess you meet other families with that. That’s how you connect with others?

Camille: Absolutely. And that was so helpful to me. No, you don’t. You had one already, right? And that one, thankfully, [inaudible] surgery.

Kerry: Do you want to say what surgery you had? What type of surgery?

Anthony: Heart surgery.

Kerry: He had a heart surgery. How long ago was that? When did that happen?

Camille: Go ahead.

Anthony: 21.

Camille: 2023.

Kerry: Why did you have heart surgery? Do you remember?

Anthony: Because they fixed it up for me.

Camille: Yeah, they fixed it up for you. He has stenosis in the aorta and the pulmonary artery. Early on we knew that an intervention was going to be needed, because in addition he had something called supraventricular tachycardia. So by the time he was three, he would get rapid incidents of a heartbeat like 280 to 320, and it would require shocking his heart back into rhythm, which required many trips to the emergency room. We were eventually trained on how to do vagal maneuvers. You basically suffocate with ice in order to force the body to reset, or bear down so hard that it resets the heart. But when that couldn’t happen, he would need to get rushed to an emergency room to get a medication that would basically stop and reset his heart.

Camille: So we knew a surgery was in his future, but kids with Williams syndrome suffer from an enhanced risk of sudden cardiac arrest with the administration of anesthesia. And so the goal was to get him to either 10 years old or 80 pounds. They also suffer from being underweight because of difficulty eating. So 10 years old or 80 pounds before we could do the surgery. And so with a heavy dose of antiarrhythmic medications, that’s basically how we lived for a decade. When it was finally time to do this surgery, thankfully, it was a 7-hour procedure. They induced the tachycardia, they found the faulty leads, and they burnt and froze the electrical abnormalities in his heart.

Kerry: I can imagine how terrifying that was for you.

Camille: A surgery, I think, for anyone’s child is terrifying, but Kerry, literally, there was a chance that I wasn’t going to get him back. We had a fantastic team. We did lots of pre-surgical testing, including taking him to the NIH to have his coronaries studied, which is information that we only learned because of our work through the foundation and the research we’re doing: that CTs of the coronaries are very important for our children. And we now have published data on that. Normally you would just do an echo or an EKG, and that would basically be the gold standard of care. But an enhanced measure for individuals with Williams syndrome is to do a CT and check the coronaries, because if there’s tortuosity in the coronaries, once the anesthesia gets administered you have a precipitous drop in blood pressure, they go into cardiac arrest, and if you don’t have an ECMO team bedside, they die.

Camille: And so one of the first studies that we funded, back in 2017, was a pilot study proposed to the Williams Syndrome Association between Boston Children’s and Columbia Morgan Stanley Children’s Hospital. They came to the WSA and said, we want to study anesthesia and sudden death in Williams syndrome, and there was no money to do so. So we couldn’t let that die.

Kerry: Did they say how much money they needed?

Camille: They needed a million dollars. So a bunch of us parents got together. We held an iconic event at Cipriani right here in New York City, and it was the first ever fundraiser for medical research. And we funded the study. I started fundraising in about 2014, and for all those years, our efforts would go basically to operating expenses for the WSA, which is important because it has a support network. It helps families, especially the newly diagnosed. But after that night and the energy in that room and seeing what we were now able to do, it lit a fire in me like never before. After 2017, I approached the WSA and I said, “From this day forward, all our efforts need to get earmarked for research.” So hence the AGF was born through the WSA. And then I just started throwing it out to the universe, emails looking for doctors all over the world who either had some interest, had some knowledge, or were willing to take the risk and learn about it and study it. And in 2018 we met such a person.

Kerry: How did you connect with them?

Camille: So interesting. I went down to the NIH because I had learned about a vascular study that was going on. So we enrolled Anthony, and on the last day of the last appointment, after three days of testing and doctors, in walks this man, Dr. Mark Levin, who is an electrophysiologist cardiologist, researcher and clinician. And he said, “I have a hypothesis for the fatal arrhythmias in Williams syndrome and I’m starting to study it. It is a passion of mine and I want to pursue it. And here’s basically the status of my research.” And when I left there, I just said, “This is it. This is the man we need to really get to know. I need him to educate me, and then we need to take this to the next level.” And that’s really what we did. In 2019, we did our first event as the AGF, and we’ve raised another million dollars since then.

Camille: Our dear mutual friends Rosie and Dave from the iconic Valbella at the Park hosted a wine tasting. It’s the best restaurant, and they’re just such beautiful people. They hosted an event for us where we raised over $400,000 in just one night. That was in 2023. And what that did was enable us to purchase advanced cardiac medical equipment for Dr. Mark’s research and help him start a laboratory at the University of Pennsylvania Perelman Medical Center, which is where he’s currently studying Williams syndrome in mouse models. So it’s just been a transformative, incredible journey of meeting so many incredible people and being able to do some really profound work for the Williams syndrome community.

Kerry: Wow. And so this doctor, how was that his passion? Where did that come from? Because usually there’s something that triggers it.

Camille: I asked him that same question. He was a cardiologist by training, and he just met one patient with Williams syndrome, and he said that was it. Their joy, their empathy, the love, and then the complexity of the cardiac complications intrigued him for sure. But he said just meeting that one patient, that was it: “I knew that my life had to have a different, deeper purpose and meaning.” And I’m so grateful that those two paths crossed, because truly he is doing some really great work for our community. We’re actually honoring him at our gala in November with the Love Juliet Award.

Camille: Juliet Baron was a baby girl from Texas who had a massive heart attack just before her second birthday a few years ago. She had Williams syndrome, and her parents very courageously donated her tissue to Dr. Mark’s research. That was the first tissue sample he was able to perform his research on. Before, it had been on mouse models, and now on an actual human tissue sample. So that was also transformative: taking a hypothesis, seeing it in a mouse model, now seeing it in human tissue, and all ringing true.

Kerry: So it’s been quite a journey. And you were previously a lawyer, and now this has just taken over, right?

Camille: Yes. I am an attorney by trade, and my work has had to take bits of sabbaticals here and there, also just to deal with his medical complications. The 10 years before the heart surgery were a very difficult decade for us, in and out of hospitals with a cardiac condition so active. But in 2027 I will really do a career shift. We started our own 501(c)(3) called the Anthony G. Filippazzo Foundation for Williams Syndrome Research, and we launched it this year. So now I will work in tandem with the Williams Syndrome Association and have a much more laser-focused pursuit of the research, and put that chapter of my life to bed. As much as that’s hard to say, because I truly loved and enjoyed what I did. But I understand that God gave Anthony to our family unequivocally for a reason. And all the blessings that we’ve had in our life and every milestone that’s got us to this point, this was the reason. Of course, it started because of our son, but now there’s the ability to help people truly all over the world and connect with families and doctors. It’s the why. It’s the purpose.

Kerry: And so I can really relate to your journey. Again, I have a niece who has a condition that they say is one in a million. So you can imagine how rare it is and how difficult it is when you have someone with a rare disease, because they just don’t have the resources that other, larger diseases have. That’s why these umbrella organizations are so important for connecting families and helping the patients. But then again, the research is such a separate, important need. And we were blessed, with my niece’s condition we just had a huge breakthrough with a pharmaceutical company. It’s amazing that for this rare condition they have something that can stop it 99% effectively. So that’s, I’m sure, the goal. And with this doctor, just to know that it is possible, and he’s making progress, it feels like this isn’t just some charity where the money is going into a black hole. This is a specific person working and really making progress.

Camille: Completely. And what’s so interesting about that is I often go back to the mother 14 years ago, who was so broken and so distraught, and then even 12 years ago when I finally got the diagnosis. I’m not ashamed to admit those were some really dark periods in my life, because I was just devastated, and angry and scared and hopeless. And I can’t ever forget that period of time, because to now see where we are, when I was truly hopeless. I would make calls and send emails and go online, and it was just no, and rare, and where are you going to get the money, and how are you going to do this? It just felt like such an enormous undertaking.

Camille: Besides the heart and the crying, he used to vomit pretty much profusely. Many infants with Williams syndrome have a hyperactive gag. So he would vomit profusely, and I nursed for two years because we couldn’t get food into his body. He could only tolerate breast milk. And one day, my mom lived a few houses away, I just went to her house and I said, “I can’t handle this. I don’t know what to do anymore.” And she looked at me and she said, “Go home to your children and figure it out.” My mom has since passed, but I know in that moment she knew that was what I needed, because I had to go home to my children and figure it out. The pity party had to end, and we needed to have a clear path of what we could really do to help.

Camille: And I can’t forget that, and I like to share that, because there are so many people, your family included, who get these crossroads in life and these opportunities to either rise to the occasion or let it really eat us up inside. And when you have support systems and family and belief and spiritual guidance, you can do so much good. But I’m on this side now. I wasn’t there 12 years ago, and I’m so grateful. So many people, Kerry, have helped us, strangers. This is how this was built. We’re grassroots. We’re a local family from Brooklyn. Mom and dad, two kids, lawyers, just going along doing our thing. And you never expect this.

Kerry: That was the same for us. My sister swam all four years at Princeton, the healthiest person. And you don’t expect to be served this life, but in some ways there must be a reason. It’s the people that can handle it, I guess. It felt so overwhelming, and I do know when my niece was first diagnosed, all I could think was just fundraise, fundraise. That was the only thing I could think about. And then to actually be at this point where there have been breakthroughs.

Camille: That was amazing. We shared that story, and that’s what I said. This is exactly what we’re trying to do, because this family didn’t give up. That’s why they’re here now. But what’s so funny also: back then, when we held our fundraiser, that night was specific for research. But after that, when we went out on our own, now we had money, and I was like, wait, now I have to find research. Now we have all these generous people who gave us so much, and now I have to make it happen: fund really high-quality research that I think is really going to make a cardiovascular difference. That was the next hurdle, and then thankfully our paths crossed. And going back to our mutual friend Rosie and all the AGF ambassadors who are now part of our team, these people are donating their time so generously, and the friends that we meet, like you, and all the networks that have happened. We would never have met these people but for having Anthony as our son. It’s changed my life.

Kerry: And what’s ironic is, as we made this connection, I was talking to my sister: have you heard about this disease? And she said, I do know about it, because it was a doctor connected with that disease who helped diagnose my niece. With these rare diseases, part of the challenge is awareness and getting that proper diagnosis, because there can be some really catastrophic consequences if it’s misdiagnosed. So it’s amazing that both my niece and your son, around two, they figured it out. That was the biggest challenge.

Camille: It was the biggest. He had had an autism diagnosis from pretty much a few months old, and he had all these different medical conditions going on: hypoglycemia, he needed a blood transfusion, they told me he was bilaterally hearing impaired, a hole in his heart, obviously the profuse vomiting, the crying, hypercalcemia. And we would go to all different doctors, Boston, Kentucky, Manhattan, and do a test, and then one fire would go out and then another fire would burn. At two years old I said something isn’t right, we have to test his genes at this point, because it just doesn’t make sense. And I walked into the geneticist’s office, he took one look at him and said, “Oh, he has Williams syndrome.” He said, “Don’t Google it.” And no one believes me, Kerry, that I didn’t Google it, but I truly didn’t. He said it could take two to four weeks for the genetic testing to come back, “So don’t Google it, because I could be wrong, but that looks like Williams syndrome,” because they have classic features and the presentation, and then hearing about the medical problems from birth.

Camille: And less than four weeks later, I was actually in court on a Friday, and he called and said it’s confirmed. And I fainted. I went right out. I did settle the client’s case, but I didn’t get to argue my motion that day, because when I woke up, I was just shaking. And they drove me home. And then I credit so many of my family. I have an amazing sister, an amazing sister-in-law. We are so blessed to have an amazing family, because talk about a life change. I hit rock bottom in those weeks following the diagnosis. I didn’t want to get out of bed. I didn’t want to speak to anyone. I had no idea what this was about, and every time I would start to go on the internet, I just couldn’t read anymore.

Camille: People often ask me, “What’s the life expectancy?” And I say it’s the one statistic I never looked for. Whatever it says, I don’t really care. I don’t want to know. I know enough about Williams syndrome and the complications.

Kerry: And you can’t look at it. I have a friend who actually has a rare lung disease that she found out about in 2004, and they told her she had 5 to 10 years. That was 22 years ago.

Camille: I’m grateful that I didn’t, because those first few months were really so challenging. But my sister came over one day and she said, “I’m going to watch him. You’re going to take a shower, and when you come out of the shower, you’re going to put on some fresh clothes. We’re going to take a walk around the block, and when we come back into the house, we’re going to figure out our new life.” And I said, “I’m not ready for it. I don’t want to go.” She said, “No, no, no, that’s what you’re doing. I’ve cleared my schedule.” And that’s what we did. And when we came home, she already had some of the geneticists we should see who had specialties in Williams syndrome. One in particular in Boston, who we still see every year, is doing amazing research, and she is someone we are also going to support in November with our gala. And she had the Williams Syndrome Association information handy, and a cardiologist handy. And so we just sat down and said, “Let’s figure it out.”

Camille: And then our first walk was in Battery Park just a few months later. I hadn’t yet told my family or my friends, but I sent an email to about 65 people, and I said, “This is where I’ve been for the last few months. Anthony was diagnosed with Williams syndrome. We’re really just starting to figure it out, but we’re going to do a walk in Battery Park on April, I think it was the 26th, and we’re going to make up t-shirts. If you want to join us, that’s where we’ll be.” 62 people showed up. It was our first event. We were maybe four or five months post diagnosis. We raised $35,000. And I left there feeling a modicum of healing. Now I know it because I felt it so many times, but there’s such a healing power in being able to talk about this, share a hug, hear “we’re here for you.” It means so much.

Kerry: It’s so crazy that we had a very similar experience. My niece was diagnosed in May of 2012, and then in October we did a swimathon, where my sister’s former coach at Princeton held this amazing event, and we raised I think about $65,000. It felt like, okay, that’s enough to hire another researcher. And then it continued. I had a friend working for an advertising agency, and they made a virtual flower garden, and people bought flowers. All these things are just heartwarming. It gives you hope and strength during that whole process. And that’s why now we are trying to do our own effort for you, having made this connection, because we had this upcoming fashion show and shopping, and we wanted to have a philanthropic purpose, and so we connected with Camille. So coming up, we have an event actually at my husband’s office. It’s a Toxin and Shop event.

Kerry: There’s a new neuromodulator called Jeuveau that will be offered. And what’s interesting is you had talked about how it was actually Botox that had helped Anthony’s knee, so somehow that’s related. And then we also will be selling Chiffique, the luxury clothing line, and 20% of the proceeds will go to your foundation, and this beautiful Yolena of New York jewelry will also be for sale. And the first 10 people will get a free area covered. But talk about how it served a purpose for his knee, because actually Botox also helped me, after I was having these migraines and losing my vision. Tony did it in the back of my head, and it fixed it.

Camille: We didn’t wear the braces today, just because we had a bit of a car ride and they’re a little cumbersome. But musculoskeletal issues are a challenge for individuals with Williams syndrome. Fine motor, gross motor. And severe toe walking, also because of their sensory dysregulation, is a pervasive problem in the community. For years he was in leg orthotics with extensive physical therapy, but it really didn’t work, because he was still toe walking. And as he grew and got older, it would cause him to fall. Obviously delayed walking, but also an antalgic gait, falling often, and difficulty urinating just because of positioning. And so we did Botox with serial casting. We did one round of it about two years ago, and he didn’t really have a great response to it. But last summer we did an outpatient procedure with Children’s Hospital of Philadelphia, and the procedure was a bit different. They Botoxed from knee to toes, front and back.

Kerry: So that can be painful.

Camille: It was very painful. And because we can’t anesthetize, because of the cardiac risks, he couldn’t take anything. So it was a little bit of a traumatic procedure.

Kerry: Did they give numbing cream?

Camille: Really, any kind of epinephrine or anything that could change things, I’m just afraid. So we erred on the side of caution. He’s a big Bruno Mars fan, so we had some Bruno Mars going in the background. After the Botox, what they do is cast the legs. They do serial casting with heels. The cast starts at your actual walking height, on your toes, and then every week you go back and the heel diminishes. The concept is that if we stay like this, then we’re never going to have the pressure to bring the heels down, and you’re never going to feel the force of gravity and allow the Botox to set in and really pull those muscles down. And that was pivotal in terms of being able to walk flat-footed again. So every week we went back to Philadelphia, changed the cast, lowered the cast, over nine weeks. So last summer was brutal. And at the end they took them off, and he was fitted for full knee-to-toe leg braces for day and night. He has two separate pairs, because they do something a little different in terms of where they’re pulling from. And he now walks flat-footed. And it’s a game changer, because he’s walking straight. He’s not falling. There were times he was nearly hitting his head falling on the concrete.

Kerry: But that’s temporary though, right?

Camille: That’s why he needs to stay in extensive PT, because yes, it does wear off. But the goal of the braces, and why you wear them all the time, is also to pull the muscles down. His braces are quite cumbersome, and that’s why we didn’t put them on today. But the weight of the brace and the specific orthotic of the shoe are pretty sufficient to keep the foot down. So you have to stay in extensive PT, and you have to stay pretty much forever in the leg braces, day and night. But still, he’s walking, and uninhibited. So we’ll take it. But it’s not very stylish, Kerry, so that’s why today we didn’t wear them.

Kerry: But how did they figure out this Botox approach?

Camille: An amazing team at CHOP. It’s really an institution: an orthotist, a physical therapist and a physiatrist, putting some brilliant minds together, and we saw a really positive response.

Kerry: That was where my niece actually had surgery at one point too. Tremendous. And so I did want to talk about another fashion event coming up on September 13th, where our charitable beneficiary is going to be Williams syndrome, through the AGF. Anthony G. Filippazzo. Camille: Filippazzo. Yes.

Kerry: What does the G stand for?

Camille: I made you. But what does the G stand for?

Anthony: My name.

Camille: Yes. Which is G?

Anthony: George.

Kerry: George. Okay. All right.

Camille: Anthony George Filippazzo. That’s the foundation.

Kerry: And we’ll include the link if people want to read about it or donate. And you’re definitely going to model.

Camille: I’m actually camera shy, but nobody believes that. Honestly, I can’t thank you enough. There’s no amount of words that could really convey how much I appreciate this. It’s extraordinary, especially in the rare disease arena, and especially because this is a new friendship. I could never really thank you for what this means to me and the opportunity that you’re giving us. So of course, if it means modeling in your fashion show, I’m all yours.

Kerry: We’ll do a little training. It’ll be so much fun. And we’ll include Rosie, everybody. And we have some fun things too, like celebrities. We have an amazing MC. It’s going to be super fun.

Camille: Our whole team is super excited. I sent the graphic that we completed this morning to our AGF team, and everyone was going bananas. I said, “And then wait, we have another one coming for the 13th.” They asked, “Are you mixing the dates up?” I’m like, “No, there are really two events, and we all need to get ready.”

Kerry: And I have a QR code so people can shop if they’re not able to attend in person. Can I ask you a few questions, Anthony? So tell me, what’s it like to live with Williams syndrome?

Anthony: Williams syndrome means to have a family and friends and all the gang around.

Kerry: That’s great. And do you go to school?

Anthony: Yes.

Kerry: And do you know anyone else with Williams syndrome?

Anthony: Mia. Gigi. I love Williams syndrome.

Kerry: I’m sure it’s nice to have a connection with friends in a similar situation. What’s the name of your school?

Anthony: Riverview School.

Camille: But you don’t live there, you just stay there, right?

Kerry: And who’s your favorite singer?

Anthony: Bruno Mars and Pitbull.

Kerry: That’s cool. Both of those are right up there with my favorite singers too. Have you been to any concerts?

Anthony: No, I have not.

Camille: What?

Anthony: No. I have not been to the one at Jones Beach before Pitbull.

Camille: But when’s the first time we went to the Pitbull concert?

Anthony: It was last night.

Camille: No, no, no. Last year. Last summer.

Anthony: Mom, last summer we went to the Pitbull concert in Jones Beach.

Camille: No, no, no.

Anthony: Arthur Ashe.

Camille: Arthur Ashe. You’re right. Do you want to tell Kerry that you play musical instruments?

Anthony: I play musical instruments. Drums and piano.

Kerry: Really? Fantastic.

Camille: Perfect pitch, perfect rhythm. He was playing before he could speak. He loves Disney music. I was cooking in the kitchen one day and I heard him on his piano play. What did you play first? “It’s a Small World,” or did you play “Under the Sea”? Which one was that?

Anthony: It was “Small World.”

Camille: “It’s a Small World.” And I knew the television was on, and I’m like, where did that come from? And I walked in and I said, “Do whatever you just did. Do it again.” And he went up to the piano and he was able to do that. He just has to hear it on his iPad, and then he plays it, drums and piano.

Kerry: It’s amazing. Is that unique to him?

Camille: They say individuals with Williams syndrome are musically gifted, and there is some research to show that there is a connection, but there are individuals with Williams syndrome who aren’t musically gifted. So what I’m also learning now in this arena is that other gene expression, and obviously environment, all greatly impact how the condition presents.

Kerry: Well, I don’t know if I’ve shared everything, but we have a musician. Do you know the song “Celebration” by Kool & the Gang? He’s going to be performing at the fashion show.

Camille: Wait a minute. That was the theme song for my confirmation party. My mother loved to throw a party. She would throw a party for really anything, and she loved big parties. So my confirmation party was a Hollywood theme. She was such a fun woman. We had a red carpet, and everyone came in gloves and tuxes, and when you walked in, “Celebration” was the song that was playing. I cannot even believe this. I feel like that’s a sign. What’s the probability of this?

Kerry: So it’s going to be an incredible event, and again, I’m so excited. All right, so we have Dr. Berlet, who is going to be hosting a Shop and Toxin event at his office to benefit the Anthony G. Filippazzo Foundation on September 10th. And I just want to say you’re so inspiring. I’m so proud of all the work you’ve done. I can tell you’re a woman on a mission. And between this shopping event and our upcoming Silk Society fashion event on September 13th, both will be benefiting the AGF foundation, and there will be links if you want to donate or shop for a cause. We also have Yolena of New York jewelry that will be sold, and if you book your surgery on the night of September 10th, you get a free Chiffique piece. So hopefully this will all lead to further breakthroughs from Mark Levin and everything else that you’re doing.

Camille: Thank you so much. Cheers.

Kerry: Well, I hope you enjoyed this episode of Once Upon a Surgery. This was a very special episode, and I do have to say there are many charities out there, but with this specific one you can actually have a tangible impact on children’s lives and the future of this rare condition. So please remember to like, subscribe, comment, and we will see you next time on Once Upon a Surgery.