Meet Balin, a CHOP Research Hero Building a FAVA Community

By limjr [at] chop.edu (Jillian Rose Lim)

Almost every day of the year, you can find 16-year-old Balin on the field playing soccer, a sport he's loved since the age of 3. Practicing through rain or shine, pain or ease, the soon-to-be high school junior tries not to focus on the fibro-adipose vascular anomaly (FAVA) in his foot while donning his cleats and crossing the pitch.

"Before and during my diagnosis journey, I was always playing soccer," said Balin, a devoted Manchester United fan. "I never missed a day."

He knows this may seem unthinkable for many FAVA patients – in the rare vascular anomaly, tough and fibrous fatty tissue takes over muscles in one or more of the limbs, causing pain, stiffness, and swelling.

Determined not to be defined by the condition, Balin pushes forward. He is an active and passionate advocate for patients diagnosed with FAVA and their families, driven by a desire to help others.

"My goal when I do anything is to make sure I'm not doing it for me," Balin said. "Many of those living with FAVA are struggling physically, mentally, and even socially. I want to make sure that I am continually helping my community, whether it is educating people on the condition, contributing to research, or connecting teenage patients with each other."

Though he lives in California, Balin participates in CHOP's Youth Advisory Council (YAC) and Research Family Partners Program via video calls. He visits CHOP annually to see his doctor, Denise Adams, MD, director of the Comprehensive Vascular Anomalies Program (CVAP), a CHOP Frontiers Program.

Balin also works actively on Project FAVA, a nonprofit established by him and his family that connects patients with a community of resources, supports cutting-edge research, raises awareness of this rare vascular anomaly, and so much more.

But before Balin became a champion for FAVA research and treatment, his story started like that of many others – with a diagnostic odyssey.

Finding FAVA

At 7 years old, Balin was at camp playing soccer when another player stepped on his foot. Weeks later, Balin's foot remained swollen and excruciatingly painful.

Searching for an answer, he and his family visited eight physicians across five U.S. cities over the course of one year. Balin received procedures, therapeutic interventions, and biopsies that resulted in more questions, misdiagnoses, and uncertainty.

When summer came around, the family found themselves at Boston Children's Hospital. At the time, Dr. Adams worked there as co-director of the Vascular Anomalies Center. An established expert and leader in complex vascular anomalies, Dr. Adams and her colleagues identified Balin's symptoms as FAVA. Because FAVA had only been recognized in medical literature as a distinct disorder from other vascular anomalies two years before, so much about it, from cause to pathology to prevalence, remained unknown.

On Project FAVA's website, Balin's mom describes FAVA as a disorder "so rare that when our friends Googled it to learn more, instead of finding a Wikipedia definition, they were directed to websites discussing the legume."

Sitting in Dr. Adams' office that day, Balin and his family wanted to know: What could they do to help?

"We didn't want to sit there and feel powerless," Balin said. "And the thing that started all of my [FAVA] work was other people feeling powerless. I wanted to try to give other patients power, to lift them up."

They set an ambitious goal with Dr. Adams to find everyone around the world with FAVA.

Project FAVA is a non-profit organization dedicated to empowering the FAVA community through outreach, education, and connection.

By establishing a central database of FAVA patients, Dr. Adams and other researchers would have a list of families to reach out to when they eventually secured enough funding to start research. After two years of hard work and effort, Project FAVA launched in June of 2018, with the database as one of its stated missions.

Today, the nonprofit has reached close to 175 community members from around the world. Its activities have expanded to include raising grant money for research, patient education, and creating connections between patients, medical providers, and researchers.

As part of its patient education, Project FAVA also produces informative brochures that can be found in most vascular anomaly centers across the U.S. to educate families about the condition in clear, concise, and relevant language.

Identifying Genetic Variants

Since Balin's diagnosis almost a decade ago, researchers now know a little more about the disorder. For some people, FAVA involves a mutation in the PIK3CA gene, while for others, it may involve a potential mutation in the TIE2/TEK gene.

And in a recent study in which Balin participated, Dr. Adams alongside colleagues in CHOP's Center for Applied Genomics and Division of Human Genetics, investigated how deep sequencing of isolated DNA could lead to less invasive molecular diagnostics for patients with FAVA and other vascular anomalies.

Results from that trial, published June 2023 in Nature Medicine, included the identification of genetic variants related to disease phenotypes that could not previously be captured by conventional genetic testing. The variants led to diagnoses that, in turn, resulted in 69 study participants planning to receive a new medical therapy and 63% experiencing a marked improvement in their symptoms.

Beyond the Bench and the Bedside

Balin's outreach work goes far beyond FAVA. When Dr. Adams joined CHOP in 2020 to lead CVAP, Balin followed. It was here that he began to work with CHOP's YAC, sharing his stories and ideas to create better experiences for patients with all kinds of conditions. Established in 1999, YAC is an advisory group that meets monthly to provide the unique perspective of patients and their families to inform programs and policies at CHOP.

"Different departments of the hospital attend meetings and ask for patients' advice," Balin said. "For example, last month a nurse practitioner in one of the departments asked about the best way to communicate a diagnosis to patients in the PICU. She asked us, 'When you first heard about your diagnosis, what was your reaction?'"

While Balin didn't have experience in the PICU, he did have a story to share about his FAVA diagnosis.

"If a doctor went up to me and said, 'You have a fibro-adipose vascular anomaly, which is considered a vascular anomaly with fibrous and fatty tissue,' and they kept going and going, I would tune out before they got to the point," Balin said. "Instead, doctors should be more direct and tell patients what they have using child friendly terms, explain that it's treatable, provide the treatment options, and let the patient be a part of the medical team in deciding what to do next."

Balin described how Dr. Adams explained his own diagnosis in a meaningful way: "I remember one of the first times I met [Dr. Adams], she took this really complex vascular anomaly and dumbed it down into ways that I could understand. When I come to CHOP for my annual visits, I wait to see her with a huge smile on my face because I know that she's with other kids. saving lives, and raising spirits."

Balin also recently met with CHOP's Recruitment Enhancement Core to chat about how he may be able to add his voice to patient and family panels on the research

side at CHOP. These panels, like the YAC, are interested in hearing the experience and insight of patients and families to ensure that research is designed in a way that centers around patient, family, and community goals.

The Future is Bright

Balin manages his FAVA with the guidance of Dr. Adams and the help of sirolimus, an off-label medication. He continues to play soccer, participate in research, and dream big. His goals include majoring in business with a minor in disability studies at a university and continuing to expand Project FAVA's reach.

Balin is in the process of publishing a children's book about FAVA, which reflects his optimistic view on the challenges of life with a rare disorder:

"This is a disease that you're born with, which means it often exhibits itself in children," Balin said. "And with a disease as complex as FAVA, children living with it have a difficult time understanding their condition. The goal of my book is to create something that younger kids, ages 7 to 11, can sit down and read with mom and dad, that explains why they are experiencing so much pain and hopefully calms their nerves as well."

Meanwhile, Dr. Adams, whom Balin calls an inspiration and "the best doctor ever", has her own high hopes for this Research Hero:

"[Balin] is an amazing person," Dr. Adams said. "A teenager who is amazingly smart but a little 'goofy' – a term of endearment. He wrote a book about FAVA for other children to help them. He is always doing for others. He cares about research because it will help others ... and himself. I always say that, 'He definitively will be something great because he is now.'"