Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.

Jonathan Cappiello was born on April 14, 1999. His dramatic entrance into the world came three weeks early and marked by a potential medical complication: his umbilical cord was wrapped tightly around his neck. This difficult birth foreshadowed the complex—and yet, unrelated—medical journey that lay ahead.

As a toddler, Jonathan was often ill. His parents took him to doctor after doctor with no real answers. Jonathan was just predisposed to catching bugs, doctors said. But in December 2000, just a few days before Christmas, the family could no longer ignore the signs. Jonathan went limp in his mother’s arms. Nobody could wake him. His siblings, just about to head out the door to school, watched in horror as his parents dialed 9-1-1. Jonathan was rushed to the hospital, where, he explains:

“The doctors couldn’t get an IV into my arm and had to go through my leg. Nobody could figure out what was happening. But in those moments, they had to take life-saving measures to keep me alive.”

Finally, doctors suspected that Jonathan was dealing with an underlying condition. His family was referred to numerous specialists, including a geneticist. Testing eventually uncovered that Jonathan had a long chain fatty acid oxidation disorder. His body lacks a crucial enzyme necessary for breaking down and processing fats.

In many ways, living with a rare condition made life more challenging. And yet, says Jonathan, his rare disease also provided invaluable opportunities to connect with and support others, a mission that he holds close to his heart. He launched his 1 of 20 Podcast (available to stream on Spotify and Apple Podcasts) during the COVID-19 pandemic—and hasn’t looked back. His podcast uses his unique position to raise awareness and push for change, not just for himself but for the greater rare disease community.

In his discussion with Patient Worthy, Jonathan talks about his 3-hydroxy-3-methylglutaryl-CoA synthase deficiencydiagnosis, the importance of storytelling in the rare disease space, and how he hopes the 1 of 20 Podcast makes a difference.

Changing Policy

Jonathan and his family quickly adjusted to his long chain fatty acid oxidation disorder diagnosis. The condition necessitated a complete overhaul of diet and lifestyle. He laughs as he recounts a story from a family vacation:

“I was a delusional three year old and I wanted a donut. I pointed at it in the store and went, ‘No fat. No fat.’”

With his condition, Jonathan’s daily fat intake is restricted to just 40 grams. While that may sound like a lot, he says:

“One avocado toast has 22 grams of fat. I’m not saying that I’m a saint. If you’ve ever seen me with a McDonald’s french fry—I’m a human being at the end of the day. But my condition can turn very dire very quickly, so I do have to be very cognizant. I look at every nutrition label; I have food scales. If I go out, I eat plain foods because it’s easier for my peace of mind.”

When Jonathan was growing up, his dietary needs were managed by paraprofessionals who kept his food log. Because his condition also manifested in developmental delays, Jonathan also took part in occupational therapy, physical therapy, and speech therapy. But his family worked hard to create as normal a childhood as possible.

It was during this time that Jonathan’s mom began diving more deeply into healthcare. She wanted to know all she could about her son’s disorders. But through her research, she discovered that newborn screening protocols in Connecticut were severely lacking. At the time, the state’s newborn screening panels only tested for eight diseases. She was mortified that measures to screen for and identify serious diseases were available but not being taken advantage of.

Jonathan’s mom immediately reached out to his uncle, a state senator. Together, the pair advocated for more advanced newborn screening laws. Their efforts paid off. In 2008, Connecticut expanded its newborn screening from eight to 29 conditions. Today, the state tests for over 60 conditions, potentially saving countless lives through early detection and treatment. Yet there remains room for improvement. Newborn screening is still not standardized across the country, and what screening some states have access to, others do not.

A Concrete Diagnosis: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

While Jonathan had been living with his diagnosis of a long chain fatty acid oxidation disorder since childhood, a more precise understanding of his condition wouldn’t come until his college years. His geneticist suggested genetic testing to pinpoint the exact nature of his disease.

The test came back with a diagnosis of 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, an ultra-rare autosomal recessive disorder affecting just 20 people (including Jonathan) worldwide. This genetic disorder means that the body cannot break down certain fats, leading to a buildup of harmful substances. From what we know about this condition, symptoms can include:

• Hypoglycemia (low blood sugar)
• Muscle weakness
• Fatigue and lethargy
• Metabolic acidosis
• Nausea and vomiting
• Possible heart or liver problems

To Jonathan, receiving the diagnosis was more exciting than anything else. He shares:

“I wasn’t devastated because nothing had changed. When you get a diagnosis, everyone has the shared experience of mourning. At that point, I had been living with the condition. Getting the name didn’t change the diagnosis. I knew I was lucky to have the opportunity to pursue testing, because some people lose their lives from a lack of healthcare. I was in a very privileged place: access to great healthcare, great insurance, and a great support system. So I felt like this was an amazing opportunity to help others by creating a platform to share the stories of people within the rare disease community. In a world of digital connections, I saw a chance to turn pain into purpose.”

This revelation marked a turning point in Jonathan’s story. He was no longer someone with a rare condition, but an advocate, a voice, and a proponent for change.

Launching the 1 of 20 Podcast

As the world dealt with the uncertainty of the COVID-19 pandemic, Jonathan saw an opportunity. He was in his final year of college and ready to monopolize on his school’s new podcast studio. With a laugh, he shares:

“Like every other person and their mother, I started the podcast on a whim. I had been exploring my own experiences in rare disease, but was also heavily involved with my school’s Dance Marathon to raise funds for the local Children’s Miracle Network Hospital. I came to realize how many people had similar stories to share, but no place to do so.”

At first, podcasting proved harder than expected. Jonathan had to record, schedule, edit, post, identify creative topics, and find guests. But he pushed through, and is grateful he did:

“By the end of 2021, my storytelling skills improved drastically. More importantly, though, I expanded my network, found friends, and cultivated such an incredible community. When you’re chronically ill, and you’re rare, and you have a very layered lifestyle, it can be jarring and isolating. People need somewhere to listen to stories that resonate with them: a nurse who went into healthcare because of her rare disease, a father who is caring for his chronically ill child by himself. A mom whose child has a neurodegenerative disease can inspire someone who isn’t ready to talk about it yet. Offering that space and being such an active part of it is the most wonderful thing.”

Jonathan may be “one of 20” in terms of his specific diagnosis, but his impact extends much further. His work amplifies the voices of people across the rare disease community who often struggle to be heard. Stories on his podcast have included:

• Angela Denton Papazoglou, who spoke about IRF2BPL (her son Yiannis’ rare disease), starting a foundation, and empowering the rare disease community
• Sierra Phillips and Albert Wang, who discussed Sierra’s son’s Warsaw-Breakage syndrome diagnosis and their subsequent development of Librarey
• Justin Najimian, who discussed his hemophilia A and his mission to become a genetic counselor

Jonathan recognizes not just the importance of telling these stories, but the trust that people place in him to do so. He says:

“It is such an honor to share the stories and lives of people I speak with. It’s so important to learn from each other, and my goal is to respect the people—their mind, body, and soul—that are putting themselves out there. It’s sad that we’re connected in this way, but great that we have this community where we can lift each other up. Rare doesn’t discriminate. You can have all the money in the world, and rare disease can still impact you. But my podcast reminds me that this community is also beautiful because of that diversity. We are rare and varied, but we have courage and hope. And that’s the most important thing.”

Advocacy Beyond the Microphone

Jonathan’s advocacy doesn’t stop at his podcast. As a member of the Young Adult Rare Representatives (YARR) with the EveryLife Foundation for Rare Diseases, he contributes to work designed to influence public policy at both state and federal levels. Through YARR, Jonathan participates in monthly meetings, mentors younger advocates, and works to shape policy impacting the rare disease community. He explains:

“Courtney Felle, the YARR program manager, is an amazing individual. And YARR as a whole offers such amazing opportunities to make a difference. I recently met with a young individual in Connecticut who is doing Teen Advocacy Week to teach them how to be a good advocate. During Rare Disease Week at Capitol Hill, I also participate with YARR to speak with my representatives on the work that needs to be done in the rare space. Rare disease needs to be treated like any other category of medical issue and given the platform it needs to raise awareness.”

While his advocacy work is undoubtedly beneficial, what Jonathan leans towards most—and what most fulfills him—is connecting directly with others and giving them the space to feel more comfortable with their disease and their identity. He recognizes that receiving a diagnosis can be grueling and daunting. But he wants people to recognize that they are not alone, and this is not the end of their lives, sharing:

“Your rare disease is not the end of the world. But it’s okay to grieve the life you thought you’d have. Feel everything. As you mourn and adapt, embrace yourself. Your actions don’t need to be big or grand. You don’t have to be the loudest person in the room. If you feel inclined, reach out to others. Listen to podcasts. Read books. Hear stories, even if you don’t feel like sharing. You can simply exist in society. No matter what happens, just find comfort in yourself.”