Today, as we mark World Pediatric Bone and Joint Day, we want to highlight one of the bone diseases within this spectrum—Osteogenesis Imperfecta (OI), a genetic condition that leads to fragile bones and other related complications.
While OI affects individuals in different ways, each journey to diagnosis is unique and often challenging. To shine a light on the patient experience, we’re sharing the story of Jessica Bugarin, curation scientist and our colleague at Genomenon, whose personal and family diagnostic odyssey serves as a powerful reminder of the importance of genetic testing and advocacy. Read on as Jessica takes us through her path to understanding her diagnosis and its impact on her life and her family.
Q : Can you walk us through your journey to receiving an accurate diagnosis?
A: My path to a diagnosis has been anything but straightforward. For most of my life, there was an uncertainty that hung over my family—a genetic issue that affected multiple generations yet remained undiagnosed for years. It wasn’t until recently that I finally discovered I had osteogenesis imperfecta (OI), a rare genetic disorder that had subtly affected my family for generations.
Q: How did your family’s medical history contribute to uncovering your OI diagnosis?
A: Family stories were a big clue, and growing up, OI was a common name in my household, which is why I did not realize it was a rare disease until I entered the field. My great-grandfather lived with fragile bones and frequent fractures, although his condition was never clinically confirmed. My grandfather was diagnosed with OI in his youth after suffering multiple fractures and displaying other symptoms like bluish-gray sclera, thin skin, and short stature. My mother and younger brother also had OI symptoms, such as frequent fractures and hypermobility, but it was never officially recognized in them. It was just something that was common and accepted as kind of a “quirk” in my family.
Q: When did you first start noticing symptoms of OI in yourself?
A: I began noticing signs as a child. I had extreme hypermobility, which made playing the piano easier because of my wide reach. Prior to my fractures, I used to also enjoy yoga as I realize now my hypermobility made it quite easy for me. Looking back at baby photos, I noticed I had not only very blue pupils but also extremely blue sclera! Relatives have since told me people used to stop them when we went out to comment on how blue both my entire eyes were. I also experienced frequent fractures, myopia, and dental issues like cracking teeth. It wasn’t until my late twenties that fractures became more frequent and severe - I broke my left leg twice during graduate school. At first, I thought these were just freak accidents, but as they increased in severity, I suspected something more serious was happening.
Q: How challenging was it to receive your OI diagnosis?
A: It was a long, frustrating process. I visited numerous physicians, but most were skeptical. They doubted the likelihood of osteoporosis in a young woman and were reluctant to consider OI. I was constantly told the disease was “too rare”. Even after I had a DXA scan confirming severe osteoporosis, physicians still hesitated to refer me for genetic testing. It wasn’t until I insisted and sought out genetic counseling myself that I finally got tested and received the COL1A2 c.478G>C (p.Gly160Arg) variant confirmation.
Q: How did this diagnosis change things for you?
A: The diagnosis brought both relief and frustration. On one hand, I finally had a name for what I was experiencing and a better understanding of my symptoms. The relief, I think, comes from the fact that I now feel very validated and what I was seeing and experiencing was real. I also feel that I validated the experiences of my relatives before me, especially my grandfather, whom I was very close to and I wish I could tell him all about it. On the other hand, it was infuriating to think of how many years I spent seeking answers. The hardest part was knowing that this genetic condition had been passed down through my family without anyone realizing it.
Q: How did your family respond to the news of the genetic testing?
A: My mother, despite showing symptoms of OI, was reluctant to get tested. She had a fear of genetic testing, worrying that it might reveal something even scarier, like a predisposition to cancer. This fear, though, is common, and I think it holds many people back from getting the answers they need. My grandmother was shocked, as when my grandparents were family planning, they were told by a physician that females could not get OI. It’s something she had to grapple with for awhile, but I think she’s finally coming to terms with it.
Q: What advice would you give to others facing a diagnostic odyssey like yours?
A: My advice is to be persistent and advocate for yourself. I was lucky to have a background in genetics, which gave me the knowledge to push for testing, but that isn’t the case for everyone. It’s important to trust your instincts and not let skepticism from physicians discourage you. Genetic testing can be the key to unlocking answers about your health.
Q: How has understanding your genetic condition shaped your outlook moving forward?
A: Knowing my diagnosis has given me a framework for managing my condition and advocating for my health. While I still face challenges, understanding my genetic history has empowered me to take control of my health and help my family do the same. I’d also like to note that my genetic disease does not define me, and I haven’t let it hold me back from accomplishing my goals and dreams – like completing graduate school, going to Disneyland and getting married after having to postpone my wedding due to a broken femur!
