Medical Research Charities > News > Never Alone // Celebrating Rare Disease Day

Never Alone // Celebrating Rare Disease Day

Today is Rare Disease Day, and we’re excited to share a story with you from one of our favorite bloggers. Ellen Painter Dollar writes about her journey with Osteogenesis Imperfecta (OI) – a rare genetic disorder characterized by bones that break easily. Her story inspires us and reminds us why it is so important to fund medical research for rare and uncured diseases.

//

I was 37 years old and eight months pregnant with my third child when I went to an orthopedist for a serious knee injury. This orthopedist was new to me, and I to him. I have osteogenesis imperfecta (OI), a rare genetic disorder causing fragile bones and other musculoskeletal problems, and had interacted with orthopedists throughout my life. But since moving back to my hometown shortly after I got married, I had no major OI-related problems and therefore hadn’t yet linked up with a new doctor. When something in my knee tore one day about a month before my son’s birth, sending bolts of pain through my leg with each step, I had to find a doctor fast, and hope whomever I found would be decent.

My appointment lasted all of five minutes, during which the orthopedist did not so much as glance at my knee. He claimed that because of my advanced pregnancy, nothing could be done, so I should, “Go have your baby and come back if it’s still bothering you after that.” While I knew that my pregnancy would preclude certain diagnostic tools and treatments, I also knew that a tentative diagnosis based on a physical exam and some basic interventions were possible. After all, if I had come in with a broken bone, I would have gotten treatment, however limited.

The doctor’s unwillingness to look beyond my swollen abdomen to see what he might do to ease my distress was frustrating. What came next was infuriating. The doctor looked me in the eye and said, “Huh. I always considered OI to be a childhood disorder.”

I was so stunned by this gem of ignorance that I said nothing. I’ve spent the last 10 years, however, considering what I should have said: “Did you miss the day in medical school when they explained that genetic disorders don’t actually go away?” Or, pointing to my pregnant belly, “Do I look like a child to you?” Or the short and simple, “Huh. I consider you to be an idiot.”

One of the biggest challenges of living with a rare disorder such as OI is realizing that even professionals with top-notch education and training can be profoundly ignorant of our condition. Actually, it’s not professional ignorance that’s so hard; after all, no medical practitioner can know everything about everything. It’s ignorance combined with hubris, ignorance combined with a failure to recognize their own ignorance.

Over the years, the nonprofit Osteogenesis Imperfecta Foundation (OIF) has occasionally asked me to talk with parents of newly diagnosed babies, to provide information and support. One question that new parents always ask is how to find a doctor who knows a lot about OI. I always respond that finding an OI expert will be difficult or impossible, depending on where you live. But, I add, the most important quality to look for in your child’s caregivers isn’t expertise, but humility. Look for doctors (and other practitioners, such as physical therapists and special educators) who know what they don’t know, who are willing to learn, and who will accept that you and your child are among the experts they should consult in managing your child’s care.

In my nearly five decades of living with OI, and parenting my now 16-year-old daughter who also has OI, I’ve been lucky to connect with many kind, smart, and yes, humble physicians. The orthopedist who refused to treat my knee and so blatantly revealed his ignorance about my condition is fortunately one of only a few practitioners who have exacerbated the pain of living with OI by failing to provide quality, thoughtful care.

The good news about OI is that in recent years, new developments in surgery, medications, education, and equipment have given all of us, practitioners and patients alike, plenty to learn, and people with OI are living healthier lives as full participants in our communities. The OIF, as the premier U.S. organization serving those living with OI, has been a vital source of updated information, medical referral, and support for our family and thousands of other families affected by OI.

My baby—now 10 years old—was eventually born, and my knee eventually repaired by a wonderful orthopedist who is knowledgeable, compassionate, and always willing to talk things through, learn from me and my experience, and seek answers to new questions. As I’ve gotten older, I’ve had more and more OI-related problems, including arthritis, osteoporosis, and chronic pain. In partnership with my doctors (including an osteoporosis expert and pain management expert in addition to my orthopedist), the OIF, my family, and others living with OI, I work every day to improve my health, raise my children, maintain a marriage and household, and write. Life with OI may be rare, but I am not alone.

//

Dollar_Ellen_jw 46 - low res

Join Ellen by raising awareness and supporting medical research for rare diseases like OI. Learn more and donate to the Osteogenesis Imperfecta Foundation to fund the discovery of new treatments and cures that can change lives.