About O/M
Ollier disease (OD) and Maffucci syndrome (MS) are characterized by multiple enchondromas, which are tumors that typically occur in the bones.
Both disorders feature multiple swellings on the extremity, deformity around the joints, limitations in joint mobility, scoliosis, bone shortening, leg-length discrepancy, gait disturbances, pain, loss of function, and pathological fractures. About 50% of patients with OD or MS develop a malignancy, such as chondrosarcoma, glioma, and ovarian tumors.
ABOUT OLLIER’S DISEASE:
Ollier’s Disease (also referred to as Ollier’s Syndrome, named after French surgeon Louis Xavier Édouard Léopold Ollier (1830-1900)) is caused by genetic mutations, most commonly of the IDH1 and IDH2 genes, causing an overgrowth of cartilage cells forming enchondromas (non-cancerous tumors).
IDH1 (isocitrate dehydrogenase 1) mutation is a genetic alteration that affects the IDH1 gene. IDH1 mutations are typically acquired during a person's lifetime, meaning they are not inherited. They occur when there is a change in the DNA sequence of the IDH1 gene, resulting in an abnormal protein.
National Organization for Rare Disorders definition can be found here: https://rarediseases.org/rare-diseases/ollier-disease/
ABOUT MAFFUCCI SYNDROME:
Maffucci Syndrome is defined as a rare genetic disorder characterized by the presence of benign tumors (enchondromas) in the bones and hemangiomas (benign blood vessel tumors) in the skin. As with Ollier’s Disease, it is a genetic mutation affecting IDH1 & IDH2 genes. Maffucci Syndrome is named after Italian pathologist Angelo Maffucci, who first described the medical condition in 1881.
The Osso Foundation is on a mission to raise funds to support world-wide efforts with our team of doctors and leading researchers within the field of genetics.
Quinn Candee was 5 years old and starting kindergarten when her parent’s, Katie and Dan, noticed the bump on her left wrist was not normal.
After an appointment with our pediatrician we were referred to Children’s Hospital in Denver, Colorado, where we found out Quinn likely has a rare genetic bone disorder. After a round of blood work and X-rays, we decided to go ahead with surgery for a confirmed diagnosis. In December of 2021, after a 4 hour surgery which consisted of tissue sample, bone sample, blood work and an MRI, we had our diagnosis through DNA extraction (Whole Genome Extraction); Ollier’s Disease.
Quinn has 14 enchondromas along the left side of her body including her wrist, ribs, fingers and toes, and ankle. Her right femur and left femur are two different lengths along with her tibia and fibula. The discrepancy between her left and right legs is 0.7 cm and her arm length discrepancy is 10 cm.
In the fall of 2023, our family traveled to Baltimore, Maryland for the first ever Ollier’s Disease and Maffucci Syndrome Patient Summit held at Johns Hopkins University hosted by Dr. Nara Sobreira and her team of researchers. We met with 7 other patients and family members for an extremely moving discussion on Ollier's Disease and Maffucci Syndrome. Most of these patients had never met another person with the same rare genetic disorder each other had, some of their stories are listed here. After the Johns Hopkins Summit, we traveled to Bologna, Italy to enroll Quinn in a clinical trial at the Rizzoli Institute of Orthopedics. Quinn was the first patient from the United States to sign up with the Italian institute for a 20 year study on Ollier's Disease where information will be shared between our doctors and researchers and the researchers at Rizzoli.
Currently, 1 in 100,000 people are diagnosed worldwide with Ollier’s Disease, that number changing with medical advances and testing. We include Quinn’s story, but there are thousands of stories just like ours. This is mostly a childhood disorder with a 50% chance of malignant tumors later in life. There is little research, trials, and medicine and no cure for these genetic mutation disorders.
Quinn’s team:
Nara Sobreira, MD, PhD, Assistant Professor of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University. https://profiles.hopkinsmedicine.org/provider/nara-lygia-de-macena-sobreira/2709022
Nancy Hadley-Miller, MD, Orthopaedic Children’s Hospital Anschutz
https://www.childrenscolorado.org/doctors-and-departments/physicians/h/nancy-hadley-miller/#gmap
Sarah Sibbel, MD, Orthopaedic Surgery, Hand Surgery, Children’s Hospital Anschutz
https://www.childrenscolorado.org/doctors-and-departments/physicians/s/sarah-sibbel/
Dr. Luca Sangiorgi, Rizzoli Research Institute: https://www.ior.it/en/ricerca-e-innovazione/clinical-trial-center
Kate McGinty’s Story - Ollier’s Disease in her words:
I don’t know life without Ollier’s Disease—this is my normal. When I was three, my grandpa noticed my legs weren’t straight. What followed was a maze of doctor visits, incorrect diagnoses, and a moment where my parents were told their toddler might have cancer. Eventually, after weeks of uncertainty, a specialist finally named it: Ollier’s Disease, a rare bone disorder that causes benign cartilage growths, leading to deformities, fractures, and leg length discrepancies.
For me, that meant more than a dozen surgeries at Shriners Children’s Twin Cities, three rounds of external fixators, and years of physical therapy. It also meant learning to drive with a fixator on my leg, while my instructor joked about getting one to be taller.
But here’s the thing—I never wanted pity. My childhood was filled with the same adventures as any other kid. I jumped on trampolines, swam competitively, and traveled to Italy with my classmates. If it didn’t hurt, I did it. And if it did? Well, that was just part of the deal.
Curiosity led me to become a journalist, where I spent years as an investigative reporter for the USA Today Network. Now, at 40 years old, I live in Cincinnati, Ohio, with my husband, Nick, and our cat. I work in content marketing, still driven by the same instinct to ask questions and tell stories.
When I’m not writing, you’ll find me volunteering at the local animal shelter helping rescue pets find their people, traveling to the mountains, or attending concerts.
Living with Ollier’s means I’m still in and out of physical therapy, working to maintain balance between my legs and manage the arthritis in my knees and hip. A knee replacement is in my near future, but I don’t dwell on it. This is just part of taking care of my body—so I can keep doing the things I love.
Ollier’s is a part of me—woven into my body, my mind, and my lived experience. But it’s not the whole thing. It has shaped me in ways both challenging and good, but it doesn’t define me.
People are often surprised when they hear I have a rare disease and more than a dozen surgeries behind me—especially when they see me doing burpees or knocking out push-ups. Ollier’s has made me redefine “strong.” I used to think strength meant smiling through pain. Now I know it’s about confidence, trust, and determination—trusting my body, trusting my mind, and knowing I’m capable.
As for my scars? People joke that I should make up a dramatic story, like a shark attack. But I wouldn’t change my story for anything. My legs, my surgeries, my scars—they’re mine. And I’ll always be their protector.
