FAIR FOR RARE: Neroli's Story
My story focuses on the difficulty as an adult of orchestrating appropriate, and sustained, multidiscriplinary care.
I have a rare bone disorder called osteopetrosis. Where most people’s bones are constantly being remodelled to keep them healthy and supple, this process does not happen efficiently in people with osteopetrosis. Consequently, our bones are very dense but also brittle, and bone marrow may be affected as well.
Rather unusually, I was diagnosed as having osteopetrosis just three weeks after I was born, and was then placed under the care of teams of paediatricians, orthopaedic surgeons and neuro-opthalmologists throughout my childhood.
My 20s and 30s were interrupted periodically by fractures, for which I’d see the relevant orthopaedic surgeon, wait for the bones to heal, and then get on with my life. In my mid-30s I had both hips replaced, alleviating what had become severe and disabling osteoarthritic pain.
When I hit my 40s, the disorder started intruding more forcefully on my life. I’d fracture a rib simply by sneezing or coughing. Other fractures were triggered by similarly minor impacts. My haemoglobin and platelet counts dropped well below normal ranges, and I began to have problems with chronic bone infections in my jaw.
As the disorder began to affect more of my body systems. The list of doctors involved in my care grew to include specialists in haematology, rheumatology, infectious diseases, oral and maxillofacial surgery, endocrinology and pain management.
One thing I have found especially frustrating as the disorder has worsened over my life, is the struggle to ensure that the necessary specialists communicate with each other. This is fundamental to the provision of quality health care, and failures in this area – that is, cross-disciplinary and/or cross-system communication – have had severe consequences for me in several instances.
I am well educated about my condition, but have found this an inadequate defence against health-care systems that are ill equipped to deal with chronic conditions; bureaucratic and technological obstacles to information sharing among health professionals; and poor record keeping by some of those “professionals”.
My experience, in short, is that while there was plenty of support when I was a child (mainly due to the paediatricians directing my care), there is little as an adult, and it is up to you to try to establish multidisciplinary care teams. Doing so is time-consuming and exhausting, and this is one of the areas where I hope RVA’s advocacy efforts will make a much-needed difference.