What types of doctors or specialists are best suited for working with me on this disease?
Rather than one doctor, it may be better to gather a team of medical professionals and service providers to work with you on a treatment plan for your Fibrous Dysplasia because FD often affects people in different ways. For instance, in addition to your internist or general practitioner, you may need the services of many other specialists based on the seriousness of your particular circumstances and effected areas of the body. The following is a partial list of specialists and related areas of practice: (Please note: this is a suggested list only and does not take the place of medical advice.)
Jawbone, Skull (facial bones)
Craniofacial surgeon (with experience in plastic and reconstructive surgery)
Otolaryngology (ENT or ear, nose, and throat and problems related to sinuses)
Neuro-opthamologist (to monitor vision and optic nerve issues, and test peripheral vision and depth of field)
Endocrinologist (with specialty in bone-related conditions)
Center for Pain Management
Internist/Primary Care physician
Psychologist (note: cannot prescribe medications and meets to discuss emotional issues relating to illness, moods, and/or problem behaviors using cognitive/intellectual methods
Psychiatrist (prescribes medication and focuses on physiological needs of the body in regard to controlling moods and behaviors rather than relying on using the intellect to attend to emotional issues, moods, and/or problem behaviors)
Primary Care physician (to help manage/match medications to personal health status)
Alternative Care (to supplement medical care and for personal comfort)
Massage therapist (pain management)
Acupuncturist (pain management)
Physical therapist (exercise/strength training/rehabilitation for overall reconditioning
Occupational therapist (exercise/training for particular skills)
Nutrition Counselor/Dietician (to help manage weight issues, issues connected with healthy eating)
Health Club (for maintaining physical conditioning and to relieve stress)
Stress Management Program (to develop strategies for coping with stress related to chronic illness)
At what point should doctors or specialists be consulted?
It is probably best to see specialists shortly after diagnosis to get complete understanding of what aspects of the disease are present, and which are not. Try and get a sense of your doctor's experience with FD or MAS. If he or she is inexperienced (or even if he or she isn't), it's often good to get second opinions - especially if a procedure, operation, or medication is being recommended.
What research is being conducted for Fibrous Dysplasia?
The most active centers doing research in FD are the National Institutes of Health (Bethesda, Maryland), The Shriners Hospital (Montreal, Canada), INSERM (Lyon, France), and Institut National de la Sante et de la Recherche Medicale (Montpellier, France).
Medical research is currently focused on drugs in the class of drugs called bisphosphonates (pamidronate, alendronate, zoledronate, etc.). Future research may include new medications and cell therapies.
What tests are most commonly performed for Fibrous Dysplasia?
A total body nuclear medicine bone scan is the best test for getting a picture of what areas are involved with FD. X-rays are often the best for viewing disease in the long bones (legs, arms, etc.). A CT scan is the best way to asses FD in the skull. Ultrasound tests of the thyroid, testicles, and ovaries can sometimes be useful.
Blood tests to asses for levels of phosphorus, calcium, and other hormones are also critical. It is escpecially imporant to assess for the presence of excess growth hormone, as this can worsen FD in the skull.
It is important to have vision (including visual fields) assessed by a neuroophthalmologist. An assesment of hearing is also sometims useful.
See the Orphanet article found in the library for a detailed list of recommended testing.