How do I find a center of excellence in Bardet-Biedl Syndrome?
One well-known center of excellence for Bardet-Biedl syndrome is Marshfield Clinic in Marshfield, WI. Its website has information on the clinic as well as other resources: https://www.marshfieldclinic.org/services/bardet-biedl-syndrome-(bbs).
If one is unable to travel to the Marshfield Clinic, nearby clinics and specialists may be researched online and sought out by talking with one’s doctor; also helpful is getting in touch with nearby families with a child or family member with Bardet-Biedl syndrome (http://www.bardetbiedl.org/).
More information on finding specialists for rare diseases can be found at the Genetic and Rare Diseases Information Center (GARD): https://rarediseases.info.nih.gov/gard/pages/25/how-to-find-a-disease-specialist.
More Healthcare/Doctors Content
What specialist doctors should I see with Bardet-Biedl Syndrome?
Specialists whom those with Bardet-Biedl syndrome should see include:
- Ophthalmologist (for eyes)
- Endocrinologist (for hormone levels)
- Medical Genetics
- Nephrology (for kidneys)
- Occupational, physical, and speech therapy as needed
- Urologist (for urinary tract)
- Reference: Forsythe, E. & Beales, P.L. (2012). Bardet-Biedl syndrome. European Journal of Human Genetics 21: 8-13.
If I have Bardet-Biedl Syndrome, what should my doctor know about managing the deficiency?
Doctors should be aware of all medications those affected are using to treat their symptoms and that they should not take medications contraindicated for people with kidney impairments. By virtue of the large number of specialists whom someone with Bardet-Biedl should see, it is important that all each doctor be informed of the other tests, results, and follow-ups ordered by each specialist.