As a decendent of lots of inbreeding, I have many expressed recessive "rare" traits. None have proven fatal or longevity-altering (yet), but the anomalies make life and especially medical treatment difficult. I have three named rare syndromes: Branchio-Oto-Renal (BOR) syndrome, Witkops Ectodermal Dysplasia, and Primary Hypercalciuria. I also have significant anomalies in my arterial "plumbing," missing sublingual saliva glands, and moderate osteomalacia (probably a result of lifelong hypercalciuria) with extensive history of low-trauma fractures. While none of these has been life-threatening, they cause a lot of medical confusion (radiographically, pharmacologically, and procedurally). I also have many drug allergies and intolerances, some very serious that could well lead to dire consequences.
Who else has had to manage with a galaxy of odd recessive anomalies?... And what has helped with both coping with these oddities and with explaining these to my medical providers?