I survived over 30 pulmonary emoblisms and a saddle embolism. I have restricted activity, but look like everyone else. I struggle to breathe all the time. Not a rare disease, but a disabling disorder.
My nephew has Mobeus Syndrome. This involves facial paralysis, sometimes known as the "kid without a smile." His sister was born with only a big toe on one foot.
Our family has multiple health issues. My heart and prayers are with you all.