Our mission at Ben’s Friends is to ensure that patients living with rare diseases or chronic illnesses, as well as their caregivers, family, and friends, have a safe and supportive place to connect with others like them.
Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body’s cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss.
Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.
LivingWithFabrya.org is a virtual peer-to-peer community intended to be a safe place for patients and family members as young as age 12, to visit for information, discussion, venting and mutual support. Members come from many backgrounds. Some have a strong religious faith, and others no faith; some are children and others adults, rich and poor, graduate educated or taught by life. Our common denominators are that we share a life journey, and we try to help each other.
Though we get occasional visits from medical doctors, the site is not routinely supported by medical professionals. Nobody here can diagnose you or tell you what your treatment choices “should” be. We might inform your choices by sharing individual experiences and information developed by study as lay people. But LivingWithFabry.org is not intended to replace the advice or treatment of licensed medical professionals. Readers should validate any information they take away from here, against the experience of a licensed medical doctor. Site owners and moderators are not legally responsible for the accuracy of information shared on the site.
We don’t want you to identify yourself or tell exactly where you live: it is important to us that you should be anonymous here. That encourages openness. (And that’s a major way that we’re different from social media and other disease support sites.) Nevertheless, visitors should also be aware that our discussion forums and groups are publicly accessible and frequently searched by Google. That’s why your speech here should be considered “public”. If you’re tempted to write something about another person that you wouldn’t say to their face, then we counsel you to think first. Speech can be consequential.
LivingWithFabry.org is supported by unpaid volunteer moderators who validate and register new members and monitor ongoing discussions, photo postings and blogs. Very often, moderators are themselves patients or family members of patients. Most of the time, moderators tend to keep a low profile, except in their roles as members of the community, especially if they are well-informed about the state of medicine and research.