Rare disease patients have extraordinarily difficult challenges, starting with a long and arduous journey to find a diagnosis. But once patients have found a name for their pain, it doesn’t mean the hard part is over. A diagnosis does not mean it is easy to find a healthcare professional and facility that can provide optimal treatment. That process can take months or years, and may involve traveling a significant distance on a regular basis to visit a healthcare provider with the right expertise, if one even exists.
Needing to go outside their community for treatment contributes to the at times overwhelming feeling of isolation. There is often no patient and caregiver community to provide emotional support and coping advice. Those around them who do not have their disease cannot understand their physical and psychological stress, so patients feel they are struggling all alone. If their symptoms are debilitating, they may be too unwell to engage in social activities, leaving them lonely as well as sick.
Isolation is part of the stress of living with a rare disease. Add to that the strain of watching of their health decline, no matter how hard they try to follow their treatment regimen. The financial burden of co-pays, prescriptions, tests and over-the-counter purchases can be crippling. And even getting to the doctor’s office, for many people without access to regular transportation, can be overwhelmingly difficult.
Living with rare disease is a multi-faceted Herculean challenge.