Common Problems for patients and families of patients with rare and ultra-rare diseases are:
Lack of access to correct diagnosis;- Delay in diagnosis, sometimes decades;
- Lack of quality information on the disease;
- Lack of scientific knowledge of the disease;
- Heavy social consequences for patients and their families and caregivers;
- Lack of appropriate quality healthcare;
- Inequities and difficulties in access to treatment and care;
- Lack of political support because the rare disease community is fragmented;
- Ignored in policy making;
- Huge cost or fights to get orphan drugs used to treat symptoms to some extent;
- It is possible that every medical professional you see will never have treated the disease before.
