- Did you know that some doctors stop treating rare disease sufferers just because they feel they can do no more to help the patient?
- Did you know that much of the information about rare diseases is only accessible to experts?
These are some of the issues facing the rare disease patients and their parents or caregivers. Undoubtedly, the rare disease patient has a wealth of information on their particular disease that needs to be collated and evaluated and most importantly shared widely within the patient and the medical community for the benefit of all involved.
Sometimes though, even when such data is available to the rare disease population, they might not always understand its medical significance. Additionally, there might be very few experts that can make real sense out of data, especially the data generated from genomic sequencing.
For these reasons and more, invariably rare disease communities are left without the ability to advocate for diagnoses and therapies. Fortunately, there are regulatory reforms that can benefit both rare disease patients and the scientific/medical community.
For more information about the problems, potential regulatory reforms, and their predicted impact on medical professionals, read Karla Lant’s (of Rare Genomics Institute) article on “Rare Diseases and Regulation: What Is Needed To Educate Medical Experts, Patients?”.