Organizing Medical Records

Rare diseases can be hard to diagnose and even harder to treat and manage. Over the years, individuals with genetic conditions may see many primary care doctors and specialists at different hospitals. Keeping track of medical records can be a challenge, even for the most organized people.

There are ways to create and maintain a personal medical file. Some people like paper files, others favor electronic files or a combination of the two. Choose whatever works best for you. The most important thing is that the records are easy to access and are up to date.


Electronic Medical Records

For those who are comfortable with online tools, there are personal electronic health record management systems that can help, although we do not endorse a specific product. You can also store scanned paper documents in DropBox or Google Docs.

  • CareZone is a simple and private space where family and care-helpers can stay organized and coordinated by using a shared calendar and journal.
  • WebMD personal health record allows you to securely gather, store, manage and share your own and your family’s health information.

Paper Records

If you would rather keep paper files in a binder or folder, we recommend organizing them by categories (for example, laboratory work, genetic tests, consultation notes from specialists, school evaluations etc.) We also recommend making copies and having back up files available.

In case of an emergency, please remember to take your records with you if you are not able to access them remotely.

  • Rare Caregivers (org) has guides for organizing your patient file, keeping an up-to-date medication list, and coordinating care across providers.
  • The Center for Children with Special Needs ( provides tools to help organize, coordinate and keep track of information for managing your child or teen’s care, and has information on creating a care notebook and care plan (described below).
  • Care Notebook ( is a way to organize your medical files and can include specific information about your strengths, goals of care, and limitations.
  • Care Plans can also be used for explaining your condition and health history.