Today is Rare Disease Day. There are over 300 Million people living with a rare disease.

A rare disease is when a disease affects fewer than 1 in every 2,000 people. 72% of rare diseases are genetic based diseases.

Sometimes healthcare access can be more difficult for people with rare diseases and that’s why it’s important to raise awareness about the variety of conditions out there.

A Lot of people with rare diseases struggle to access the right supports and also often those with rare diseases don’t fit the direct mold of care offered by the different social services programs out there. There needs to more advocacy around person centered care so people with rare diseases can get the best care possible.

It is difficult for some people who also go undiagnosed for a long time. Access to genetic testing is more available in todays times then it was in the last century. Coverage of testing for Medicare and Medicaid is improving but still needs to be additional advocacy to assure that more tests are covered. Genetic Testing is expensive. We are always discovering new genetic conditions and also more research is being done.

There is a lot more advocacy for funding for research and opportunities for people to share their stories.

There are laws been put in place to stop discrimination with healthcare and employment around genetic information like the Genetic Information Non Discrimination Act (GINA) this law basically bans health insurance companies from discriminating against people who have pre existing genetics conditions found thru genetic testing. It also provides additional HIPAA protections for people.

This law really makes sure that people who have genetic conditions are protected against discrimination. To know 72% of rare diseases are genetic it is great that there are protections in place.

On Rare Disease Day it is also important to talk about access to healthcare. Even though there are laws like GINA in place there is also discrimination in healthcare that isn’t always obvious. Sometimes people face challenges in accessing care that don’t get discussed to often.

With the push for one central EHR System this Electronic Health Record, many people are facing discrimination through dealing with misdiagnosis while waiting to get a proper diagnosis so for some their health information is old, outdated and creates challenges to get appropriate treatment because their diagnosis list isn’t updated and old inaccurate diagnosis still exist.

It isn’t easy to ask for amendment or change to a health record. Some people as gas lighted by doctors while seeking treatment for the amount of diagnosis they have or treated like their conditions are mental health related and this leads to people not getting adequate treatment and care.

The EHR system was designed to connect the dots in care and help people see health records from every where to piece together records scattered across multiple health systems.

For some people with Rare Diseases this system is nuisance or a hinderance to get their records corrected without someone else entering in old inaccurate information. For some it helps to connect the dots and some doctors now refuse to take old records forgetting that before the EHR that there are valid health records.

There must be continued advocacy for care coordination and person centered care for people with rare diseases. We need to make it more accessible to amend health records to get inaccurate information removed and the correct information updated.

The ability to have up to date health information at our fingertips is important part of care coordination so if stops medical waste and people from going thru unnecessary procedures or treatment.

Raising awareness about rare diseases also helps doctors understand how people live with the conditions they have and how to improve outcomes for those living with a rare disease.