‘If you have any issues, don’t bother going to the ER.  Just go home and die.’  

Teri had lost her cardiologist and was meeting a new one when he said this to her.

Can you imagine?

Sadly, I’m guessing you don’t have to imagine it - you’ve probably experienced something like this too. 

As a rare disease patient, dealing with the medical system can be both hard and harmful.

Let’s talk about 3 reasons why it is so very important to learn how to navigate the medical system and to step into being your own advocate.

1.  Difficulty of finding doctors

Rare diseases are well...rare.  Many doctors don’t know about them or have limited and/or incorrect information about them. 

Teri’s cardiologist knew enough about her rare diseases to recognize their complexity but not enough to appropriately handle her care which was arguably worse than not knowing.

Too often, doctors feel that they can ignore the...

You, my friend, are on a journey...

Your destination is rare and not well known.

Your destination is so rare...you need a guide to get you there.

You look around, see a guide and hire them.

But most guides don’t know about the destination, don’t believe in it or they’ve heard about it but try to dissuade you from going there.

One says they know the destination and the way to get there so you hire them and follow them only to find out it wasn’t the right path.

Now you are farther away than when you started.

You have bruises and cuts from being led down that wrong path. Often left to deal with the resulting trauma.

You are frustrated, hurt, angry, irritated, and ready to give up...but you know you need to get to that rare destination.

You discover some locals who have been down the path to a similar rare destination...finally, you find someone who can help point you in the right direction.

You start learning about that rare destination - what it means to you...

Do you know what is in your medical records?

You have probably been told that it is important to get and review a copy of your medical records.  Up until now, it’s been expensive and often challenging to get them. 

For those of us in the US, a big change happened in April 2021, that gives patients online access, without delay, to the medical notes in our medical records. 

Federal Rules Mandating Open Notes

Beginning April 5, 2021, the program rule on Interoperability, Information Blocking, and ONC Health IT Certification, which implements the 21st Century Cures Act, requires that healthcare providers give patients access without charge to all the health information in their electronic medical records “without delay.”

https://www.opennotes.org/onc-federal-rule/ 

What are medical notes?

Medical notes are written by the medical providers as a way to document the appointment and as a communication tool with other providers. 

In the past, they...

After months of discussion, you finally talk your PCP into sending you to a specialist.  You are expecting a call from the new office but it never comes.  You call to follow up and try to schedule the appointment yourself but they tell you that you can't schedule it without the referral. 

You call the PCP office but they don't call you back.  You are stuck in limbo waiting on your PCP to complete the referral.  Every day you wait means a longer wait until you get to see the specialist.  

Finally, you see the specialist and they have no idea why you are there - your PCP gave no indication of why you were being sent there. 

The specialist writes a dismissive summary of you and your issues, maybe even undiagnosing you of your other rare diseases. 

Why does this happen?   In this case, your PCP was not filling the crucial roles that help you get the care you need. 

We all know that our PCP’s are helpful when we have...

Getting rare disease care has never been easy but with the coronavirus outbreak, it has become even harder.  Clinics are closing, surgeries are being rescheduled and long-awaited appointments are being postponed.  

Many of you may have had things canceled or postponed.  As disappointing as this is, it is important to realize that this is being done to help our medical system handle the coronavirus outbreak from a logistic point while also trying to optimize your safety as well. 

Your doctor, their clinic and/or hospital will be following recommendations by the CDC (Center for Disease Control) and ACS (American College of Surgeons) along with careful consideration of your specific medical case to decide what can and should be rescheduled. 

 
Our doctors were struggling to survive in a broken medical system before but now they are entering the totally unchartered territory of providing medical care during a pandemic.  The medical system...