‘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...

The situation in our hospitals is getting more chaotic so managing and advocating for rare disease care is even more challenging.  A hospital is a challenging place for a rare disease patient at any time but the 'no visitor' rule has complicated communication and the ability for a loved one to help advocate for your care. 

Your PCP refers you to a specialist, let's say they are a headache specialist named Dr. H (for headache), to get help with your migraines that are common with your rare disease.   Dr. H has no experience with your rare disease but is a headache specialist.  

After seeing Dr. H, your PCP shares with you Dr. H decided that you don’t really have migraines and that you are a drug seeker. 

Now what?

We all know that our PCP’s are helpful when we have strep throat or need a referral to a specialist.  But to be fully supported there are additional roles that are critical for your PCP to be engaged and willing to perform.

1.  Collaborative Partner

“Collaborative Partner - two or more parties engaged and working together on the same activity”

How many times have you brought up an issue only to have your PCP dismiss it and move on to their next item?

You are the main stakeholder in this...

Have you heard about the new anaphylaxis management algorithm?

If you or someone you love has had anaphylaxis that required an epi-pen, it is likely that you were told to call 911 and immediately go to the ER for observation.

Last week, FARE updated their recommendations to include COVID-19 into the risk/benefit balance of monitoring at home vs. an ER visit. This is especially important in areas where ERs are swamped with COVID-19 patients although most ERs have new procedures to screen for COVID-19 when getting checked in along with a focus on minimized time spent with any patient to lessen risk of transmission. 

As you can imagine, these new recommendations have caused a bit of controversy and concern in the food allergy and mast cell disease world.

Let’s take a closer look at the new recommendations and why they are being made.

Dr. Thomas B. Casale, the chief medical advisor for operations with FARE (Food Allery Research & Education)  and...

 Rare Disease Patients are...

1. Pros at limiting infection and cross-contamination, sporting facemasks, washing hands, and effective cleaning
2. Experienced at social isolation including homeschooling, and other creative options, work from home solutions and, finding support online
3. Used to handling emergencies, monitoring symptoms at home, and employ multiple rehydration techniques
4. Familiar with doing research by reading research articles, crowdsourcing ideas, and resources 
5. Practiced at treasure hunting food, supplies, meds and necessities (TP anyone?)  
6. Stocked with medical equipment and supplies to rival a medical supply company  (BP cuff, pulse ox, electrolytes, etc) 
7. Blessed with Mad MacGyver skills to adapt and figure things out.  
8. Experts at knowing our own bodies, symptoms, medical history, meds, and what we need
9. Ph.D.s in dealing with red-tape and bureaucracy
10. Resilient, used to living with...

Depending on where you live, how much you follow the news and your general personality type, you may or may not be concerned about COVID-19. Panicking doesn't help anyone but being prepared may help and certainly won't hurt. 

There are a lot of general recommendations out there but here are several specific ways that you can prepare as a rare disease patient. 

1.   Get extra prescription and OTC meds to have on hand. 

• There is the potential for drug shortages based on the amount of medication we import that gets produced in India with ingredients coming from China. As reported in The Wall Street Journal If Coronavirus-Stricken China Can’t Export Medicine, the World Is in Trouble,  "China is the source of a large percentage of basic drug ingredients."  Most drug manufacturers keep a 2-3 month supply on hand so hopefully, the Chinese factories will be back online before it becomes a big issue. But, given that rare...

If you have been seen at a teaching hospital you have likely been seen by a medical student or resident prior to seeing the (attending) doctor.  They meet with you first and their job is to take your history and present it to the doctor.   Sometimes it goes well but too often it ends up a bit like a game of telephone where your original message is distorted and garbled when it gets to the doctor. 

Let's look at one aspect of what is going on here and why things sometimes go awry.

Chief Complaint

Have you ever thought about the process or framework a doctor uses to get information from you in an interview?  Did you know that they are all taught this framework, the medical interview, in medical school and they continue to use it throughout their career?