The Mighty Logo

Rare Disease Doctors Are Struggling. Here's 3 Ways Patients and Families Can Help.

The most helpful emails in health
Browse our free newsletters

Editor's Note

Join The Mighty’s Spoonie Life Hacks group to get tips for tackling everyday tasks from people living with chronic illnesses — or to share your own hacks!

If you have been in the rare disease world for any length of time, you have likely heard of a rare disease expert who has closed their practice, retired from patient care, been pushed out of a larger organization, or opened a private pay clinic.

Experts like Dr. Korson dealing with mitochondrial disease, Dr. Afrin working with mast cell diseases, Dr. Boris and Dr. Schofield focusing on autonomic issues like POTS, and many others, have left, leaving even more patients without appropriate or even adequate care.

The sad part is that it is rarely the doctor’s choice to step back from rare disease patient care. Often, the rare disease doctor’s practice is seen as “too risky,” “too controversial,” or “not productive enough” because of long appointments and high resource needs, meaning they are often not financially lucrative.

Why does this keep happening and what can we do to help our rare disease experts help us get the care we need?

Let’s start by looking at the reasons our rare disease doctors are having such a hard time and often leaving direct patient care.

Reason #1: There are too few doctors for the number of rare disease patients, making it is hard to provide quality care in a timely manner.

With more than 7,000 rare diseases and 25 to 30 million people living with rare diseases, there is a huge need for rare disease doctors.

Doctors and organizations choose their specialty on a variety of factors that include difficulty, risk, and profitability. Unfortunately, rare diseases tend to “fail” in each of these categories.

Rare diseases are complex, difficult to diagnose and treat, and are time-consuming for doctors and their staff.

With few, if any approved treatments, off-label treatments are common but require more justification, insurance fights and can create a higher risk both to doctors and organizations.

Patients require coordinated, complex care that adds cost and stress to a system that is optimized for making money and not caring for complex patients.

This makes treating a rare disease patient more challenging, time-consuming and resource-intensive resulting in rare disease specialties being less appealing.

Reason #2: It seems like the system is stacked against them, not only against rare disease patients.

As rare disease patients, we experience issues with the system although these issues may often be mistaken as coming directly from the doctor, rather than the organization or larger system where they originate.

Rare disease doctors are also fighting against health care system issues including short appointments, the pressure to produce and make money, a  lack of overall support for complex patients, and a general bias against or disbelief in rare diseases.

Our cutting edge, rare disease doctors who are willing to be the early adopters on rare disease diagnosis or treatment are swimming upstream, often without financial or organizational support, and therefore easily pressured or forced to stop treating rare disease patients.

Reason #3: Rare disease doctors want to help rare disease patients, but they also have great pressure on them.

I believe our rare disease doctors want to help rare disease patients. It’s easy to forget that they want to help when we are having our own struggles trying to get care.

Most of our doctors have chosen to work in a field that is more challenging than most, that deals with very sick patients who seldom are “cured,” and in a field that requires more time with less money and prestige.

Even rare disease doctors are human and feel pressure on their time, their reputation and their bank accounts which can lead them to the ultimate decision to leave rare disease patient care.

So I’d like to give a big “thank you” to all the rare disease doctors who do choose this path.

What can we do to help our rare disease doctors?

Here are three tips that we as rare disease patients can use to help our rare doctors.

1. Find a local doctor who is willing to learn and work with your rare disease specialist.

I know, I know… you are going to tell me that you tried this and the doctor didn’t want anything to do with the rare disease expert or even the rare disease.

Well, I’m here to tell you that there are doctors out there who will not only be willing to do this, but will be excited to be learning and working with your rare disease expert!

The secret is that you have to find the “right” doctor and ask them in a way that they understand their role and can say “yes” to being a part of your medical team.

Is this easy or quick?

Not necessarily, but it is important. Not only does your care improve, but the rare disease doctor is supported while teaching and sharing their expertise with another doctor.

2. Understand and appreciate the challenges they face in treating rare diseases.

Remember that our rare disease doctors are facing extra challenges just because they are treating rare disease patients.

Use this insight to find ways to help them do their job, to discuss how to communicate, to be collaborative, to be understanding that they are overworked and understaffed for the complexity of care that they are delivering.

Acknowledging the extra work required or the complexity of your case or even a sincere thank you helps the rare disease doctor know that we are in this together.

3. Focus on your goal to make it a win-win situation for you and your rare disease doctor.

Your goal is to get the care you need. Rare disease doctors’ goals are to help those living with rare diseases.

Of course, not all doctors will be a good fit for every patient whether due to personality issues, needing care outside of the box, or a difference in goals – but that is OK.

Think of it as dating, and that you may have to kiss a few frogs before finding “the one,” but it is well worth it looking for the right doctor to work with.

I find that moving on and looking for the “right” fit is more productive for everyone, than blaming the doctor.

And when you have found “the one,” you get the care you need and the doctor gets the satisfaction of working with and helping a rare disease patient: a win-win for everyone!

Together we can understand the enormous challenges our rare disease doctors are facing and work together to help keep more of them around and able to work with us.

This story originally appeared on Healing Hugs Haven

Originally published: May 22, 2020
Want more of The Mighty?
You can find even more stories on our Home page. There, you’ll also find thoughts and questions by our community.
Take Me Home