If you have been in the rare disease world for any length of time, you have 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 dealing with mitochondrial disease, mast cell diseases, autonomic issues like POTS, and 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.
Why does this keep happening and what can we do to help our rare disease experts help us get the care we need?
Reason #1: There are too few doctors for the number of rare disease patients so it is hard to give good care in a timely manner.
With 7000+ rare diseases and 25-30 million people living with rare diseases, there is a huge need for rare disease doctors.
Doctors and organizations choose their speciality on a variety of factors that include difficulty, risk and profitability. Unfortunately, rare diseases fail in each of these categories.
Rare diseases are complex, difficult to diagnose and treat, plus 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 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 while making the rare disease specialties less appealing.
Reason #2: The system is stacked against them, not only against rare disease patients.
As rare disease patients, we experience system issues although we often mistake the issues, as coming directly from the doctor rather than the organization or larger system.
Rare disease doctors are also fighting against system issues including short appointments, pressure to produce/make money, 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: They have similar goals to rare disease patients.
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.
The bottom line is they want to help us.
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.
Thank you to all the doctors who choose this path!
So what can we do to help our rare disease doctors?
Tip #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 and not only does your care improve but the rare disease doctor is supported while teaching and sharing their expertise with another doctor.
Tip #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. (I will go into more detail and depth in future blog posts.)
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!
Tip #3: Focus on your goal to make it a win-win situation.
Your goal is to get the care you need…rare disease doctors goal is to help those with rare diseases.
Of course, not all doctors will be a good fit for every patient whether due to personality issues, being outside of ‘the box’ of what the doctor treats, or 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 worth it when you find them.
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 ‘the right doctor’ you get the care you need, the doctor gets to help a rare disease family – a win-win for everyone!