What Rare Disease Patients Want Doctors to Know

Receiving a diagnosis can be difficult, and when you add into the equation that it’s for a rare disease, it can be a very lonely and isolating time. There is an overload of information to process, and people process this news in different ways. Some will turn to Google; others will find online communities to learn more about their diagnosis.

But just as no one is absolutely alike, responses to a diagnosis will be different. That’s why it’s important to consider the patient perspective and in a nutshell, “read the room.”

This is what patients want you to know about their diagnosis.

Different People Need Different Things

Some people will want all the facts all at once, and others will need time to process. Ask your patients what they want to do with the news – and offer different options. It can be as simple as following up with a phone call or email later, as we all digest news differently.

Ensure that you can offer resources, even if it’s a printed out information sheet. But in return, don’t be surprised if the patient doesn’t take it immediately.

It’s really about learning to read the room, find out what the immediate needs of the patient are, and in the near future about what resources, support and information they may need. Check in on them, and offer support.

Patients Need Time to Process

Even with all the best information and the best connections, there will always be a time where a patient wants to take away the information, the diagnosis, even the emotions and get their minds into place. Some people are ready to talk straight away, but others will need a moment to take the time and process.

It can feel that in this day and age that things can be rushed, and virtual bombs are dropped on you when you receive a diagnosis. Some patients will walk away and look up information for themselves to figure out their own version of the information. This is also where it’s important to connect, and validate their concerns. Ask them what information they’ve found, and talk them through it.

Take the Time to Explain

It’s an extension of the last point, but I think it’s worth expanding on. Check the understanding of your patients, and take the time to explain the crucial aspects. It can be as simple as a followup call, or checking in at the next appointment.

It’s also important to realise that patients do want to know the details – this is where these followups are important to have the chance to speak with someone who understands.

Communication is Vital

It’s not only doctor-to-patient communication, but also communication between departments and researchers. It can be difficult to get a diagnosis, and move between the different departments of a hospital for treatments, and explaining yourselve over and over.

Do speak with the patients, and have open conversations with them, but also ensure that you have meetings with other team members, or leave notes about what has been discussed for your colleagues. Nothing can be more distressing to a patient already trying to navigate bad news than to have to explain their situation repeatedly.

Do Offer External Support

It might seem basic, but ensuring that patients have access to adequate mental health support through counselling or peer support is vital. It sometimes gets missed in the chaos of a diagnosis. Patients need support for difficult diagnosis, whether that be connecting them with a social worker to help work details out, a patient advocate or a counselor to help them navigate all the millions of feelings that happen.

Support during a rare disease diagnosis is essential. Patients will find it in online communities and through peer support, but professional support is even more important.

What We Want You to Know

Getting a diagnosis can be difficult, and patients turn to their care teams as the experts who can guide them through.

We need time to process, clear communication and checks of our understanding. We need guidance to get through the first days of shock and the support to understand the diagnosis, treatments and outcomes.  Clear communication, and access information mean that we can make informed decisions as a team, and ultimately, work together toward improving our health.

Stephanie Ernst

Stephanie Ernst

Who am I? I'm Stephanie Ernst, TAPS nerd and founder of the TAPS Support Foundation My passion for raising awareness for Twin Anemia Polycythemia Sequence comes from my own TAPS journey. My daughters were born at 31 weeks at the LUMC in Leiden, and my mission is to support research into TAPS, as well as connecting families diagnosed. Everyone should have access to the latest information and research about TAPS so they can advocate for the best level of care. And most importantly, no-one should ever be alone in their TAPS journey. Find our Facebook group here.

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