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Turning the tide for rare disease

Guest blog by Stephanie Ernst of The TAPS Support Foundation

Turning the tide for rare disease. Getting a diagnosis, or in some cases, not getting a diagnosis, can often feel like you’re stuck in the middle of an ocean. There is a feeling of being overwhelmed and drowning in waves of information or being in a tiny boat in the middle of a storm, with no paddle.

The waves keep crashing on top of you, and you want to stop to take a breath or reach out for a safety line—but this feels impossible.

Turning the tide for rare disease

It can be difficult when someone gets a diagnosis for any rare disease. There is a sense of isolation and overwhelming grief for what could have been. Desperation to find answers and solutions that may not exist, and sometimes a frantic search for stories of survival in the vast stormy ocean.

A diagnosis can be a life raft, giving access to much-needed medications or treatments, or even a community that can support and help you through this time. But it can also be a tidal wave of emotions, swamping you as you struggle to grab a breath between waves of grief and despair.

This turbulence can go on for years; as you find a new medication or therapy, you can feel like you’ve retaken charge of the raft and have two paddles firmly in your grip. Then a storm will come and rock the boat again, causing a leak in your security as you face the hurdles of a further diagnosis or a change to your standard of care.

The abyss

Issues with insurance, care providers who won’t listen, medication reactions and the stress of balancing everyday life with the demands of a rare disease can create a tsunami effect. Your whole sense of being is flooded and tossed around in the currents. Just like losing a paddle, friends can be lost, families can be torn apart, and sometimes, the current takes you under into a darker, more desperate world. You fight your way to the surface, only to be taken under again, and again, and it can be bleak.

A rare disease can send your ship sinking to the ocean floor, lost without a trace in the abyss.

Turning the tide for rare disease

The ebb and flow of the tide, the raging storms, the turmoil and the vast depths of the rare disease ocean are just part of everyday life for some people. Many of these people are lost to that ocean, as the anxiety, stress and search for answers become too much, which is why rare disease communities are so important.

The light

But just as there are storms, tidal waves and turbulence, there are days when the clouds clear and the ocean becomes calm. The tide turns, and the water becomes clear, barely a ripple on the surface.

These are the days when an answer is found, or a medication works, or even a coffee with a newly found friend who can relate to the struggle. It’s a care provider who listens or a revolutionary breakthrough in research—a new clinical trial or therapy is approved and made accessible. It’s a “me too!” moment in an online group, or a new milestone your child meets when you were told they probably never could.

These small breakthroughs mean that we can pick up the paddle and start our journey again on the way to finding more answers about our rare disease. These moments of calm give us the energy to continue our battles and recharge our batteries until the storm clouds move in again.

We can see clearly and celebrate a little. We can take a breath, inhale the fresh air, regain our balance on the raft and even take a nap. The tide has finally turned.

Turning the tide for rare disease

We would love to know how you are turning the tide for rare disease. Email us at to be featured in this campaign

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