Rare diseases create rare opportunities

Too often our good health is something we don’t acknowledge or even work to maintain. We acclimate to our norms and carry on. But what if we were faced with a diagnosis of a rare disease. What thoughts would flood our mind as we learn that a life-threatening condition is the hidden catalyst behind our deteriorating wellness. What must it be like to know that the disease from which we suffer is so rare, that doctors may not understand it, let alone recognize it. That friends and family may not comprehend the potential consequences. What to grapple with first as the world around us continues to spin, life relentlessly marches on and our disease state worsens.

In meeting people affected by rare diseases, it quickly becomes clear that they are as remarkable as their medical conditions. They are so often courageous and tirelessly committed to not only their own health, but helping others with the same disease. They learn to advocate for themselves in a complex healthcare system. They fight back. And so often, they do not let the disease they are burdened with define who they are as individuals.

Working in the rare disease space for the past 15 years, we’ve grown to know families affected by these conditions personally. And it is a deeply personal experience. Learning from their perspectives is not only inspirational, but it is also empowering. This interaction creates potentially powerful opportunities.

Assume nothing.

In the big picture, so little is known about these rare diseases. The one thing we can be sure of is that there is still so much to be learned. Listen to those affected by the disease directly. Sometimes it’s the smallest of details that provide clues to diagnostic and treatment insights.

Enable communities.

People living with rare diseases are not alone. The numbers may be small, but this is what makes it even more critical to build connections and foster communication. Supporting advocacy groups and professional associations with the right resources is essential.

Don’t forget the caregivers.

Families and friends often rally to the sides of their loved ones. But providing care and support for people living with rare diseases is a full time job in its own right and can be depleting. Caregivers deserve their own dedicated support. The stronger they are made to feel, the stronger the support they can provide. Unaffected family members might feel less important or out of the spotlight, but they play an important role and their lives warrant attention and care too.

Educate, educate, educate.

Whether it be with referring physicians, treating practitioners, patients, care providers, payers or regulatory bodies, it is vital to keep the drumbeat of disease education loud and clear. Often rare diseases carry with them stereotypes and misconceptions. These must be broken down and education is the most powerful vehicle to do so.

When branding a treatment for a rare disease or even the disease state itself, the brand will only succeed if the people it ultimately affects power it. People living with rare diseases are the very roots of these brands. These brands represent hope. They offer a branch to cling onto when there may be no others. We cannot walk in the footsteps of those affected, but it is our responsibility to walk along side of them.

by Jonathan D. Katz