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Encouraging Patients with Rare Diseases to Speak Up

Photo: Courtesy of Alana Newton

For patients dealing with little-known medical conditions, simply starting a conversation may open new doors.

For Alana Newton, each day is a challenge. Diagnosed two years ago with Ehlers-Danlos syndrome (EDS), she battles chronic fatigue and pain.

“EDS is a disorder of the connective tissue,” explains the 37-year-old mother and registered nurse. “For myself, it’s primarily my joints, skin and internal organs that seem to be affected. My seven-year-old son, who’s also recently been diagnosed with EDS, has a potentially fatal heart condition related to poor collagen in his aorta.”

Newton says the journey has been a roller coaster, with more downs than ups. Even worse, doctors don’t always understand.

“People with EDS often feel as though medical professionals perceive them to be hypochondriacs. This perceived scrutiny causes as much, or perhaps even more, suffering than the physical symptoms.”

Creating a dialogue

David Cox, Executive Director of the Vancouver-based Rare Disease Foundation, says it’s crucial for patients to share their experiences.

“Every story is unique and brings a new perspective to the challenges one faces as a person living with a rare disease, or caring for someone with a rare disease.”

Lacking a unified voice

Cox says public awareness campaigns and scattered fundraising efforts are appreciated but they can create inconsistent messaging which makes it more challenging to speak from a common platform and reach the critical mass required for political action.

“The Rare Disease Foundation speaks for all rare diseases without preference. The vast array of individual causes also makes it more challenging to raise funds under a ‘big tent’ approach to research, where all diseases are treated equally in research and treatment.”

The cone of silence

Often, some part of a family or social circle refuses to talk about the disease.

“In many cases with two parents involved in caring for a child, one of the parents goes into a kind of denial that there’s anything wrong, and doesn’t want the perception that they were the genetic cause of the problem, and, therefore, somehow defective themselves. We need people to talk about rare diseases like they are now learning to talk openly about mental health issues.”

Showing compassion

 For those struggling with a rare disease, Cox offers hope.

“While you may feel alone and isolated when you have an unknown or rare diagnosis, you are, in fact, not alone.”

Newton adds, “Many rare diseases are not visible to others, and those experiencing them may be suffering in silence. Please don’t judge a book by its cover.”

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