For patients with rare diseases, awareness can be life-changing

(BPT) - Facing a rare disease diagnosis wasn’t easy for Mary Ann Farley of Hoboken, N.J. Family and friends had never heard of the disease, her doctor had never treated a patient with it, and with little information and resources available, Mary Ann felt alone.

“With a rare blood cancer like essential thrombocythemia, information and resources can be hard to find. So there was no easy way for me to learn more, or to connect with others who were going through a similar experience,” she says.

In 1999, at the age of 40, Farley was diagnosed with essential thrombocythemia (ET), which belongs to a group of rare and closely-related blood cancers known as myeloproliferative neoplasms (MPNs). ET causes the body to produce too many platelets and puts patients at risk for blood clots and abnormal bleeding.

Farley had been experiencing troubling symptoms since her 20s, and was relieved to finally receive a diagnosis after suffering from a rare jaw bone infection. But it wasn’t a very clear diagnosis.

“All of these things were going wrong with my health at once, but no one could pin down what was causing the problems,” she says. “It was a scary, uncertain time. And even once I knew that ET was the cause of my health issues, there was little information about available treatments or my future health outlook.”

Not only was her diagnosis vague, but her ability to connect with others like her, or to establish a network of support around her, was also limited.

“It became much more real for everyone when I started developing complications,” Farley says. “I didn’t ‘look’ sick, so those around me didn’t understand the severity of what I was going through until I began spending long periods of time in the hospital.”

Medical research to discover and develop treatments for rare diseases also tends to happen more slowly because of the low number of reported cases. In the decades since Farley was first diagnosed, there haven’t been any new treatments approved for her disease.

In addition, when medical questions arise, it’s challenging for these patients because many doctors aren’t familiar with rare diseases. Farley is the only patient with ET that her doctor and hematologist have treated in the last 30 years.

Community awareness initiatives can help bring attention to rare diseases and offer opportunities for patients to connect with others like them. A new program, Voices of MPN, got its start among advocacy groups in the MPN community, with the intent to shine a light on these rare diseases, but to also encourage support and connection for those affected.

The Voices of MPN program website, www.voicesofmpn.com, provides information about the diseases, educational programs, community activities and shared stories from patients, caregivers, health care professionals and advocates for MPNs. In addition, the program includes Facebook, YouTube and Pinterest pages which invite people to learn more about MPNs and become advocates themselves.

Farley appreciates the ability to increase her connections with people who understand first-hand what it is like to live with a rare blood cancer.

“In terms of support, I have now found it in my own circle of family and friends, but you can always use more,” she says.

Honoring those who take action and create awareness or change is another important part of Voices of MPN. MPN Heroes, a recognition program sponsored by Incyte and in collaboration with CURE Media Group, publishers of CURE magazine, acknowledges and celebrates the otherwise unsung heroes of MPN, from people living with the diseases to organizations that have gone above and beyond in providing care, leadership and commitment. More information is available at www.MPNHeroes.com.

“This is real news for people in the MPN community,” Farley says. “You get used to the fact that you’re somewhat alone in this disease that will affect you for the rest of your life. You learn to accept it and just do your best to have a happy and fulfilling life. But programs like these that acknowledge what we go through, and connect us with others who are going through a similar experience, help make it a little bit easier.”