Patient Creates Foundation to Raise Awareness About HLH, Other Rare Diseases

Patient Creates Foundation to Raise Awareness About HLH, Other Rare Diseases

One patient’s personal battle with the rare disease hemophagocytic lymphohistiocytosis (HLH) has evolved into a new organization, the Eric’s Journey Foundation, to raise awareness about individuals with HLH and other rare conditions.

At 27, nearly eight years ago, Eric Majusiak became ill with intense joint pain, a sore throat, and difficulty getting up. A week after being admitted to a local hospital in New Jersey, Majusiak was transported to Temple Health in Philadelphia where he was put on extracorporeal membrane oxygenation (ECMO, a life-support system) due to lung failure.

He was diagnosed with, not one, but two rare diseases, HLH and adult-onset Still’s disease, a rare type of inflammatory arthritis.

HLH is characterized by exacerbated inflammation throughout the body, due to the overactivation of immune cells. It can be inherited (familial) or acquired (non-inherited), due to other causes, such as infections, for example. While the disease usually develops during the first months or years of a patient’s life, symptoms also can emerge later in childhood or even adulthood, as in Majusiak’s case.

His recovery was long, as he spent several months relearning how to breathe, eat, walk, and talk again. This fight inspired him, upon returning home after a 99-day hospital stay in 2012, to start EricsJourney.org, which has now grown into the foundation.

The foundation’s mission is to raise awareness for HLH patients’ physical and emotional struggles, as well as other rare disorders. Majusiak is hopeful he can reach and educate as many people as possible around the world, and also to provide support for families.

One of the foundation’s core objectives is to educate doctors and medical students about HLH, in order to increase the speed of diagnosis that and other diseases. In line with this goal, the foundation intends to provide financial travel support for doctors to attend the Histiocyte Society Annual Meeting to learn more about HLH and other conditions. This year’s meeting will take place in Athens, Greece, Oct. 4–6.

The foundation, which incorporated as a nonprofit in New Jersey Nov. 13, also plans to support other rare disease organizations and their initiatives.

Majusiak has spoken at a number of events to spread the word about HLH, including the inauguration ceremony for the Zakithi Nkosi Clinical Hematology Centre of Excellence in South Africa, which treats HLH and other rare blood diseases, and at Rutgers Robert Wood Johnson Medical School.

“If I could just help one person … We all have something to learn from one another. Together we can make a difference for those affected by rare and chronic conditions,” Majusiak said in a press release.

Eric’s Journey Foundation has a number of events planned for 2020, including a 5K race “5K to Fight Histio 2020” in New York on July 19, and the Eric’s Clay Shoot for HLH Friends and Family on May 16.

Follow the foundation on Facebook and Twitter for updates, news, and events.

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