Remarkable breakthroughs for ultra-rare disease thanks to DeRidder group

Remarkable breakthroughs for ultra-rare disease thanks to DeRidder group

It has been two years since KPLC shared the story of a DeRidder woman in her fight to increase awareness and find a cure for an extremely rare disorder that took the life of her husband. Incredible breakthroughs have happened since then, bringing hope to the 300 people around the world living with Erdheim-Chester disease.

Every day in the DeRidder office for Kathy Brewer and Jessica Corkran with the Erdheim-Chester Disease Global Alliance is full of brainstorming sessions, note taking, doctor calls, and international e-mails with people around the world affected by this rare disease.  "At this point, there have been so many breakthroughs, the diagnosis is changing radically," said Brewer.

Brewer is the driving force behind the ECD Global Alliance.  She created it in 2009 after the death of her husband, Gary.

For several years, Gary was plagued by mysterious medical problems that stumped doctors.  "We would walk into doctor's offices and the doctors would usually ask us, 'What do you want me to do?' and the answer I wanted to scream was, 'I want you to make my husband better,' but they didn't know how because they didn't know what was wrong," said Brewer.

An autopsy confirmed Erdheim-Chester disease as Gary's cause of death.  The disease is characterized by excessive production and accumulation of infection-fighting cells that infiltrate the loose connective tissue of the body, leading to organ failure. 

Brewer says there were no resources about the disease, so she made it her mission to change that. Her journey started with personally tracking down the few ECD researchers around the world.  "I actually took my vacations to Europe for a couple of years and went and actually knocked on their doors, introduced myself, explained what we were doing and they were very, very supportive and helpful," she said.

Brewer and the ECD Global Alliance have raised between $500,000-750,000 for research and clinical trials.  Corkran says that is bringing life-changing drugs down the pipeline for sick patients.  "With a rare disease, there are no on label FDA-approved treatments for rare diseases.  This allows them to get those treatments affordably, versus having to fight the insurance companies to get approvals," said Corkran.

"We have patients who were actually very, very ill, had been suggested by their doctors that they should go home and get their affairs in order, that there was little hope, who are now living vibrant lives," said Brewer.

Brewer says the research has also discovered that more than half of ECD patients have a specific mutation that is common in melanoma patients.  That could mean this auto-immune disease is reclassified as a rare form of cancer.  This discovery has led to better tools and treatments for the rare disorder, giving these patients longer, healthier lives.  "It is amazing to me what can be done when people really work together to accomplish something and it gives me hope for mankind," said Brewer.

Only 500 cases of Erdheim-Chester disease have been described in literature.  The ECD Global Alliance has created a video to raise awareness and share hope about the disease with help from MD Anderson and Memorial Sloan Kettering Cancer Centers, along with the National Institutes of Health.  Click here to watch the video.

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