Dear Rare Disease Community,

It’s the second World Rare Disease Day that I have had the pleasure of celebrating as a part of the team here at Global Genes. When I signed on to work with this organization in early January 2013, I came into this community solely as a patient with a rare disease who also just so happened to be a writer and editor. I had no idea what this job would bring or how drastically it would impact my life.

Maybe it was a little myopic on my part, but I felt that fighting a rare disease was kind of a lonely road. You fought, but you fought for yourself and your treatment and your health. What was the point of having a “rare disease community?”  Whatever way we slice it, weren’t we really just out here on our own?

Like most patients I had grown up in a whirlwind of doctors and hospitals, misdiagnosis’s, concerns that I might be imagining my disease or failing to find the link that could group it with any one of the mainstream diseases that heavily impact our population. I felt embarrassed, hyper-

An interview with Dr. Stephen Groft with the NIH gave insight into how the Office of Rare Disease was creating new programs.

An interview with Dr. Stephen Groft with the NIH gave insight into how the Office of Rare Disease was creating new programs.

vigilant and frustrated by the complications of my disease. It wasn’t something I could discuss with the majority of my friends or family. My disease had made my world a small one, and I felt powerless to do anything but wait for treatments to come out of the pipeline, shuffle between physicians, and not look forward to the future–because I felt I had very little say in it to begin with.

A year later my world has grown from Boca Raton, FL to South Africa,  to the Summit of Borneo, to the conferences in Washington D.C., to the home of the Hempel Family in Reno and to the center of Hope itself, The Global Genes Headquarters in Aliso Viejo, California.

The first thing I learned about the Rare Disease Community was that while emotional support–which so many organizations offered–was critical, it was the force and determination of patient advocates that was moving treatments and policy to the next level. They rallied in Washington, lobbied their congressmen, fought for policy reform, demanded to be heard when insurance backed out of paying for life-saving medications and surged forward through the complex medical jargon to become fluent in the languages of chemistry and science.

When I was first diagnosed with a rare disease and was given an option of two different (but equally gruesome) treatments, I was depressed.

This is it. This is all I’ll ever have the choice of. I’m rare. No one is creating more options for patients like me. This is all I’ve got.

TributeChampionsHope_LogoAnd it wasn’t until I started working for Global Genes that I saw the waves of change being made by patients–just like me– and organizations– just like the one I was writing for. Pharmaceutical companies were listening. Clinical trials were really happening. Somewhere, in a biopharmaceutical company in a simple white lab coat there was a scientist out there working for my disease. The thought alone helped me to get out of bed every morning and endure the treatments I currently had. One day there would be better options–for me and for others.

And I thought: maybe I’m lucky. Because just a few short months before I landed at Global Genes I was facing down a stack of applications for disability and was enveloped by the gloom and finality of not working because of my disease. So I reached out. I knew by this point that I wasn’t the only patient out there– but I never could have expected the mountain of responses that clogged my inbox for days.

We created the Chronically Employed series, where we asked patients to share their stories of how they started or stayed in their careers after a diagnosis. From the blind, to the chronically fatigued–I was moved by their journeys and innovation.

I became familiar with the government programs for rare disease, that I’d volunteer handsonly really learned about peripherally. Last year the NIH expanded the Undiagnosed Patient’s Program and now they’re working on an international patient database so that patients can communicate and contribute information on a global level.

Over the year, I watched the rest of the staff in constant motion. Whether they were traveling to conferences or seminars, working on resources and toolkits that would aid the community, or putting together events like their Annual Patient Advocacy Summit, I was proud to be among the team and inspired by everyone’s enthusiasm and commitment. It’s rare–to work in an environment where it seems like everyone has skin in the game and passion for each project.

My biggest role here was obviously as an editor. And every day patients submitted their stories. I read about mothers who were fighting tooth and nail to get their children into the best doctors, who were fighting policy to give their children more medical options. I read stories from caregivers whose normal lives had disappeared in the blink of an eye. I heard from teenagers who were struggling to balance school with chronic illnesses.

And as one story flowed into another–I realized something that connected them all. Their children might be hospitalized, on feeding tubes, unable to walk or run–but there was an unspeakable tone of accomplishment in every story. These parents and patients knew they had the odds against them, but they had made it this far. They were survivors–and they wanted their stories to deliver that message: there is hope here, they said. Life goes on.

balancing_act_globalgenes_WRDD_smallAnd even as I struggled with my own disease and hospitalizations, the staff at the Global Genes Project helped me to keep my pace, encouraged me to find the balance between caring for myself and managing my career. They provided an atmosphere of understanding that empowered me to push through my own problems and make sure that our message reached others.

Being a part of this rare disease community–with all of the patients, parents, advocates and activists, organizations, foundations and policy makers–with the scientists, and program directors, the innovators and the caregivers–I’m so honored to celebrate today among all of the heroes I have met and spoken with over this last year.

Thank you all for giving me hope.

Sincerely,

Ilana Jacqueline
Managing Editor