NORD is a nonprofit organization that was established in 1983 to support families and individuals impacted by rare diseases through advocacy, education, research, and patient-centered programs and awareness campaigns.

Oprea, who served as Chief of the Translational Informatics Division (2012-2022), has made significant contributions to drug discovery and repurposing, translational informatics, and machine learning. 

Oprea co-led the first study to determine the number of rare diseases in the world. He states, “Everyone was saying there are 7,000 rare diseases... It turns out, nobody had counted them! So, I led the team who first counted them, together with Melissa Haendel and Chris Mungall. There are more than 10,000 rare diseases, and 300 million rare disease patients”

In addition to the organizers, patients and advocates like Stratton, Marie Abrego, Candy Romero, John Wakeland, James Baca, and Vivian Reese shared their stories.

Stratton explains, “It takes communities to come together, understand what's happening with the whole patient population–the whole spectrum–variants of unknown significance, to the most severe case of the disease, all those stories matter. And patients are really the ones to bring those folks together.”

Research on rare diseases is often limited, but there is a growing body of work dedicated to understanding and treating these conditions. However, there is no clear bridge between the scientific community and the patients this research is meant to benefit.

Securing funding is also an ongoing struggle. “It's endless, it's like it goes on and on and on and on and these groups have no funding, they basically fund their work with bake sales, right, fun runs–there's nothing really fun about rare disease, so, you know, it's really complicated stuff,” Stratton details.

Moreover, there's the continuous struggle of communicating the lived experiences of rare disease patients to those who might not notice visible symptoms of illness.

Vivian Reese, a patient with cerebral cavernous malformation (CCM-1) describes these challenges, “The biggest problem, is like, you look at me and think I’m healthy... I get a lot of ‘are you gonna come, or are you gonna have your fake sickness,’ right?

And you're so exhausted you can’t put one foot in front of another, but you have a fake illness because you don’t go around announcing it to everyone. It's really hard even now, I was in the emergency room three weeks ago, and my doctor didn’t know what CCM was. I had a five-hour nosebleed, I thought my brains were coming out.”

A genetic variant associated with the CCM-1 gene is predominantly in Hispanic families and often referred to as “the Common Hispanic Mutation.” 

Reese’s cousin, James Baca, has the same disease. “We have a network of people that we talk to, that have these bleeds... It’s not sad, it’s just the way it is. We’ve become our own experts on these bleeds.”

Reese, like so many other patients in the room, emphasizes the misdiagnosis issues that come with having a rare disease. 

“Throughout the years I was always misdiagnosed, you know, ‘you have migraines’–I had two strokes. It was always because ‘you're on the birth control pills’, ‘you're on this’, ‘you're on that’, I was misdiagnosed forever... now I’m diagnosed, and everybody knows that I’m not backwards and crazy.”

The stories of Vivian and James highlight the critical need for the medical community to better recognize and understand rare diseases.

By sharing their stories, the group took the first step on Rare Disease Day to begin building supportive communities. Stratton shared the importance of bringing scientists to the event because they “make things happen.”

“I started a foundation and spent many years working to bridge the scientific community with the patient community, so the scientists better understood the burden of the disease and what was the most important to patients to improve their lives. I [also] helped the patient community better understand what's happening with us.”

Marie Abrego shares her journey with Neuromyelitis Optica (NMO), a rare neuroimmune condition where the immune system attacks cells in the central nervous system, which can result in paralysis, vision loss, and a weak constitution. 

Despite these challenges, Abrego has risen as an advocate for others suffering with this disease and is the New Mexico Ambassador to the Sumaira Foundation. This nonprofit is committed to raising awareness and providing support to those with Neuromyelitis Optica spectrum disorder (NMOSD) & Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). 

“NMOSD affected me pretty young, I am totally blind in both of my eyes... It is often misdiagnosed for multiple sclerosis and being diagnosed with multiple sclerosis can be devastating if we’re put on MS treatment, so I'm here to really just help build out this NORD rare disease chapter because it's very important that rare diseases have a voice at the table,” said Abrego.

Abrego has made lots of headway in her mission to spread awareness. For the past two years, she has collaborated with the Albuquerque Double Tree Hilton Downtown in lighting the building in pink.

She was interviewed by KOB4 for this, and she will also be featured in the Alexion “Rare Connections in NMOSD” short film that will feature the stories of individuals living with NMOSD.

“When I started to do things, I didn’t really fit and felt like my voice didn't matter, but as time went on, I realized I can do something, and my voice does matter. If I could just help one person, that connection matters,” Abrego said.

“I think it's very important that we continue to build a community of support. A lot of people, when they’re diagnosed with rare diseases, they don't really know where to go. So, I am so glad to be here and... raise awareness, not just for my disease, but for all rare diseases.” 

She continues, “Scientists, researchers, clinicians: please don't give up on us rare disease patients because we need you. You are our voice and our light in our darkest moments, so thank you.”

Rare disease patient John Wakeland emphasized the impact that scientists have. Wakeland has a syndrome similar to Charcot Marie Tooth syndrome, and finding answers has been difficult.

He described, “I got a report back that said I didn't quite have the disease, but I have some ‘variants of unknown significance,’ I think is the title that they used. Tudor found out, and invited us to attend... I appreciate the genetics work that it sounds like you've been involved in for years, because otherwise, I'd probably still be a bit of a mystery.” 

Stratton is a powerhouse who not only deals with her own case of familial partial lipodystrophy but is a leading figure in efforts to increase awareness and support for patients around the globe. Her goal is to empower patients to not just be subjects of research, but active participants and leaders in shaping the future of healthcare for themselves and others.

“We expect patients to provide not only their bodies for research, but their skills, their expertise, and their time. And we believe that that time is just as valuable as any key opinion leader at the table.  

What I get to do [in her role as a Program Manager for a network of rare disease organizations that drive patient focused research], is provide grant dollars and capacity building training so that they can bring their skills to the table and be heard and matter, and they can do it without going bankrupt, without being the only one in the organization doing it all until they have no energy, no time, and no life left to do it.”  

Stratton’s daughter Ava, who is a freshman at UNM as well as a Regent Scholar, joined her at the event.

“It's a real privilege to be able to assist others and manage my disease at the same time. I brought my daughter here... we know that rare disease doesn’t impact only the patient, it impacts the whole family, so I think it's really important for folks to hear about how lipodystrophy has affected all of us,” says Stratton.

Ava was six when her mom was diagnosed with Lipodystrophy.

“Having a mom with rare disease, of course when she got diagnosed there [were] ... implications of the medical kind, and society, and just ...everything. Being the daughter of a rare disease patient has helped me recognize that even if someone is struggling with something unseen, that doesn’t mean that their experience isn't real.”

Candy Romero has been serving the UNM community since 2004 as development coordinator for the University, responsible for tasks from fundraising to volunteer management, to event planning.

Romero recalls when she first realized she had CCM-1. “I’m like, what is happening? I was only 27 years old. I’m thinking, there's nothing wrong with me...” 

Two brain bleeds and surgeries later, Romero's road to recovery is inspiring as she re-learned to walk on her own through sheer willpower, went back to college, and even studied abroad in Spain. 

“So, my life has been pretty normal. I work here at the University full-time; I have a really busy job. I’m in charge of Commencement and Family day, and all other events that go on at school, so yah, I’m very, very blessed. I try to exercise every day, neither of my kids have it, they’ve been tested more than once and they’ve come up negative many times, so in my family, it ends with me,” Romero explained. 

Also in attendance from the Department of Chemistry & Chemical Biology were Chair and Professor Jeremy Edwards, Associate Professor Jun-Yong Choe and Professor Jeffrey Rack.

Edwards said, “My primary reason for being here today is to just listen and see what UNM can do to help.”

Oprea emphasizes the need for awareness, “we are trying to build a sense of community...we need to reach out, and we need to engage. Thats how we make our voices heard... that awareness is just as important to researchers.”

Choe provided some encouraging remarks on the state of research around rare diseases.  “We are trying to establish a cryo-electron microscopy facility, a state-of-the-art instrument in the state of New Mexico, so UNM is working with NMSU, New Mexico Tech, Sandia Labs to enhance structural biology research”

Medical provider, Jessica Valdez from UNM’s Cancer Center was one of the clinicians in attendance for the meeting. “Cancer predispositions are rare diseases because they are genetic... so they can affect whole families... Not a lot of research funding goes towards childhood cancer so I'm here to represent my patients.”

Valdez’s sister suffers from Cushing’s Disease and she addresses the patients in the room, “I've actually observed her on her journey with trying to find answers and support and who can be experts to help her, so I’m here to support you.”

Registered nurses, Ann Marie Parmenter and Vail Woodard, represented the UNM Center for Development and Disability (CDD) and lead the Medically Fragile Case Management Program that has rare disease patients.

Woodard’s daughter has a rare neurological disease caused by a KIF26A gene mutation. It took years to get a proper diagnostic.

The Rare Disease Day meeting sparked Parmenter and Woodard to think about hosting an event at CDD next year for Rare Disease Day, one that is inclusive of some of the families served by the Medically Fragile Case Management Program.

Christos Argyropoulos, Division Chief of the Nephrology Division, was the other clinician in attendance, representing the UNM Clinical and Translational Sciences Center (CTSC).

While discussing the difficulties in obtaining funding for research and appropriate training, Argyropoulos pointed out that in just this past February, two patients at the Dialysis clinic with Type 2 Diabetes, were diagnosed with homocystinuria–a rare disease with previously only one known patient in New Mexico.

The presence of scientists at the event was significant, as 80% of the research being conducted on rare diseases does not cover experiences or concerns being faced by the community affected.

“NORD recognizes that New Mexico in particular has a significantly underrepresented rare disease community.”

As the initially appointed NORD Ambassador for New Mexico, Garver outlined efforts to advance the inauguration of a NM NORD chapter at the state level, with support from legislators like Senator Ben Ray Lujan and Senator Martin Heinrich–both known to be supportive of medical care and research.

If approved, $150,000 will be granted towards the initiation of the NM NORD chapter, which is the ultimate goal for this group of advocates.

As discussions continue and initiatives take shape, the rare disease community remains united in its pursuit of better treatments, increased awareness, and ultimately, a brighter future for all those affected by rare diseases.

Oprea has high hopes for next year’s Rare Disease Day, “hopefully we will have 5x more people and need a much bigger venue.”

“Even though we’re rare, we’re not too rare... It takes all of us.”