Community Recap: Living Rare, Living Stronger in Georgia

For years, the National Organization for Rare Disorders (NORD^®) Living Rare, Living Stronger^® event has been an annual forum for rare disease patients, families, caregivers, and experts to forge lasting connections. This year, we’re hosting two Living Rare, Living Stronger events in different regions so that you have more opportunities to connect in person with NORD and the experts at our NORD Rare Disease Centers of Excellence, as well as other rare individuals in your region.  

We kicked off the first of our 2025 Living Rare, Living Stronger event series on June 27 at the Georgia Aquarium in Atlanta, where more than 140 rare patients, family members, clinicians, and doctors gathered for a full day of learning, connecting, and sightseeing.

A “Village” that Accepts You for Who You Are

Living Rare, Living Stronger isn’t only about navigating health care. It’s also about how to live life as your most authentic self in community with others who understand you and lift you up. In the session, “Finding Your Rare Village,” we talked about how to communicate your family’s needs and experiences with rare disease to your friends and community. 

• Rare mom and Duchenne muscular dystrophy advocate Alpa Khushalani spoke about accepting your condition without viewing yourself as less than anything and interacting with others who accept you for who you are. She shared how her family made tough decisions about relationships and compared it to tending to a lawn — sometimes nurturing the grass means you have to identify and pull out some weeds.

• Allison Leeds, Volunteer Rare Action Network Ambassador for Connecticut, discussed the importance of reaching out for help, whether to your child’s school and teachers, neighbors, or friends. Nobody should go through this journey alone; asking for help and finding your village is part of the process.

• Lastly, nurse Beth Nguyen, patient advocate for syringomyelia and Chiari malformation, and Chair of the Georgia Rare Disease Advisory Council, gave a moving overview of why it’s important to advocate for yourself and for others, and to join NORD in our efforts to speak up for patients and caregivers — whether through your state’s Rare Disease Advisory Council or through NORD’s Rare Action Network, which anyone is welcome to join. 

Insights from Renowned Rare Disease Doctors and Geneticists

The expert team from the NORD Rare Disease Center of Excellence at the Emory Division of Medical Genetics/Children’s Healthcare of Atlanta (CHOA) were instrumental in sharing their knowledge during several keynotes and panels over the course of the day.  

• Dr. Jill C. Flanagan, Pediatric Orthopedic and Limb Reconstruction Surgeon at CHOA’s Limb Difference Program, took the stage with rare parent, Tamekia Parence, to share the story of their special relationship and how it improved the health of Tamekia’s son, Carl. Dr. Flanagan remarked on the lengths to which rare disease patients must go to seek specialized care and how, after seeing several patients needing to travel to Atlanta to be treated, she decided instead to go to them. This dedication illustrates the type of physicians in our rare disease community and how they rise to the challenge to creatively solve problems and care for those of us with complex conditions. 

• Dr. Rossana Sanchez Russo, a geneticist at Emory, shared how she works with patients throughout their rare journeys, and was visibly moved by her patients in the audience who spoke about the impact she and her clinic have had in their lives.  

• Dr. Hong Li, also from Emory and a member of Georgia’s Rare Disease Advisory Council, provided guidance on accessing expert specialists at medical centers of excellence, including NORD’s own Rare Disease Centers of Excellence, which specialize in diagnosing and treating thousands of rare disease patients and are at the cutting edge of some of the biggest medical and scientific breakthroughs. 

Charting a Path Forward Together

Breakthroughs in rare disease awareness and treatment don’t happen without patients coming together, raising our voices, and explaining our needs to the decision-makers driving health care policy and research. 

Attendees in Atlanta heard first-hand about NORD’s policy priorities and the grassroots advocacy campaigns NORD is leading, what this work means for patients, and how they can get actively involved. Leah Barber, NORD’s Director of Grassroots Advocacy, followed up with tangible examples of how everyone can make an impact by contacting their lawmakers directly over the phone or through virtual or in-person meetings to share their rare stories. Joining NORD’s Rare Action Network allows you to receive action alerts inviting you to contact state and federal lawmakers when it matters most.  

During our networking lunch, attendees joined topic-focused discussions designed to connect them with others navigating similar journeys. Table topics included: 

• Creative Storytelling: How To Share Your Story 
• IEPs, 504 plans, SSI, and Disability Navigation 
• “Welcome To Holland:” Coping, Grieving, and Resiliency 
• Transitioning to Adulthood 
• Coordinating Your Care Team 
• Navigating Insurance Barriers 

The Future of Medicine

One intriguing panel was about “Utilizing Technology to Improve Your Rare Disease Care,” which covered emerging technological trends in health care. We explored ways technology, particularly AI, can be used to improve care, alleviate burdens, and aid in navigating the rare journey.  

• Dr. Michael Kraft, Medical Director of Virtual Care and Assistant Professor of Family and Preventative Medicine at Emory, shared great examples of clinical applications in rare disease utilizing AI. He was joined by the Head of Rare Diseases-US at UCB Pharma, Kimberly Moran, who explained the benefits of AI for drug development, such as identifying potential targets and analyzing large datasets to understand the mechanisms at work:

“When you go on Amazon, looking for a white dress, you see everything pop up, right? But below it, it says, ‘Someone like you also bought.’ That is using a look-alike analysis,” explained Moran. “We’re actually using that on health care data, taking a cohort of patients who are diagnosed with rare diseases, using that as a template, and looking back at their history of all the events that happened.” 

• Nakisha Isom – patient, caregiver and president of the support group Living with Holt Oram Syndrome – highlighted some of the ethical considerations associated with using AI technologies in rare disease care, including data privacy and algorithmic bias, and the important need for human oversight. 

Understanding the Importance of Genetics

The final session of the day was about “Genetic Testing and Why It Matters After Diagnosis.” Panelists explained how genetic testing does not stop at diagnosis and how it remains essential for treatment, family planning, and long-term care decisions.  

• Rare parent Gay Grossman, Patient Advocacy Liaison, for the genetic testing company GeneDx, broke down the avenues for testing that are currently available.  

• Genetic counselor Dawn Laney, Associate Professor and Director of the Emory Genetic Clinical Trial Center, and patient advocate Jorden Albright reinforced the importance of genetic testing with examples from their own lives and work. 

“I want you to remember that genetics can be very sneaky,” said Dawn. “There are things that look the same on the surface that can be caused by very different things underlying them. So, when you get genetic testing, it helps clarify in what way the change in the gene is impacting what we’re seeing on the outside.” 

Learn more about the role of genetic testing after diagnosis by watching NORD’s videos on the subject in English and Spanish. 

See You Next Time — Closing Remarks

NORD’s own Tiffany Sammons provided closing remarks and a heartfelt message about the strength of the rare community and the power of shared stories. A rare mom, Tiffany gave personal examples of raising her son, who is living with the rare disease Coffin-Siris syndrome. It was a testament to the themes shared throughout the day: that both change and acceptance are possible, and that they start with each of us. 

“My son has 26 specialists, four therapists, and an amazing pediatrician, and they have all become a big part of our village, said Tiffany. “People always say it takes a village to raise a child, but I never pictured ours to look quite like this. My son is a miracle, and he is rare, and he will continue to defy the odds and be the depiction of resilience. And he is my why. Why I connect with all of you in this room.” 

We were thrilled by the positive feedback we have heard, and hope that everyone who attended stays in touch with each other and with NORD as you continue along your rare paths.  

Our next Living Rare, Living Stronger event will take place in Milwaukee, Wisconsin, on Saturday, Nov. 8. Registration opens soon! Follow NORD on social media for updates.