2025 Family Conference

Leading the Way Toward a Brighter Future

NBIA community gathers for a group photo at the International Family Conference picnic in Greenville, South Carolina.

The 13th International NBIA Disorders Association Family Conference was held May 29 to June 1 in Greenville, South Carolina, and welcomed 300 attendees. This is the largest turnout in the organization’s history. Among them were 28 clinicians, researchers and industry representatives, which showcased the collaborative efforts between the NBIA medical and family community.

The conference is held every two years and brings together individuals and families affected by NBIA disorders for four days of learning, support and connection.

Creating such a space required careful planning and dedication from our Conference Planning Committee, led by Jennifer Sanchez. This team of community volunteers supported every step, from design and social media to session planning and logistics. We extend our sincere gratitude to these volunteers for their commitment and labor of love. Generous sponsorships (listed on page 4) also played a vital role in turning this vision into reality.

Clinical Panelists Allison Gregory, Dr. Jenny Wilson, Dr. Nivedita Thakur, Dr. Laura Adang and Dr. John Schreiber provide expert clinical insight.

The weekend began with Thursday’s pre-conference activities which featured dedicated clinical sessions for PKAN, BPAN, and PLAN. In these sessions, families met with medical experts specializing in each disorder to discuss current research, clinical care strategies and what lies ahead.

All other disorders in attendance had their clinical session on Friday morning. These disease-specific gatherings provided not only vital information but also reassurance and hope. Throughout the day, attendees also had the opportunity to contribute to NBIA research by providing blood samples collected onsite by a clinical phlebotomist.

 

 

 

 

 

President Amber Denton welcomes attendees to the 13th International NBIA Disorders Association Family Conference in Greenville, South Carolina.

 

That evening, the Conference Kick-Off Dinner brought all attendees together in the Grand Ballroom. After a warm welcome from NBIA Disorders Association President Amber Denton, guests enjoyed dinner and a variety of brief presentations. The evening ended with a get-to-know-you activity that set a tone of camaraderie for the weekend ahead.

Friday opened with a moving keynote address by Dr. James Davis, son of our first Legacy Guardian, Peggy Davis. In his talk, “Growing Up with Christy,” Davis shared his family’s journey, capturing a full spectrum of emotion. Reflecting on his sister Christy and the profound influence of his mother, he revealed how their lives inspired his path into disability justice and shaped his commitment to advocacy and equity. You can read more about his inspirational speech on pg. 7 of our newsletter.

Throughout the day, attendees joined sessions tailored to all NBIA disorders. The day began with a presentation on the power of palliative care and its role in improving quality of life through coordinated support. A policy and advocacy panel featuring NBIA researchers and Disability Rights South Carolina explored how families can respond to evolving legislation and research policy. That was followed by “Tools for Living,” where families shared strategies for securing durable medical equipment through insurance and alternative options.

 

 

  

The “Tools for Living” panel, composed of NBIA families and individuals, shared conventional and creative ways to obtain social and recreational durable equipment.

In the afternoon, families gathered in disease-specific share groups, creating a warm and supportive environment to openly exchange personal stories, share practical advice and offer mutual encouragement with others who understand their unique journeys.

Attendees also chose from breakout sessions covering topics such as dystonia management, financial planning, genetic counseling, seizure care and caregiver support.

While parents and caregivers attended sessions, their loved ones with NBIA and their siblings were welcomed into our amazing care room, Camp Trailblazer. This thoughtfully organized safe space was provided by community volunteers, board members, interns from Vanderbilt University, and a passionate group of occupational therapy students from Presbyterian University. The group provided engaging and inclusive activities throughout the weekend which included sensory play, art projects, even a magical visit from Princess Jasmine and Moana.

 

 

NBIA loved ones and siblings having fun in Camp Trailblazer.

 Meanwhile, clinicians, researchers and industry professionals participated in Teach the Physicians, a two-hour, hands-on workshop where they interacted directly with NBIA families to better understand each disorder’s unique clinical features. A Research Round-Up followed, providing an informal setting for professionals to share projects, exchange ideas and explore collaboration.

Saturday morning focused on disease-specific research presented by active NBIA researchers whose work is made possible thanks to the fundraising efforts of families in the community. These sessions offered a unique chance to hear firsthand about scientific advances, emerging therapies and ongoing studies that directly impact the understanding and treatment of NBIA disorders.

In the afternoon, families gathered at Conestee Park for the beloved family picnic, a tradition that continues to be a highlight of the conference. We shared lunch courtesy of Henry’s Smokehouse, took group photos, played games and enjoyed the playground and each other’s company. In the midst of the laughter and connection, we paused for a heartfelt memorial tribute to our NBIA angels, honoring their legacy with symbolic butterflies. In a quiet moment of reflection, families gathered to honor their lives and the love they brought into the world.

 

 

Saturday ended on a sweet note with our dessert social and silent auction back at the hotel under the beautiful Terrace Pavilion. Families placed generous bids on donated items from an autographed guitar to handmade quilts, all to support NBIA programs. Then we danced the night away, compliments of DJ and BPAN father, Coot Wyman.

Last but certainly not least, we closed the conference with two final sessions. The first introduced inclusive recreational opportunities for individuals with disabilities, giving many a world of new ideas. The second featured a panel of NBIA siblings from different age groups who bared their hearts and souls while providing insight into growing up with a rare disease in the family. Their words held so much truth and enlightenment, and we are truly thankful for their vulnerability in sharing such deep thoughts with the community.

If you were unable to attend, many of the presentations were recorded and are now available to watch online on our YouTube channel. You can also watch the official conference recap video to experience some of the special moments from the weekend.

 

 

The success of this conference reflects the incredible dedication and generosity of our entire community — sponsors, donors, volunteers, speakers and families alike. Because of their support, we were able to offer an enriching program and memorable experiences for all. Together, we are truly leading the way toward a brighter future for NBIA.

 

 

 

 

 

 

 

 

 Many of the sessions at the 2025 NBIA Family Conference were video recorded. 

Watch Recorded Conference Sessions Here

2025 Family Conference Closing Ceremony Video

 

 

 

Thank you to our Sponsors! 

Thanks to our generous sponsors, we were able to cover 100% of conference expenses.

 

 

Redefining Normal: A Moving Keynote Tribute by Dr. James R. Davis

 

Dr. James R. Davis presents a moving keynote address to attendees at the 13th International Family Conference.

In a keynote address that was both heartfelt and powerful, Dr. James R. Davis reflected on the impact of two remarkable women in his life: his sister Christy Davis and his mother Peggy Davis. With humor, emotion and deep insight, Davis painted a portrait of how love, resilience and disability shaped his identity and values.

Davis offered a rare perspective, that of a sibling growing up alongside a sister with a rare disorder. His sister Christy lived with Beta-propeller Protein-Associated Neurodegeneration (BPAN) and their mother Peggy Davis was a longtime advocate in the NBIA community. ​​His remarks explored the emotional challenges, personal growth and lasting bonds formed through their shared journey.

He began by recounting his childhood, including a memory of the powder-blue room he shared with Christy and the time she refused to let her Barbie doll become part of a Hot Wheels stunt. The story, filled with humor, highlighted early lessons in respect and protection that stayed with him throughout life.

Davis spoke about his mother Peggy’s determination and strength. Born in 1936 and raised in a conservative household, she was the first in her family to attend college, join the military and forge her own path.

When Christy was born and later diagnosed with developmental disabilities, Peggy’s medical background and advocacy made her a tireless caregiver. Even after Christy moved to a residential facility, she remained closely involved to ensure her daughter received quality care.

“I felt as though I lost a piece of my very soul that day. But Christy’s spirit lives on through the undeniable impact she had on my life and many lives. She shaped who I am and is proof that a single person can make a difference.” - Dr. James R. Davis

Peggy and her family were among the first to participate in early NBIA research, contributing genetic samples that helped identify the BPAN gene mutation. Davis recalled traveling to California to collect a blood sample from his estranged father, an effort driven by love and a desire to help his sister.

 He reflected on what it means to be the sibling of someone with a disability, which is an experience often overlooked in research and advocacy. From the quiet struggle for attention to the weight of future caregiving, Davis gave voice to a strength many siblings know but rarely name. He recounted moments of confronting strangers who used outdated or offensive language and how those encounters challenged his understanding of what “normal” truly means.

Christy, he said, was never defined by her diagnosis. She was simply his sister — funny, strong, stubborn, loving and, at times, formidable. Their bond, like many sibling relationships, was filled with laughter, conflict, connection and complexity.

Her life also influenced his academic path. Davis’s doctoral research at Vanderbilt University focused on leadership within the disability community. In collaboration with advocacy groups, he helped develop a framework to elevate disabled individuals into visible leadership roles.

He also spoke about legacy giving, emphasizing the impact of his mother’s $1 million gift, divided between the NBIA Disorders Association and Dr. Susan Hayflick’s lab at Oregon Health & Science University. Davis said, “It was the natural continuation of her lifelong fight for Christy and others like her.” This selfless donation earned Peggy Davis the title of our very first Legacy Guardian.

Christy passed away on September 11, 2011. Davis admitted that a part of his soul left with her. But her legacy lives on — in research, in advocacy, and in him. He closed his remarks with a call to the audience: to make an impact, drive change and reimagine “normal” as something diverse, empowered and unstoppable.

 

Ongoing Advances in PKAN Research Presented at Family Conference

by Patricia Wood

Dr. Jessica Regan, Scientific Director at Virtus Therapeutics, presents on promising PKAN compound development and advances in biomarker studies.

 

The PKAN research session included updates from Dr. Jessica Regan, scientific director of Virtus Therapeutics, the biotech company Dr. Choukri Ben Mamoun of Yale University founded to advance PKAN research, as well as from Dr. Richard Lee from St. Jude Children’s Research Hospital. Dr. Susan Hayflick of Oregon Health & Science University was scheduled to speak but was unable to attend due to a family medical emergency shortly before the conference started.

Allison Gregory, a member of Hayflick’s team, briefly shared that their CoA-Z compound was submitted to the U.S. Food and Drug Administration (FDA) in February as a Food Additive Petition. They got confirmation that the application had been received. The FDA’s review timeline remains unclear.

 Regan presented their work on identifying small molecules that restore normal function in cells deficient in the PANK2 gene, which is impaired in individuals with PKAN. The research team has successfully identified several compounds for further evaluation, comparing them to control compounds. Early studies show the compounds increase CoA concentration in human cell lines and mouse brain tissue. In vivo efficacy studies are ongoing. While preliminary data is encouraging, additional studies are needed to validate the findings.

 A promising biomarker study was also discussed. It may play an important role in helping not only PKAN research but also other disorders related to the CoA pathway.

For more information on a related study by this research group, see the article on pg. 11, which covers a recently completed grant funded to Ben Mamoun by the NBIA Disorders Association, along with sister NBIA organizations AISNAF in Italy and Hoffnungsbaum e. V. in Germany.

Dr. Richard Lee carries research forward at St. Jude Children’s Research Hospital from lessons learned on previous BBP-671 compound.

 

Lee and his team at St. Jude Children’s Research Hospital shared their efforts to identify a new PANK activator suitable for advancement into PKAN clinical trials. Their previous compound, BBP-671, advanced into clinical trials for another disease in collaboration with CoA Therapeutics (a Bridge Bio company), but the trial was discontinued due to the drug's poor and variable bioavailability in humans. While the compound elevated CoA levels, it was metabolized more rapidly in humans than in mice, posing a challenge for drug development in planning a dosing strategy within a safe exposure window.

They are hard at work and have high hopes that they can use the vast amount of information gained from BBP-671 to find a new compound that is both safe and effective. They have added new team members with specialized skills, incorporated artificial intelligence tools to support study design and are following the commercialization roadmap previously developed by BridgeBio.

Lee said he is confident they will find a compound that can be tested in humanized mice and other animal models before advancing to a clinical trial.The team received a high score on a $5 million multi-year grant application to the National Institutes of Health and is hopeful that funding will be available soon to expedite these studies.