NBIA NEWS & INFORMATION

April 2022

Amber Denton of Houston is the new vice president of the NBIA Disorders Association.

The NBIA Disorders Association Board of Trustees has elected Amber Denton of Houston to be its new vice president. She is a prolific fundraiser for the organization, chair of the board’s Development Committee and the mother of a daughter with BPAN.

Denton, an instructional specialist in an elementary school, joined the board in fall 2019. She has been raising awareness about NBIA and hosting community fundraising events to support the organization even before becoming a trustee. She helps plan and leads efforts for the organization’s major fundraising events, including Rare Disease Day, the Million Dollar Bike Ride and GivingTuesday.

When her daughter, Sydney, was diagnosed with BPAN, she wrote a book, Sydney’s Song, that described how her daughter communicates with song instead of words.

Matthew Ritzman, board of trustees chair, says that Denton is “considerate, dedicated, organized, respectful and thoughtful. … At every turn she has devoted increasing efforts to our cause. There is nobody in or out of the organization that is better fit for the position of VP than Amber.”

Mary Ann Roser of Austin, former vice president.

Denton succeeds Mary Ann Roser as vice president. Roser joined the board in 1998 and has helped with the newsletter and other writing and editing for the organization.

She stepped down from the board Dec. 31, 2021, but continues to volunteer and edit the newsletter.

Ritzman expressed gratitude for Roser’s work over the years. “I always appreciated [her] commitment to the NBIA Disorders Association” and how she “helped establish the very foundation of this organization and kept us focused,” he said. “I will miss her wit, tenacity, transparency and boldness in our planning and board meetings.”

 

 

April 2022

By Katherine Fox

Kevin and me at one of his Miracle League Games, circa 2010.

The bond between siblings is undeniably special, but being the sibling of someone who has a disability has its own kind of uniqueness. My older brother, Kevin, was diagnosed with PKAN when I was very young. And even as the youngest of three children, I was a close participant in Kevin’s NBIA journey.By age 7, I was much more acquainted with doctor visits and hospitals than my peers. But I also was introduced to an amazing community of people who I otherwise wouldn’t have known.When I was about 10, most of my Friday nights were spent at Kevin’s Miracle League games, a guaranteed bright spot in my week.

It was comforting gathering with others who understood the intricacies of how a family dynamic is shaped when someone has special needs. The sense of community at those events was indescribably special, and I felt extremely lucky to be a part of it. I’ve learned there’s a lot you can’t control when you grow up with a terminally-ill sibling. I couldn’t control how he felt, the status of his health or the available treatment options. It was hard at times, but witnessing Kevin’s never-ending strength and perseverance helped me through it all.At the end of the day, there was nothing better than seeing his huge smile while we watched “Sesame Street” every night. Little moments like that are among my most cherished. When I entered the scary world of high school, Kevin’s smile had the power to make any school stress or drama fade into the background.

Kevin, our sister Madeline, and me on his 20th birthday.

Although I didn’t have much involvement with the NBIA Disorders Association as a child, I knew as I grew older I wanted that to change. As part of my undergraduate degree, I am required to complete an internship with an organization of my choosing. I’ve been fortunate to do that internship with NBIA Disorders Association. It has helped me grow as a writer and learn so much about NBIA, and, in turn, my brother. Now I feel closer to him than ever, and I’m grateful that this educational experience gave me that opportunity.

 

 

December 2021

For her deep commitment and enduring service to the NBIA community,  Dr. Susan Hayflick of the Oregon Health & Science University received the “Rare Champion of Hope in Medical Care and Treatment” award from Global Genes. 

This award celebrates medical and health care professionals who have made significant contributions to clinical care and treatment of rare conditions. Hayflick was nominated by the NBIA Disorders Association Board of Trustees in recognition of her 30 years of dedication to the NBIA community. 

Global Genes, a leading rare disease patient advocacy organization, annually recognizes and celebrates inspiring individuals who work to improve the lives of individuals with rare disorders. It presented the 2021 awards at a ceremony in Philadelphia in November, held in-person and virtually.

“Dr. Hayflick is the one constant who has been working on NBIA since before most of

us ever heard of it,” NBIA Disorders Association Vice President Mary Ann Roser said on behalf of the board. “She is a source of hope for all of us — for NBIA individuals, their families, the board members and the entire NBIA community.”

Hayflick thanked the worldwide NBIA community for the award, saying, “you are my family.” She spoke of being driven by hope, calling it her “fuel” and “the glue that holds groups together, whether in a laboratory, or at home or in an advocacy community. …Without hope, there is not a path forward, but with hope, everything is possible.”

For the past 25 years, Hayflick has served as the director of the association’s Scientific & Medical

Advisory Board, in addition to being the premier NBIA researcher, expert and supportive physician-friend to patients and families the world over. Her journey began in Buffalo, New York, in 1991 when she received a call from a neurologist who asked for her opinion on a devastating neurological condition affecting three of the four children of an Amish couple who lived nearby. All three children were ultimately diagnosed with PKAN, one of the most common forms of NBIA. The family’s plight touched Hayflick heart and inspired her to look for the gene responsible for the disease.

She has since worked tirelessly to understand NBIA disorders and develop treatments for affected individuals. She, her team and collaborators around the world have discovered such NBIA genes as PANK2 for PKAN, PLA2G6 for PLAN, FA2H for FAHN and WDR45 for BPAN

At OHSU in Portland, Hayflick is a professor and chair of the Department of Molecular & Medical Genetics. Her lab is working with collaborators on a clinical trial for treating PKAN in which patients can receive the compound being tested, CoA-Z, in their community, without having to travel to Oregon. That innovation may become a model for the rare disease community on how to run a clinical trial in a way that prioritizes convenience for patients and families. Travel to a trial site is a known barrier to clinical trial participation, especially in the rare disease community.

In accepting the Rare Champion of Hope award, Hayflick told the audience to “find hope, foster hope, create hope, be hopeful, as I am.”