Participate in NORD’s Living Rare Study: Share Your Experience, Help Shape the Future

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While rare diseases impact millions, there is very little recognition of the severity of the public health impacts that they generate. Why is that? Because relatively little data has been developed to document the extraordinary breadth of the impacts.

The National Organization for Rare Disorders (NORD) is addressing this information gap with the launch of the Living Rare Study. We need you and everyone in the GSD IV community to participate. The more people with rare diseases and their caregivers who join the Study, the more powerful the data become -- helping fuel improvements in policy, healthcare, and resources for all rare disease community members.

Foundation’s Executive Director Represents the APBD Community at NORD’s 2025 Breakthrough Summit 

Over 900 rare disease advocates, clinicians, researchers, industry partners, and other leaders gathered earlier this month in Washington, DC for the National Organization for Rare Disease’s (NORD) 2025 Breakthrough Summit.

Natacha Pires, MS, MBBS, our Foundation's Executive Director, attended the three-day conference and shared, “This year’s Summit -- themed 'From Voices to Breakthroughs' -- served as an encouraging reminder of the power of finding patients and families, the importance of collaboration in advancing research, and the value of getting the next generation of advocates involved early.” 

The APBD Research Foundation is proud to partner with NORD in our commitment to the GSD IV and the broader rare community.

Foundation Attends the n-Lorem Foundation’s Third Annual Nano-rare Patient Colloquium

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Nano-rare disease advocates, clinicians, researchers, and industry collaborators gathered in Cambridge (MA) earlier this month for the n-Lorem Foundation’s 2025 Nano-rare Patient Colloquium. 



For nano-rare APBD patients with the deep intronic variant, the n-Lorem Foundation's work to develop personalized medicines -- using antisense oligonucleotide (ASO) technology -- is a critical therapy development program. 

Two sessions of interest included:

• Dr. Konstantina Skourti-Stahaki (Senior Director of Discovery and Research) discussed the ASO discovery process. Her presentation used a published research study about the ASO which targets the GBE1 gene. You can read a summary of the study here.
• Andrew Serrano (Digital Marketing Manager) shared the "Patient Empowerment Podcast" and other resources that n-Lorem has developed to support nano-rare patients.  

For all of the conference recordings, be sure to visit the Nano-rare Patient Colloquium webpage.

Lindsay Gill, Ph.D., our Foundation’s Research Manager attended the Colloquium virtually and stated, “The n-Lorem Foundation is working diligently to provide personalized treatments to patients who are overlooked by large pharmaceutical companies due to the small number of individuals with their particular gene mutation or disease. It is wonderful that a segment of the APBD population may be able to benefit from their groundbreaking work."

Carol Rosenstock Shares Her APBD Journey with the Jewish Standard

Carol Rosenstock recently spoke with the Jewish Standard about her journey from first being diagnosed with MS to receiving an APBD diagnosis.



Carol shared, "For the last 20 years, in jobs at Boston area universities and hospitals, I worked with scientists to support their research, primarily in life sciences and mental and behavioral health. I stopped working in 2024, two years after I was diagnosed with APBD. Now I’m supporting research on a more personal level, as a patient, by participating in a natural history study and several biomarker development studies. Additionally, I also volunteer with the Foundation.”

From a Shocking Diagnosis to an International Advocate: Laurence Letreguilly Shares Her Family’s GSD IV Journey

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We’re excited to share Laurence Letreguilly’s story as our Foundation works to bring two communities together — those affected by the adult-onset form of Glycogen Storage Disease Type IV (known as APBD) and those affected by the childhood-onset form (known as Andersen Disease).



Scientists describe GSD IV as a range of diseases caused by changes in the GBE1 gene. Since these rare conditions are different manifestations of the same underlying genetic root cause, our Foundation believes it is important for the two communities to join forces. By working together, we can identify more patients and families, build a stronger advocate base, and promote advances in research and treatment.

In her story, Laurence shares, “When my partner Remi and I welcomed our son Marius into the world in December of 2019, we couldn’t have imagined how our lives would change. In just a few years, I went from receiving a shocking GSD IV diagnosis for Marius, through a journey of medical mistrust, to becoming an international advocate for all patients and families impacted by a GSD diagnosis.”

SAVE THE DATE: Dec. 2nd is #GivingTuesday

GivingTuesday—held every year on the Tuesday after Thanksgiving—is a global movement that inspires generosity and unites people in making a difference.

Join us in helping make APBD treatments a reality for individuals and families living with this rare disease. Every gift moves us one step closer to hope, progress, and better lives. 



Mark your calendar for December 2, or get a head-start and donate today to join this global day of giving!

Upcoming Events

The Foundation hosts talks, workshops, and scientific meetings for patients, caregivers, health professionals, and researchers. These programs connect our community members and deepen the understanding of how APBD impacts lives.

Patient Chat

Topic: Why Create Your “Clinical Research ID?”

Guest Speaker: Grace Viggiano | COMBINEDBrain 

Oct. 29, 2025 | 12pm ET | 9am PT

This Chat is hosted by volunteer moderator Harriet Saxe. Registration is required.

Caregiver / Family Chat

Nov. 11, 2025 | 7:30pm ET | 4:30pm PT

This Chat is hosted by volunteer moderator Linda Cedarbaum. To learn more and register for this event, email Linda at linda@apbdrf.org.

Life Changes. So Should Your Plans.

We provide this FREE monthly newsletter resource to all of our GSD IV and allied disease community members. This resource is made possible by contributions to the APBD Research Foundation from donors like you. Thank You!