Neuroacanthocytosis Advocacy USA, Inc.

11/11/2025

Big news! Report - in lay language - on the recent symposium in Lausanne.

The wait was worth it! Our full report from the 12th International Symposium on Neuroacanthocytosis Syndromes is now live. And yes, it took a little while, but when you’re capturing the wealth of information from the three days, every word matters.

📥 Read / Download the full report on our website: https://naadvocacy.org/symposia/

From collaborative research updates to heartfelt patient-oriented sessions, this year’s gathering in Lausanne reminded us why connection and curiosity go hand in hand!

We highly recommend spending some time reading the separate, detailed reports for the patient-oriented sessions (links in the report and on the website). They’re packed with helpful, practical information specific for NA and they cover important topics: occupational therapy, mental wellbeing, speech and swallowing therapies.

🔁 Share it with anyone who cares about rare disease advocacy, science, and community!

We’ll follow shortly with translations in few other languages (German, French, Spanish and Portuguese), too!

Neuroacanthocytosis Advocacy USA, Inc.

11/06/2025

Are they not beautiful? Group photo from the 2025 International Symposium on NA and VPS13-related diseases in Lausanne, Switzerland, mid-September 2025. Photo includes patients, families, caregivers, researchers, and clinicians.

11/05/2025

Announcing that an anonymous donor has stepped forward and will be matching any donations made between October 13 and December 31, 2025 to Neuroacanthocytosis Advocacy USA, Inc. given in memory of Mark. Additionally, the donate button on the webpage has been updated so that you may write in that you are donating in memory of Mark.

The website is www.naadvocacyusa.org

Both Mark and his late brother Eric, who also had XK disease, were brain donors. Additionally, Mark freely donated other bits of tissue. I share this only to express how important this research on XK (Mark's disease) and VPS13A diseases was to him. While the diseases do not effect many people (thank goodness), both are hereditary diseases. We need to find better treatments and ultimately a cure.

So very grateful to those who have already donated, and those to come.

10/23/2025

Sharing the news that my courageous, kind, and giving husband, Mark, died peacefully on October 13th. Mark was officially diagnosed with XK disease in 2009. You can read more about him in the obituary written by our youngest daughter, with input from her sister and me.

Mark David Williford Born on October 20, 1953 in Orlando, Florida Passed on October 13, 2025 in Melbourne, Florida Mark David Williford died peacefully on October 13th in Melbourne, Florida just shy of his 72nd birthday. Born October 20, 1953 in Orlando, the son of Kay Reece and Pauline Knarr Willif...

09/24/2025

Always appreciative of Despina, charity manager for The Advocacy for Neuroacanthocytosis Patients, for her behind-the-scenes work making the forum information available and understandable to us lay folk. Here is her summary report of the 22nd VPS13 Forum Report. Her post below includes dates for upcoming VPS13 forums.

🧬 Just published 👉 The 22nd VPS13 Forum Report

At the end of July, over 60 participants joined us to hear the latest on VPS13 and XK proteins - from cutting-edge structural biology to new discoveries about brain repair, cell stress, and mitochondrial health.

We also shared updates on our new three-year Strategic Plan which will be published soon on our website.

It took us a while to publish this report because we’ve been very busy bees with the 12th Symposium which took place in Lausanne in mid-September. So more reporting coming your way soon!

In the meantime, next Forum dates for your diary:
• 24 November 2025
• 26 January 2026
• 27 April 2026
• 27 July 2026
• 26 October 2026.

The VPS13 Forum brings patients, families, clinicians, and researchers closer, all in the spirit of searching for clues to a cure.

📖 Read the full report here:https://naadvocacy.org/wp-content/uploads/2025/09/REPORT-22nd-VPS13-Forum-28Jul2025.pdf

📖 Browse the archive: https://naadvocacy.org/research-forum

09/18/2025

Despina says it well.

09/14/2025

Will post more later when I am less tired, but did want to share this wonderful pic of all the patients and their families and caregivers (plus Dr. Ruth Walker) who attended the 12th International Meeting in VPS13-related Syndromes in Lausanne, Switzerland. What a wonderful and inspiring group! We deepened existing relationships and established new ones. So important to know you are not alone in this ultra-rare disease world.

09/12/2025

Day 1 of the 12th International Symposium on Neuroacanthocytosis, Cohen Syndrome and other VPS13-related Disorders is in the books. Meeting planners here in Lausanne have worked hard on their preparations and it shows. Splendid job!

Patients and their families are here from France, Portugal, the UK, and from all over the US - California, Minnesota, Ohio, and Florida. All but two of our board members made it. It’s fun getting to know others and sharing stories.

It’s encouraging to see all the researchers and clinicians here, and to witness their passion for, and commitment to, the work.

Grateful for this time together. Grateful for the research being undertaken.

09/10/2025

Check out this great piece on Doug and Erin Berndsen in Rare Revolution. Doug has XK disease and the piece shares their difficult - and all too common - journey towards diagnosis and treatment challenges.

A rare neurological condition would challenge everything Doug knew about his shared future with wife Erin. Their collective story highlights the profound human impact of a delayed diagnosis, and the extraordinary strength required to navigate an uncertain and progressive disease arc. Read here:
https://bit.ly/Doug-At-What-Cost

Advocacy for Neuroacanthocytosis Patients An ultra rare disease

09/01/2025

Enjoy this featured article about the work of Glenn and Ginger Irvine and The Advocacy for Neuroacanthocytosis Patients, our “sister” organization.

We’re honoured that RARE Revolution Magazine featured us in their latest edition, Rare neuromuscular. It’s a recognition of Glenn and Ginger Irvine, founders of our charity, as we mark 25 years of Advocacy for Neuroacanthocytosis Patients. The article reflects on their extraordinary contribution and legacy, the creation of the Glenn Irvine Prize, the patient stories that remain at the heart of everything we do, and our new strategic plan looking to what we want to achieve by 2028 and beyond.

There is also a second piece in this issue from Erin and Douglas Berndsen, and their story is of great help to raise awareness of VPS13A and XK diseases, continuing the important work of bringing these ultra-rare conditions to wider attention. Neuroacanthocytosis Advocacy USA, Inc.

A huge thank you to Rare Revolution for recognising our journey and amplifying patient voices!

📰 Read the articles here: https://bit.ly/From-The-Ground-Up
📰 Read the full issue here: https://bit.ly/RARE-Neuromuscular

08/27/2025

Congratulations to Dr. Marianna Leonzino and deep appreciation for her dedication to the study of VPS13-related disorders.

🌟 Announcing the 2025 Glenn Irvine Prize Winner! 🌟

We are delighted to award this year’s Glenn Irvine Prize to Dr Marianna Leonzino, in recognition of her outstanding contributions to research on the VPS13 protein family.

Her work has spanned from groundbreaking discoveries during her postdoctoral training in Pietro De Camilli’s lab at Yale, to leading her own research group at the Institute of Neuroscience of the CNR at Humanitas.

In her words:
“My interest in the VPS13 protein family began during my postdoctoral training [...] at Yale University. I contributed to seminal discoveries showing that VPS13 proteins act as lipid transfer proteins and localize at specific points where cell membranes meet. I also helped identify their binding partners and clarified how different human VPS13 family members (especially A, C, and D) connect to distinct cellular functions.

In recent years, I have been leading my own research group focusing on VPS13D. Because completely removing this protein is lethal for cells, we developed innovative models that allow us to study its function in living cells and in human neurons. These models are now giving us highly relevant insights into how VPS13D works, why its loss causes disease, and how this knowledge may guide future therapies.”

The Glenn Irvine Prize honours the memory of our charity’s co-founder and celebrates the work of young scientists whose research advances understanding of VPS13 and XK diseases. The idea and a large part of the prize fund was a generous contribution from Carl and Betty Pforzheimer. Thanks to them, the Prize can continue to be awarded for many years to come, and for this we are very grateful.

👏 Please join us in congratulating Dr Leonzino on this well-deserved recognition! The Prize will be formally awarded at the 12th International Meeting for Neuroacanthocytosis Syndromes, Cohen Syndrome and VPS13-related disorders on 14 September 2025, where Dr Leonzino will also present her research work.

https://naadvocacy.org/the-glenn-irvine-prize/

07/31/2025

Hot off the press! Check out our latest NA News!

Thank you for reading this 48th edition of NA News. Inside this issue you will find information about the upcoming 12th International Meeting of Neuroacanthocytosis, Cohen Syndrome, and other VPS13-related diseases, the latest news on research from Italy and New York, and a story on a recent Q&A fo...