APBD Research Foundation

11/13/2025

💙 From a Shocking Diagnosis to an International Advocate

We’re honored to share Laurence Letreguilly’s family story as our Foundation continues to unite two communities — those affected by adult-onset APBD and childhood-onset GSD IV (Andersen Disease).

Both conditions stem from changes in the GBE1 gene, and by working together, we can identify more patients and families, strengthen advocacy, and advance research and treatment. 🌍

Laurence shares:
“When my partner Remi and I welcomed our son Marius into the world in December 2019, we couldn’t have imagined how our lives would change… I went from receiving a shocking GSD IV diagnosis to becoming an international advocate for all families impacted by a GSD diagnosis.”

🔗 Read her story: https://loom.ly/J0AzWXI

11/12/2025

In recognition of "National Bladder Health Awareness Month," we're sharing this resource on bladder issues in APBD: www.youtube.com/watch?v=F8QJLCwTAvE.

APBD symptoms include: trouble urinating (neurogenic bladder), stiff and weak legs that impair walking, numbness in the legs, fatigue, and, in some cases, late cognitive decline. But bladder dysfunction is often the initial symptom, sometimes starting 1 or 2 decades before any difficulty walking or sensory deficit.

11/11/2025

This Veterans Day, let's remember the service of our veterans and their families!

11/10/2025

Did you know that NOVEMBER is recognized as "National Family Caregivers Month?"

Let's take time to honor the dedication and resilience of the caregivers who provide strength, comfort, and unwavering -- and often unrecognized -- support for loved ones in our APBD community and beyond. To the caregivers in our community, THANK YOU for ALL that you do!

11/07/2025

We had three amazing guest speakers join our "APBD Patient Chat" events this year! Dr. Gill, Grace, and Sarah, thank you for giving your time and expertise to engage with us, share valuable insights, and foster meaningful conversations as we learn together.

Missed one of our Chats? Find the recordings on our YouTube channel here: https://loom.ly/uOIfv_0

11/06/2025

🧬 | Our Foundation’s Research Manager, Lindsay Gill, PhD, represented APBD families during the N-Lorem Foundation's 2025 Nano-rare Patient Colloquium.

For nano-rare APBD patients with the deep intronic variant, n-Lorem’s work developing personalized medicines using A*O technology offers real hope for future treatments. 💙

🔗 Read the summary of the published study here: https://loom.ly/y86ezZI

11/04/2025

Take Part in the "Rare Disease Generative AI Survey!"

Researchers at Harvard Children's Hospital and Boston Children's Hospital have teamed up to conduct a research study that seeks to understand how patients with rare diseases, and parents of children with rare diseases, are using or thinking about generative AI tools (such as ChatGPT) in their healthcare journeys. The objective is to explore the experiences, attitudes, and perceived benefits or risks of these technologies in the context of rare disease diagnosis and treatment.

Click here to take the survey and lend your voice: https://loom.ly/lWwtnp8 Deadline is November 7, 2025!

The study is intended to inform future research, policy, and practice related to generative AI in healthcare. Thank you in advance for lending your voice!

11/03/2025

💙 Save the Date: December 2 is

GivingTuesday is a global reminder that kindness and generosity can change lives. 🌍

This year, we invite you to join us in bringing hope to families living with APBD. Your gift helps move us closer to one goal we all share — making treatments a reality.

You don’t have to wait until December 2 — you can make an impact today. Every donation, no matter the size, helps bring hope, progress, and a brighter future to our community.

🔗 Donate now: https://loom.ly/en-gK_A

By APBD RESEARCH FOUNDATION

11/02/2025

💙 Honor a Caregiver This November

All through November, we're making time to recognize the incredible individuals who give their time, strength, and compassion to support our loved ones living with APBD. THANK YOU for all you do! 💙 💙 💙

11/02/2025

⏰

It’s time to fall back! Don’t forget to turn your clocks back an hour tonight.
Enjoy the extra hour of rest — and take a little time for yourself as we ease into the shorter days ahead. 🍂

10/30/2025

Join NORD’s Living Rare Study!

Your voice matters. By sharing your experiences with APBD, you help close the data gap that limits awareness and resources for rare diseases.

Every participant makes a difference—shaping better policy, healthcare, and support for our community. 💙

🔗 Learn more: https://loom.ly/8BDOg1Y

10/27/2025

⏰ Only 2 days left — Have you registered yet?

🌍 International APBD Patient Chat — This Wednesday!
We’re thrilled to welcome Grace Viggiano from COMBINEDBrain as our guest speaker! She’ll introduce the CRID (Clinical Research ID), a powerful tool helping advance APBD research, and walk us step by step through how to register during the session.

This is a rare chance to:
✅ Learn how YOU can directly support APBD research
✅ Get a live CRID registration walkthrough
✅ Connect with APBD patients from around the world
✅ Ask questions in a supportive group setting

📧 Register now: https://loom.ly/0lxkwQQ

(Registration is required)