Seeking Volunteers from the APBD Community

Your participation as a patient or a family member can contribute to the discovery of biomarkers that could transform diagnosis and treatment. Explore these two exciting opportunities:


Help Advance APBD Biomarker Research Through the “Pee for APBD” Study

Dr. Berge Minassian and Dr. Mayank Verma at the University of Texas Southwestern Medical Center are conducting the “Pee for APBD” study to identify potential urine biomarkers. They need participants from the APBD community, including patients, asymptomatic individuals, carriers, and family members. No travel is required. To learn more or to participate in this study, email Dr. Verma at mayank.verma@utsouthwestern.edu.


Help Advance APBD Biomarkers Research Through An Innovative MRI Study

Dr. Nirbhay Yadav in the F.M. Kirby Center at the Kennedy Krieger Institute is seeking volunteers with an APBD diagnosis for an innovative MRI study aimed at identifying glycogen-based biomarkers. If you are able to travel to Baltimore, please email Dr. Yadav at nyadav@jhu.edu.


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Navigating a Rare Neurodegenerative Disorder as Mother and Daughter



Before her diagnosis, my mom Ginny was extremely active and healthy. So, in 2013, when she began experiencing symptoms like incontinence and difficulties with walking, we knew that something wasn’t right. We heard many potential explanations for my mom’s symptoms before receiving her diagnosis in 2018. The Kennedy Krieger Institute in Baltimore, Maryland, figured it out via genetic testing.


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Get Ready to Double Your Impact on GivingTuesday!

GivingTuesday, held every year on the Tuesday after Thanksgiving Day, is a global generosity movement, unleashing the power of people and organizations to transform their communities and the world.


In recognition of GivingTuesday, our Board of Directors has set up a dollar-for-dollar match, up to $25,000. Their generosity stems from a deep commitment to make APBD treatments a reality for individuals and families living with APBD. 


Mark your calendars for GivingTuesday, Dec. 3rd, or get a head start and donate today.


Make a gift and double your impact!

Foundation on the Road: Advocating for You and Learning from Peers at Key Stakeholder Meetings

n-Lorem Patient Colloquium | Boston, MA | Oct. 30-31


Becca Reef, MS, CGC, the Foundation’s Scientific Coordinator, attended the 2024 n-Lorem Patient Colloquium, joining the nano-rare community for an inspiring two-day event. Because a handful of our patients qualify for ASO therapies with n-Lorem, it was especially important for us to support this gathering and gain deeper insights.


Becca had the opportunity to hear from n-Lorem leadership about their exciting progress and vision for the future of personalized ASO therapies. She also listened to powerful stories from patients and families, learning firsthand about their experiences. It was a truly impactful event, underscoring the rare disease community’s shared commitment to advancing these promising therapies for patients in need.

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Upcoming Events

From Chat events to workshops and scientific symposiums, the Foundation hosts programs for patients, caregivers, and health professionals which connect our community members and deepen the understanding of how APBD impacts lives.


These events offer peer support, opportunities to hear from health experts and Foundation leaders, and the chance to raise funds for APBD research.


Patient Chats

Nov. 20, 2024 8pm ET | 5pm PT

Topic: Biomarkers: What are they? Why are they important?

Guest Speaker: Becca Reef, MS, CGC, the Foundation’s Scientific Coordinator. 


Dec. 18, 2024 8pm ET | 5pm PT


This Chat is hosted by volunteer moderator Harriet Saxe. To learn more or register for the November event, email Harriet at harriet@apbdrf.org.


Caregiver / Family Chats

Dec. 12, 2024 7:30pm ET | 4:30pm PT

Jan. 9, 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.

What Will Your Legacy Be? 

Creating a will is easier than ever! In as little as 20 minutes, you can secure your family’s future and make a lasting impact. The APBD Research Foundation partners with FreeWill, a trusted tool used by over a million people. By making a will, you can outline your wishes, give your loved ones peace of mind, and support APBD research. 


Start my Legacy


If you have any questions about FreeWill or legacy giving, please contact Anesa Kajtazovic at anesa@apbdrf.org.

 

P.S. If you have already included a gift to the APBD Research Foundation in your estate plan, please fill out this form! We’d love to thank you for your generosity.

 

Disclaimer: Please note that FreeWill is not a law firm and cannot provide legal advice, nor can the APBD Research Foundation. We would always encourage that a lawyer review your will and any other important legal documents FreeWill may generate for you.

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