Fighting Every Way I Know How: Family, Future, and Coping with My Husband’s Neurodegenerative Condition

From left to right: Adam (Mark and Robin’s son), Mark, and Robin Knoll at the 2023 Million Dollar Bike Ride

I am a wife, a mother, a grandmother and, since my husband Mark started having symptoms of Adult Polyglucosan Body Disease (APBD) several years ago, a caregiver. Like many others who have APBD, Mark’s journey started with bladder issues. As time went on, it affected his balance, and then his ability to walk and stand. I have lost count of the number of unsuccessful surgeries he had and the number of doctors we saw who were all stumped. 

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NORD Breakthrough Summit Highlights the Power of Advocacy and Collaborations

Over 800 rare disease advocates from patient-led and community organizations, as well as clinicians, researchers, industry partners, regulators, and other leaders gathered in Washington, DC for the National Organization for Rare Disease (NORD) 2023 Rare Diseases and Orphan Products Breakthrough Summit.

The Summit, held on Oct. 16-17, featured talks and panels that addressed the challenges and opportunities in rare disease research, included break-out meetings for members of the IamRareRegistry, covered health equity and mental health issues, and a poster session highlighting over 80 rare disease research efforts.

We took advantage of the Poster Session to disseminate two research efforts:



•  our APBD / GSD IV Clinical Practice Guideline

•  our first APBD-specific patient-reported-outcome tool for health-related quality of life and disease severity (or APBD-SQ)

Natacha Pires, the Foundation’s Executive Director, who attended the meeting, shared, “As a NORD member, we are fortunate to participate with our rare disease peers in collaborative learning under one roof and in person. What I heard repeatedly was the importance of finding our patients, connecting with them, and getting them immersed in every facet of our mission-centric programs.”

The Summit was a unique opportunity to better understand our individual and collective roles as drivers of the rare disease therapeutic development process.

SAVE THE DATE: Nov. 28, 2023 -- A GivingTuesday Surprise Match!

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.

We provide this FREE monthly newsletter resource to all patients.

This program is made possible by contributions to the APBD Research Foundation from donors like you.

Thank You!

Connect with Us

info@apbdrf.org | 646.580.5610 | apbdrf.org

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