APBD Tour de Friends

APBD Tour de Friends Giving Page

Help Raise Funds for Vital APBD Research

Currently, there is no treatment or cure for APBD. Adults are impacted in the prime of life, and the debilitating symptoms progress relentlessly. This is a powerful opportunity to advance research! Each dollar raised up to $50,000 will be doubled through a matching grant. All levels of giving are welcomed with gratitude.

 

What is APBD?

Adult Polyglucosan Body Disease (APBD) is certainly a tongue-twister of a name, and its diagnosis certainly challenges even highly talented physicians. It’s a rare, inherited disorder of metabolism, yet its impact is on the nervous system. It’s a genetic disease that gives no indication of its presence during infancy and childhood, yet it manifests itself relentlessly in adults as young as 35. While initial symptoms that bring sufferers to their doctors are remarkably similar, the progression thereafter of losses and disabilities varies from person to person.

 

APBD is consistently mis-diagnosed, undiagnosed, and under-diagnosed. Most often, sufferers are told they have MS, ALS, peripheral neuropathy, and other severe, degenerative ailments which have similar symptoms. While waiting for a correct diagnosis — or until life ends if there is no correct diagnosis — sufferers see their lives fill with inexplicable decline, useless surgeries, and inappropriate medications.

 

When it’s in its early stages, this memory tool — based on the disease’s initials — helps with identification:

  • A – Adult with symptoms beginning between the Ages of roughly 40 and 60. Occurs most frequently – but not exclusively – in patients of Ashkenazi Jewish origin.
  • P – Peripheral neuropathy (numbness or tingling or pain in any of the following: toes, feet, calves, fingers, hands, arms)
  • B – Bladder dysfunction (frequency more than normal or bladder control problems)
  • D– Decreased energy, or sleep needed more often than the norm

 

Ultimately, most APBD patients lose sensation and muscle control in their feet, legs, fingers, and hands; lose their ability to stand, walk, grasp, and perform fine motor skills; lose bladder and bowel control; lose the ability to digest food; and lose the ability to breathe unassisted. Patients experience daily periods of exhaustion, since a key metabolic function in their bodies is compromised. About half of APBD patients also have cognitive losses.

 

Research is Bringing Us Closer to Treatment and Cure

APBD is a glycogen storage disorder brought about by mutations in the Glycogen Branching Enzyme gene, GBE1. Twenty years ago, the first inroad to understanding APBD was made. In two decades, so much more has been discovered, and insightful hypotheses relating to treatment and cure are being rapidly generated. We’re closing in on answers. The research needs to be accelerated! You can help. Please donate.

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