Oliver’s Story: What It’s Like to Live with Beta-Mannosidosis

For the first six months of his life, Oliver Grieger seemed to be developing fairly normally. He was a happy, bubbly baby. His mother Laurel found joy in every smile, every laugh, and still does; 13-year-old Oliver is friendly, kind, and loves making friends. But when Oliver was around six months old, Laurel noticed that his development slowed. Oliver wasn’t meeting developmental milestones; he couldn’t roll on his own. This was the first step towards Oliver’s eventual beta-mannosidosis diagnosis, reports Maggie Reilly of KRTV Great Falls.

Oliver’s Story

At first, doctors diagnosed Oliver with autism. Yet some things didn’t quite fit. Oliver was referred to the Mayo Clinic, where he saw a neurologist who specializes in rare conditions. After many tests, including a lysosomal disease panel, Oliver was diagnosed with beta-mannosidosis in December 2014—two years after Laurel first started looking for answers. 

The diagnosis itself was shocking—but even more shockingly, Oliver was the first child in the U.S. who was diagnosed with this condition. Following his diagnosis, Oliver underwent a bone marrow transplant in 2015; doctors felt that this could potentially slow the disease progression. It was a difficult time for the boy, both emotionally and physically. But Oliver remained resilient.

So did Laurel. In fact, Laurel began brainstorming how to develop a treatment option for beta-mannosidosis. She dove into advocacy work, becoming a board member for the International Society of Mannosidosis & Related Diseases and further connecting with the community. Meeting other families affected by this disorder was transformative. Laurel, alongside three other families, then launched The Lost Enzyme Project. In collaboration with the Kimonis Lab at the University of California, Irvine, The Lost Enzyme Project is working to complete preclinical studies that would allow for the development of an enzyme replacement therapy (ERT). 

So what’s the plan now? The Lost Enzyme Project partnered with JCR Pharmaceuticals to create a beta-mannosidase ERT. JCR Pharmaceuticals’ proprietary and patented J-Brain Cargo technology carries beta-mannosidase across the blood-brain barrier, allowing for better and more targeted treatment. 

Over the next 1.5 years, The Lost Enzyme Project is working to raise more than $500,000. These funds will support research and eventual ERT development. If you would like to contribute to the cause, you may donate here

About Beta-Mannosidosis

Beta-mannosidosis is a very rare inherited disorder caused by MANBA gene mutations that impacts how the body processes sugar molecules called oligosaccharides. The beta-mannosidase enzyme breaks down and clears oligosaccharides out of lysosomes in the cells. People with beta-mannosidosis don’t have functional beta-mannosidase. As a result, these complex sugar molecules accumulate in cells to the point of toxicity, causing cells to die. 

It can be difficult to diagnose beta-mannosidosis. Symptoms vary in severity and the age of onset differs significantly; some individuals show signs in infancy and others in adulthood. The global incidence is unknown. At least 20 people have been diagnosed but some may go misdiagnosed or undiagnosed. Potential symptoms, from what we understand, may include:

  • Hypotonia (low/poor muscle tone)
  • Impaired speech
  • Hearing loss 
  • Dysphagia (difficulty swallowing)
  • Increased risk of ear and respiratory infections
  • Intellectual disability 
  • Peripheral neuropathy
  • Delayed motor development
  • Angiokeratomas (enlarged blood vessels that form small, dark red spots on the skin) 
  • Emotional or behavioral difficulties such as introversion, depression, impulsivity, aggression, and/or hyperactivity
  • Seizures

Learn more about beta-mannosidosis here.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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