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Great Falls teen is battling an extremely rare disease

Oliver
Posted at 4:39 PM, Jan 11, 2024

This story starts with Beta-mannosidosis - an ultra-rare metabolic disorder that affects the cells in our body. I was told if you think of the cell like a town, for people like me that town has a normal waste removal system. For people who are diagnosed with Beta-mannosidosis, that town has no waste removal system and toxins will continue to build and eventually lead to cell death. One of those people diagnosed with Beta-mannosidosis is a 13-year-old Great Falls boy named Oliver.

Let’s take a step back. Oliver was born to a loving mother, Laurel Gregier. In the first few months of his life Laurel didn’t notice anything different about him, not until around six months old. Oliver wasn’t reaching the developmental milestones expected for infants at his age.

“Rolling. He should have been able to roll, and he wasn’t rolling as an infant,” Laurel explained.

Laurel Gregier
Laurel Gregier

Laurel did what any mother would do and took her son to the doctor. In 2012, Oliver was diagnosed with Autism. However, Oliver’s doctor and therapists weren’t convinced this was the final diagnosis as Oliver didn’t present like other kids with Autism. This abnormal presentation lead Oliver’s pediatrician to refer Oliver to the Mayo Clinic in Rochester, Minnesota.

Oliver’s Montana pediatrician, Dr. Sotiropoulos, advocated for Oliver to see a pediatric neurologist. He went above and beyond by researching the staff and calling ahead to speak to the provider about Oliver’s case. Laurel calls it luck because the neurologist Oliver saw was a specialist in leukodystrophy and rare disease.

In Laurel's words, “Doctors are taught, when you hear hoofbeats: think horses, not zebras, meaning first think about the more common diagnosis. But the moment the neurologist stepped into the room, she seemed to immediately know she was not looking at a horse, nor a zebra. She was looking at a unicorn."

Oliver was tested using a lysosomal disease panel and in less than a month the neurologist called to say Oliver had tested positive for Beta-mannosidosis, the day after Christmas in 2014. Oliver was the first person to be diagnosed in the United States. Since then, four other children have been diagnosed with the disease in the US.

In less than a month after being diagnosed, Oliver traveled to the University of Minnesota Fairview Children’s Hospital in the hopes of finding a match for bone marrow. Within a month a match was found, and on March 15th, 2015, Oliver received the first ever bone marrow transplant for Beta-mannosidosis. This procedure was done in the hopes of slowing down the progression of the disease.

Laurel and Oliver
Laurel and Oliver

Laurel and Oliver lived in Minneapolis for nearly eight months, and she illustrates what it was like during that time.

“The transplant was grueling for Oliver, the chemo, the isolation, the painful rehabilitation. I vividly remember my little boy screaming as we shaved his head. Weeks after chemotherapy, his hair was falling out and itchy. We had hoped the haircut would help, but with Oliver’s sensory processing disorder the buzz of the clippers and scratchy hair trimmings were simply too much. We had to stop halfway through the cut, and he kept the rest of his mangled, beautiful blonde hair until it fell out naturally”.

Laurel and Oliver have learned to live with Beta-mannosidosis by having two medical teams, attending multiple doctors and therapy appointments per week, and having an incredible support system made up of family, friends, and the community. When speaking with Oliver, there was hardly a time he didn’t have a smile on his face. Laurel describes him as kind and full of light, I would have to agree. When asking Oliver if he ever questions why he was born with this disease, he told me this.

“No, because it just is not right to think that, and I have the encouragement to keep going with my life."

When speaking with Oliver’s doctors and therapists Laurel came up with a recipe for what she needed to build the waste removal system, an enzyme called Beta-mannosidase. That recipe included patient advocacy, patient population, a devoted scientist, and a bio-tech company to make the enzyme.

First was patient advocacy. In 2021 Laurel was elected to the board of the International Society of Mannosidosis (ISMRD). This platform gave her the opportunity to find other Beta-mannosidosis families, which lead to her second ingredient, patient population.

Laurel then knew four families with kids who have Beta-mannosidosis, and that’s when The Lost Enzyme Project was born. This project was created by those four families including Oliver’s Mom, Laurel. Another mom worked at the University of California, Irvine which led to a connection with a devoted scientist, ingredient number three.

The Lost Enzyme Project

The Lost Enzyme Project works in collaboration with the Kimonis Lab at the University of California, Irvine. Their goals is to complete the pre-clinical studies necessary for the development for an enzyme replacement therapy.

The fourth ingredient, a bio-tech company, is somewhat of a funny story. In February of 2023 Laurel attended the world Symposium for rare disease in Florida as an ISMRD representative. Her goals were to meet with researchers and bio-tech companies. During one of the talks Laurel ended up sitting next to the CEO of JCR Pharmaceuticals and was able to tell him her and Oliver’s story. The next day Laurel had several meetings planned but had to cancel all of them due to catching a stomach bug.

With a day of rest under her belt Laurel had her meeting with Virginia Kimonis, the clinical scientist working with The Lost Enzyme Project. After the meeting both Laurel and Virginia ran into that same CEO of JCR Pharmaceuticals. Laurel was able to introduce the two and that is how the final ingredient came together.

“JCR Pharmaceuticals has partnered with our project to develop β-Mannosidase, the enzyme lost in beta-mannosidosis patients, using its patented, state of the art, J-Brain Cargo technology, which will cross the brain blood barrier (BBB) and deliver this life-saving enzyme directly to the brain and body. Our project, working through the University of California Irvine Foundation, has set a goal of raising $520,925.00 by August 1, 2025, to fund the preclinical studies and research necessary to move into enzyme development with JCR Pharmaceuticals,” said Laurel.

Several community members and organizations have come together to support Oliver and the Lost Enzyme Project. One of those organizations is the Health Occupation Students of America (HOSA) club at CMR High School.

HOSA) club at CMR High School
HOSA Club students at CMR High School

“He’s a super sweet kid and we just want to do anything we can to help him,” senior Hailey Herda explained.

HOSA will be hosting several events to support Oliver and details of those events can be found on their Facebook page.

If you would like to donate directly to the Lost Enzyme Project, click here.

Oliver and Laurel appreciate all the love, support, and donations from the community. Oliver had this to say: “I just enjoy having every bit of love."

Oliver Regier