Rare Disease Day: Great Falls Teen One of the 'Ultimate Medical Underdogs'
Rare Disease Day is the last day of February, allowing it to be observed on Feb. 29, or Leap Day, every four years. Rare Disease Day is dedicated to raising global awareness and advocating for improved healthcare, better access to diagnosis, and treatment for individuals affected by rare diseases.
Oliver Mills is a 13-year-old boy getting ready for a trip to Minneapolis. He is excited to go see an NBA game, go shopping at a big mall, and eat at some his favorite places. But the purpose of this trip isn’t sightseeing and fun activities. It’s a medical “anniversary” trip. Oliver is going to see the doctor who performed his experimental bone marrow transplant — along with a long list of other specialists who will perform an even longer list of tests and screenings.
In 2014, Oliver was diagnosed with beta-mannosidosis, an ultra-orphan lysosomal disorder. It is a progressive disorder that currently has no specific treatment. It is an incredibly rare disease. In fact, Oliver’s diagnosis was the first on record in the United States.
“People in the rare disease community are the ultimate medical underdogs,” says Laurel Gregier, Oliver’s mother. “Very few people know about these conditions, there is little funding to study them, and there is often no treatment.”
Laurel describes her son’s rare disease in these simple terms, “If you consider each cell to be a town, Oliver’s cells are missing a waste removal system, so the town becomes overrun with waste, which makes that town operate ineffectively or may shut down the town altogether.”
They say it takes a village to raise a child, and in the case of a child with a specialized health condition, that village includes many healthcare professionals. Oliver sees a list of specialists in Minneapolis and Philadelphia, but he also sees many medical and therapy providers in Great Falls, including three at Benefis, where he has received care since age 2.
Oliver, or Ollie, as he is often called, has an excellent attitude about his revolving schedule of medical appointments.
“I like going to appointments with them,” he says with a smile.
“We have a really great relationship with his providers,” Laurel adds. “They are almost like extended family.”
Dr. Emily Grant is Oliver’s pediatrician. The task at the top of her list at the moment is clearing Oliver for sedation for his MRI in Minneapolis. Oliver is getting over a flu or cold virus. Like many others, this winter brought illnesses to Oliver’s household. He was sick during winter break, but this time he is taking a little longer to bounce back.
“With rare diseases, you always wonder if anything that comes up is tied to the disease,” says Dr. Grant. “And with limited information available you wonder, ‘Who do I ask?’”
The progressive nature of beta-mannosidosis is difficult for Oliver and his loved ones. It also leads to additional medical hurdles that his care team works to manage. Oliver has swallow therapy, occupational therapy, and physical therapy each week (all in the same day).
“Oliver is such a trooper,” Laurel says. “He loves his life. He is so resilient and goes with the flow. He understands that all his medical appointments are important.”
Swallow therapy is with Speech-Language Pathologist Laurie Grisham at the Benefis Outpatient Therapy Center.
“As he progresses through this disease, we noticed that swallowing was getting difficult,” Laurel explains. “He had a choking incident that prompted this therapy. He started in October, and we’ve seen so much progress. Laurie is wonderful. She is so patient.”
Laurie uses surface electromyography (EMG) and neuromuscular stimulation during therapy sessions. The EMG signals help reinforce the sense of a strong swallow for Oliver. Humor is also a part of these sessions.
“Hopefully this water tastes better than last week,” Laurie says.
Oliver takes a sip and Laurie watches the monitor.
“It tastes like hospital water,” Oliver replies.
“It’s bottled,” Laurie says with a smile. “It must just be the environment.”
Swallow therapy is not always comfortable for Oliver, but he chats with Laurie about basketball and smiles throughout his appointments.
“He truly just lights up my day,” Laurie says. “When I know I get to see Oliver, I am excited to get to work.”
Oliver has scoliosis and uses a walker, which has further impacted his posture. At school he uses a “pretty cool” electric scooter, but during physical therapy (PT) he stands on his own under the encouraging guidance of Pediatric Physical Therapist Morgan Talley.
She works on functional goals with Oliver, like standing and sitting balance.
“If I ask him to stand up tall, he stands up tall. If I ask him to sit up tall, he does,” Morgan says as she playfully taps Oliver on the top of his head.
He chats with her about music in between stretches and exercises. Laughter is part of PT, too.
Morgan works with Oliver to help him keep up with the everyday tasks most of us take for granted, such as getting dressed. Disease progression and the rapid growth of childhood provide an even bigger challenge when combined.
“His muscles can’t keep up with how he is growing,” she says.
Oliver received his highly experimental bone marrow transplant at age 4. It was a grueling process for Oliver and his mother. After a year of rehabilitation following the transplant, Oliver’s motor and speech skills rebounded, but his vision was compromised. The transplant was considered a success, and Laurel believes it slowed the progression of his disease, but without a treatment that can cross the blood-brain barrier, the disease progression will continue.
Laurel is a licensed mental health counselor at Benefis. She works as a behavioral specialist in the Emergency Department. But her “life’s work” is to better understand her son’s disease and manage his medical needs. She serves on the board of the International Society for Mannosidosis and Related Diseases. The ISMRD represents nine glycoprotein disorders, including beta-mannosidosis.
Through that organization, Laurel discovered a path to developing an enzyme replacement therapy. It is a long and complicated path — one that is still unfolding before Laurel, Oliver, his loved ones, and many others on this journey.
Learn more about the research process at the Kimonis Lab at the University of California, Irvine with support from JCR Pharmaceuticals.
Since Oliver’s diagnosis, three other children in the U.S. have been diagnosed with beta-mannosidosis. Laurel teamed up with the mothers of those children to form The Lost Enzyme Project, to fundraise for the preclinical studies necessary to create beta-mannosidase, the enzyme lost in beta-mannosidosis, and move into human trials.
“There is the technology to develop this treatment, it just hasn’t happened yet,” Laurel says. “We want to see this change in the world.”
Despite his positive attitude and resilience, at times Oliver longs for the days that he could move freely and see clearly. He dreams of playing basketball for his favorite team, the L.A. Lakers.
Laurel dreams of game-changing treatment.
“With a diagnosis like this, you either decide you’re going to climb the mountain, or you sit at base camp and weather the storms,” she says. “I’ve never been able to just sit back and do nothing. I want to get Oliver through this.”
For more information about the Lost Enzyme Project, including information about how to support the development of a treatment, click here.
