Health Coverage: BioMarin commemorates 5 years of helping children with Batten disease

BioMarin commemorates five years of helping children with Batten disease

Brineura reduces the effects of the rare, fatal, hereditary illness afflicting toddlers

By SUSAN WOOD

The North Bay Business Journal

Despite a fatal, genetic children’s disease tearing through the fabric of the Bowman family, it was no match for their love, commitment and resilience.

Bekah Bowman, a Boise mother and author of the blog and book

“You Can’t Steal My Joy,” considers herself blessed.

This despite having lost her son Titus at age 6 to a form of Batten disease (CLN2) in 2016, a year after he was diagnosed. Then, she found

out his youngest brother, Ely, has it too, since both she and her husband Danny are carriers.

The parents’ journey with Titus began in 2014 and then led to Ely, who at almost age 2, was also diagnosed. But there’s hope for the youngest son in a clinical trial with a

drug developed by San Rafael-based BioMarin Pharmaceutical. The Bowmans started the trials in Columbus, Ohio, then went to Orange County when they moved for work. Now in Idaho, they go to St. Lukes Children’s

ROBERT HOUSER

The Bowmans inspect Titus’ locks on the Trees of Life sculpture on BioMarin’s San Rafael campus. Greeting visitors at its San Rafael headquarters, the BioMarin Trees of Life sculpture is a steel, waterjetcut sculpture that was commissioned in 2018 by a local artist, Gordon Huether, whose motto “art matters” is in line with its symbolism of unyielding love.

BIOMARIN

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Hospital in Boise.

A HARD-FOUGHT JOURNEY

One day, Titus’ Chicago-area preschool teacher called and told Bowman her son was laying down a lot in class.

“(The teacher) said he kept laying down on the rug. He didn’t respond and was shaking. He was having seizures,” the 38-year-old mother said

A year later, he was diagnosed with the rare, hereditary pediatric brain disease that affects about 20 children a year in the United States.

Titus lost his vision and speech functions as well as showed difficulty drinking, eating and normal movement. He was later confined to a wheelchair before succumbing to the insidious disease. The seizures forced Bowman to put a helmet on his head, so he wouldn’t injure himself when the seizures occurred often.

“It was scary,” Bowman summarized the experience.

The Bowmans discovered BioMarin’s clinical trial established to test Brineura, which was approved by the U.S. Food and Drug Administration in April 2017. It was the first time an enzyme-replacement therapy was directly delivered effectively to the brain. Ten days after 3-year-old Ely went into the trial, Titus — who Bowman describes as adventurous, joyful and trusting — died.

“It was hard on all levels. It was even hard to throw out his medicines because they were a part of him,” Bowman said of the loss, with her voice cracking.

Bowman channeled her grief into a blog, book and the posting of a song written and performed by family friend, musician Jeromy Deibler.

Ely, defined as an “independent little soul” by his mother, turns 9 in July. The young boy is going blind and has lost some of his speech ability.

“I’ve learned to listen well,” she said.

His treatments his mother calls “brain juice” involve injections into the brain to “clean up the junk in cells that eventually cause cell death.”

Although there is no cure for life with CLN2, Brineura has limited the severe, immediate impacts of the disease. Its main benefit for Ely and others involves the treatment that staves off the loss of muscle control. He doesn’t experience seizures like his late, older brother.

Dr. Dave Jacoby, who came on board with BioMarin in 2013 to help run the discovery medicine department, said the

best that can be said is the treatments slows the progress but does not cure the disease. Still, the doctor is proud of the achievements of BioMarin, a global biotechnology company that specializes in innovative therapies for patients suffering with serious and life- threatening consequences of rare diseases.

In the case and development of Brineura, the shots have shown real benefits in the patients’ quality of life, as Bowman also pointed out.

If anything, since the injections are placed in a catheter to ventricles and travel throughout the brain, the results prove more promising than if isolated to one spot in the brain.

Jacoby said there’s no plan to expand the drug into pill form since the injection works more effectively by circulating to every “cell in the brain.”

“It has really opened our eyes for treating pediatric disorders,” he said, adding the biomed company is especially “proud” of the accomplishment. “The drug preserves functions and helps the patient keep going.” And that’s the simple ask most parents like the Bowmans make — to gain more time.

To symbolize its commitment to the efforts to combat the disease, BioMarin

BATTEN DISEASE

CLN2 Batten disease is a rare, inherited, fatal disorder that primarily affects the nervous system as a result of a failure to produce enough of the enzyme TPP1. The signs and symptoms of this condition typically start between the ages of 2 and 4, featuring recurrent seizures and coordination difficulty.

BioMarin Pharmaceutical in San Rafael developed a drug called Brineura five years ago that reduces the rate of decline in children afflicted with this batten disease, which is fatal, hereditary and comes in 13 types. The disorder impacts the body’s ability to get rid of cellular waste. The buildup on the cells causes the symptoms such as seizures, vision loss and problems with movement.

has erected a “Trees of Life” sculpture on its San Rafael campus. Greeting visitors at the headquarters, the sculpture is a steel, waterjet-cut sculpture that was commissioned in 2018 by local artist, Gordon Huether, that’s in line with his motto “art matters” symbolizing unyielding love.

“Every day, week, month and year of

maintaining clinical function, including language and mobility, is critical to children with CLN2 disease and their families,” said Angela Schulz, a pediatrician at Children’s Hospital in Hamburg-Eppendorf, Germany who runs a long-established clinical trial program with Brineura. “Following these children has allowed us to better understand the effect of the treatment over time, which contributes to the advancement in the standard of care.”

And for families like the Bowmans, the little victories go a long way in savoring the moments that make their lives matter.

As Bekah’s blog excerpt reads: “And we all need a hope that doesn’t disappoint, a love that anchors us, joy that survives in unthinkable conditions, and a perspective shift that goes beyond our circumstances.“

Susan Wood covers law, cannabis, production, tech, energy, transportation, agriculture as well as banking and finance. For 27 years, Susan has worked for a variety of publications including the North County Times, Tahoe Daily Tribune and Lake Tahoe News. Reach her at 530-545-8662 or susan.wood@busjrnl.com.

The Bowmans turned to BioMarin for a clinical trial to treat the CLN2 batten disease in the youngest of their two children.

Dave Jacoby