At age 13, Tasha Veinbergs visited her family doctor to have him look at a small cyst on her hand. No big deal.
On an impulse—since they had the doctor’s ear—Tasha’s mom mentioned an unrelated concern. Tasha, after joining the middle school cheerleading squad, discovered she couldn’t really jump.
“You can’t jump? Show me,” the doctor said.
Tasha gave him a demo. She didn’t have the leg strength to put much air between her feet and the floor.
Come to think of it, she never ran as fast as her siblings, never showed much stamina in gym class.
“I always needed to work a little bit harder at that,” she recalled.
All of this raised a red flag for her small-town general practitioner.
“He took it on and was like, ‘Hey, I’m going to figure this out,’” said Tasha, now 29.
The doctor ordered bloodwork, which revealed elevated levels of a protein called creatine kinase in Tasha’s blood—an indication of muscle damage.
To confirm these findings, he ordered a muscle biopsy and referred Tasha, who lived in Pewamo, Michigan, to a neurologist in Lansing.
Within months—faster than usual for hard-to-diagnose issues—the neurologist arrived at a diagnosis: She had a rare, inherited metabolic disorder called Pompe disease. It affects just 1 in 40,000 people in the United States.
Pompe disease has no cure and is often fatal. For patients like Tasha, whose disease showed up later in childhood, the muscles used for walking and breathing become progressively weaker.
When doctors diagnosed Tasha, a treatment had yet to be approved.
By the time she turned 25, her neurologist warned the teenager, she’d be “on a ventilator, in a wheelchair and have 24/7 nursing care.”
Despite the devastating news, Tasha didn’t dwell on it.
Resilient and outgoing, she quit cheerleading, took up acting and focused on her friends.
She had a life to live.
Advent of treatment
Fortunately, treatments for Pompe were under development. In 2006, just three years after Tasha’s diagnosis, the U.S. Food and Drug Administration approved enzyme replacement therapy for patients with the neuromuscular disease.
Her dad was watching the local TV news, Tasha said, when they learned about the therapy.
“He’s like, ‘Come out here. This girl has the same thing you do,’” she said.
The news story told of a family in Rockford, Michigan, whose daughter would be among the first patients in the country to receive treatment for Pompe disease.
Dr. DeRoos confirmed Tasha could be a candidate for the therapy.
He explained the process: She would receive a lengthy IV infusion every two weeks through a chest port—for the rest of her life.
This treatment schedule would have a huge impact on Tasha’s school and work schedules in the years to come.
“But it was treatment,” she said, “so we were super excited.”
People with Pompe disease have a genetic mutation that blocks the production of the enzyme that breaks down glycogen, a type of sugar, in the body’s cells. The buildup of glycogen impairs muscle function.
“Enzyme replacement allows her body to break that glycogen down and slow the progression of symptoms,” said Stacie Adams, MD, a biochemical geneticist at Helen DeVos Children’s Hospital who now oversees Tasha’s treatment.
Tasha began receiving biweekly infusions—either at home or at an infusion center—at age 16.
Though she didn’t regain much strength and still relied heavily on handrails when climbing stairs, the treatments kept the disease in check.
Tasha created a life for herself.
She started a career, got married and had two children, Lily and Kiera. During both pregnancies, she suspended her enzyme therapy, Lumizyme, because researchers didn’t know whether it would be safe for the developing babies.
After giving birth, she helped initiate a research study on enzyme therapy and lactation.
“I would pump before, during and after the infusion (and donate) the milk to go into the study,” she said.
Though other women have since joined the study, the sample size is still too small for conclusions.
“She’s someone that has lived the natural history of this treatment.”
In 2017, when her daughters were 6 and 4, Tasha’s symptoms worsened. Standing from a seated position on the floor became more difficult, and her fine motor skills declined.
Eager for new treatment options, she and her family made a temporary move to Durham, North Carolina, where the world’s leading Pompe disease expert had launched a new clinical trial—one that required participants to reside locally.
Tasha wanted in.
“I was like, ‘Lumizyme has done great things for me and I’m still really active, but I can tell that I’m progressing faster than what I would like to be,’” she said. “I’m ready for something more.”
After a year on the trial, Tasha withdrew from the study because of unexplained weight loss and other side effects. She returned to Grand Rapids and assembled a new medical team, including Dr. Adams, a Pompe disease specialist relatively new in town.
Dr. Adams started Tasha on a new infusion regimen—a double dose of enzyme replacement therapy—which she plans to stay on while waiting for what’s next.
“There are a number of investigational drugs underway that may further limit the progression of symptoms,” Dr. Adams said.
Tasha, keenly aware she wasn’t initially expected to make it to this point, is excited about the promised developments.
“It seems like a really weird thing to say, but this is a great time to be diagnosed with a rare disease,” she said. “There are so many people (working on) so many advancements.”
Thanks to advancements in diagnosis, Michigan added Pompe disease to the newborn screening program in 2017.
Pompe is one of about 50 disorders that can now be detected in the blood spot drawn from a simple heel stick shortly after birth.
“The goal of newborn screening for Pompe disease is to identify babies with the severe, infantile-onset form of the condition. However, we have found that we’re very good at identifying the late-onset form of the condition as well,” Dr. Adams said.
Tasha sees the effects of increased newborn screening through her participation in Facebook groups for the Pompe community.
“Because more states are approving the newborn screening, we’re getting a lot of newer parents who are coming in, and they’re like, ‘My child is diagnosed. What should I expect?’” she said.
She hopes social media will give these parents what it has provided her—a larger support group and the sense that she’s not alone.
“My greatest joy is being able to speak with people who have the same disease that I have and (sharing) how much it’s helped me grow as a person,” she said.
Determined to fight
Tasha doesn’t know what the future holds, but she plans to keep receiving biweekly infusions, attending Pompe disease conferences and advocating for a cure.
With a loving family and a rewarding career, she has a lot to fight for.
“I want to be the best mom that I can be with what I’m going up against,” she said.
Dr. Adams is impressed with Tasha’s buoyancy.
“She’s always upbeat,” she said. “This hasn’t stopped her at all.”
It’s a quality that will serve her well as this genetic journey unfolds.