Wood County family fighting to restore Pompe Disease to state's newborn screening

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MILLADORE, MADISON, Wis. (WSAW) -- When asked to step back to the moment two years ago when the Wood County family first heard of daughter Gwendolyn’s Pompe Disease diagnosis, Mike and Stephanie Clubb started to cry.

“We got a phone call…the pediatrician that was on call from Marshfield Clinic…was asking me all these questions, ‘We got the newborn testing back, your daughter has Pompe Disease.’ And I remember holding her thinking, ‘What are you talking about?’ …I thought she was crazy.”

Gwendolyn looked normal in her mother’s arms. She was eating fine. She seemed strong, healthy.

“It was a very hard time for us,” Stephanie said. “We were in a fog for probably more than six months, just trying to catch up.”

The genetic disorder, which affects just one in 40,000, has two forms—and one is deadly.

“We got Gwen baptized before we went down to Madison, because we didn’t know if we were coming back,” Mike remembered.

Pompe Disease is a rare and incurable—but treatable—genetic disorder that damages the heart and muscles, according to the National Institute of Health. Essentially, the body is unable to break down glycogen—a complex form of sugar. The disorder is categorized in two ways according to its severity, which is determined by how quickly the primary symptom, muscle weakness, begins to manifest itself.

Infantile-onset Pompe Disease sets on before a child’s first birthday, and it’s deadly if not treated quickly. The second form, late-onset, is not fatal and symptoms can present anywhere from a couple years to decades into a person’s life.

The federal National Institute of Health (NIH) funded a newborn screening pilot testing program in Wisconsin that lasted just less than two years and ended in March of this year. Out of more than 100,000 babies screened for the disease, just 12 cases were found—and none of them were the infantile, or fatal, form.

Then the funding ran out and the screening stopped—just a few months after the Clubb family had their seventh child. “We didn’t find out [that the state took it off the screening list] until we went to our genetic counselor… he said, ‘We’re fighting it, and they’re literally taking it off this month.’”

Two-year-old Gwendolyn, their sixth child, had been the first to be diagnosed with the late-onset form of the disease in Wisconsin under the pilot program. And it was because of that prognosis that they tested their other six children. Two of their sons were diagnosed with the late-onset form.

“If that wouldn’t have been for Gwendolyn and the testing from the state, we would have been totally oblivious to our other two kids having this disease.”

That’s why the Clubbs are so concerned for every parent in Wisconsin who could be a carrier and not even know it.

“We feel that the state of Wisconsin kind of took two steps backward in not immediately rolling it over into the permanent placement on the newborn screening.”

The Experts

Before going further, we’ll introduce you to the three experts we spoke to during the course of this investigation.

Dr. Gary Kirk is a chairman on one of the state committees that helps decide what diseases are put on the newborn screening list. Dr. Mei Baker is the co-director of the State Lab of Hygiene, and conducted all the Pompe Disease screenings.

And finally, there’s Dr. Priya Kishnani. She’s based at Duke University in North Carolina, and widely regarded as a world-renowned expert in Pompe Disease, and helped lead the research that discovered its only known treatment. She also leads the clinical research group that Gwendolyn participates in every few months.

Nominating a disease to the Newborn Screening Program (NSP)

The federal government recommended that states add Pompe Disease to their newborn screening programs back in 2013. But they can’t force states to do that, and only a handful of them do.

Since the pilot program ended in Wisconsin, Mike and Stephanie are working hard to nominate the disease to the permanent NSP in Wisconsin.

“We want to fight that for other parents in Wisconsin,” Stephanie explained. But after spending the last two years studying a disease they’d never heard of prior to Gwendolyn’s birth, the Clubbs explain that the next hurdle of learning “legislative speak” is one that seems impossible to surmount.

Nomination is a lengthy and difficult process designed for medical professionals, Dr. Kirk explained to us. The paperwork asks for an array of data about the disease being nominated, information that isn’t readily available to a non-medical professional. Plus, it asks for a number of co-sponsors: again, people in the medical community.

The Clubbs have reached out to several people in their medical community of support for their three children. But when 7 Investigates first reached out, almost everyone had explained that it’s a conflict of interest in some form to help out—often because they already sit on one of the committees involved in the nomination process. However, since then, the Clubb family has been allowed to waive the medical cosponsor requirement.

A disease nomination most often starts at one of eight subcommittees, Dr. Kirk explained. “They decide on the merits if they think that nomination should go forward.” It moves next to the Umbrella Committee, which he himself chairs. The chair of each subcommittee also sits on the Umbrella Committee, along with other advocates and representatives of medical organizations.

“A lot of scientific knowledge sits on that committee,” he said. They also have the power to overturn rejections from the subcommittees.

Finally, their recommendation is forwarded on to the Secretary’s Advisory Committee on Newborn Screening, populated by ethicists and other scientific experts. “They decide whether or not to ultimately issue a recommendation in favor or against, that goes to the secretary of DHS.”

The entire process is designed to be very methodical and deliberative, he explained. Family can show up to open meetings and share information and advocate for diseases of their choice. “But we also want to make sure we’re using the best scientific information to help us put the best decisions forward,” he noted.

That balance between emotion and data is where the situation for Pompe Disease gets more complex.

Ethical Considerations for Pompe Disease Nomination

If a disease doesn’t need to be treated right at birth, it doesn’t belong on the NSP. That’s the given wisdom behind the diseases on the list, both Dr. Kirk and Dr. Baker explained to us. And that’s why Pompe Disease presents a problem for the NSP. It’s deadly form has to be treated right away—but that form wasn’t found in Wisconsin during the testing period. It’s second form, late-onset, can take years before symptoms manifest, and doesn’t need treatment until doctors determine a person needs it.

Additionally, the screening at birth has no way to differentiate between the two forms. The initial test simply reveals they have it or they don’t, Dr. Baker explained—and then additional testing has to occur before they know what form.

“People may think it’s harm, like, ‘I wish I don’t know,” Dr. Baker said. Dr. Kirk also noted that some families don’t want to know of the prognosis until it becomes necessary—but that delay can also lead to misdiagnoses later in life, Dr. Baker said, resulting in delayed treatment.
“The question is, how much harm to do?” Dr. Baker explained. “I think the most challenging part is the uncertainty. You don’t know.”

Impact later in life

Doctor Priya Kishnani has made Pompe Disease the focus of her research for more than 30 years, and when we asked her if the disease should be on the NSP, she replied without hesitation, “My answer would be a firm yes.”

The reason for that is because of the damage that even the late-onset form can wreak on a person’s body before they have the chance to get it diagnosed later in life—and she’s seen the results firsthand.

“Even if they’re diagnosed, we are unable to really salvage those muscles. It’s what we call a point of no return…they can end up requiring wheelchair use,” she explained. “They also do have earlier mortality.”

She’s talked to families who had children that weren’t picked up on the newborn screening, and the treatment came too late to save some of their muscle functions.

And then, she told us this story.

“We just identified the infantile form clinically—just last week.”

North Carolina isn’t currently testing their newborns for Pompe Disease, so the family found out once the baby started signs.

“It was so sad to see that the baby was now close to six months old…and is very advanced now,” she said.

“I always remind myself. A diagnosis which is a day late, is sometimes a day too late for these children.”