(Editor’s note: The following is the first of a two-part series about the Joost family of Sherwood. Amanda and Ross Joost have been working to raise awareness about Pompe Disease, a rare disorder which their son, Marshall, was diagnosed with following newborn screening. The family started a non-profit organization, Marshall’s Mountain, to raise funds for research of the disorder. September is Newborn Screening Awareness Month).
SHERWOOD — Ross and Amanda Joost of Sherwood couldn’t have been happier following the birth of their third child, Marshall, in December of last year. A few days later, however, they received a pair of phone calls that completely changed their lives.
The first call came from their pediatrician, who told them that through Marshall’s newborn blood screening test, he had shown an elevated risk for Glycogen Storage Disease Type II, more commonly known as the rare disorder Pompe Disease, which affects only one in 40,000 people in the United States.
The second call came soon after from a genetics nurse in Toledo, who told the Joosts that Marshall needed to be in Toledo the next day for cardiac testing because his heart might be damaged.
“You can imagine how overwhelming that was for us,” said Amanda, about the calls four days after Marshall’s birth. “We immediately went to Google and started looking up data about Pompe Disease. We found out later that you should never Google it because not only is the information overwhelming, but much of it is outdated.
“Much of the information about the disease refers to it without treatment, but now there is a treatment, but no cure as of yet,” added Amanda.
According to information from rarediseases.org: “Pompe Disease is a single disease continuum with variable rates of disease progression and different ages of onset. First symptoms can occur at any age from birth to late adulthood. Earlier onset compared to later onset is usually associated with more rapid progression and greater disease severity.
“At all ages, skeletal muscle weakness and wasting causing mobility problems, but also affecting respiratory function, characterizes the disease. The most severely affected infants usually present within the first three months after birth. They have characteristic cardiac problems (dysfunction due to cardiac enlargement), in addition to generalized skeletal muscle weakness and a life expectancy of less than two years, if untreated (classic infantile Pompe Disease).
“Less severe forms of Pompe Disease with onset during childhood, adolescence or adulthood, rarely manifest cardiac problems, but gradually lead to walking disability and reduced respiratory function. In essence, Pompe Disease is a rare multi-system disorder caused by pathogenic variations in the GAA gene containing the information for production and function of a protein called acid alpha-glucosidase (GAA).
“Because of the shortage of this protein (an enzyme) a complex sugar named ‘glycogen’ cannot be degraded to a simple sugar like glucose. This causes the glycogen to accumulate in all kinds of tissues, but primarily in skeletal muscle, smooth muscle and cardiac muscle, where it causes damage to tissue structure and function. Pompe Disease is inherited as an autosomal recessive genetic trait.”
After undergoing tests, initially Marshall was thought to only be a carrier, but his EKG (electrocardiogram) showed abnormalities, and his blood work showed elevated levels of Creatine Kinase (CK), an enzyme found in the heart, brain, skeletal muscle and other tissues. Increased amounts of CK are released into the blood when there is muscle damage.
Following a tele-health conference with a genetics specialist at Cincinnati’s Children’s Hospital, it was determined that Marshall has late onset Pompe Disease, with possible early presentation. He presented with skeletal muscle weakness, and his CK enzymes and liver enzymes continued to elevate.
“What we figured out about Pompe Disease is that there are puzzle pieces between knowing what the skeletal muscle weakness could possibly be, and a piece of the puzzle on the CK enzymes from the lab results,” said Ross. “Duke University (which is on the cutting edge of Pompe Disease research), developed a test, which is another piece of the puzzle, called Urine Hex4, which helps track the progression of the disease.
“Newborn screening is really the foundation of all of this,” added Ross. “Previously, there were people who wandered through decades with problems from this disease, but couldn’t find the right diagnosis and got progressively worse. For the past seven years the screening has been available, and it can lead to help for many children if they get screened for it. Years and years ago there wasn’t a test, but going forward, that mistake doesn’t have to be made.”
Said Amanda: “In Marshall’s case, he started enzyme replacement therapy (ERT) in his second month of life and his enzyme levels have now normalized. He receives synthetic enzymes to replace what his body doesn’t make. He showed muscle weakness, especially head control early on, but because of ERT, the progression of muscle damage is under control. He is now ahead of most milestones for his age and he’s very strong, which is just so wonderful.”
Learning about Pompe Disease turned out to be the first step for the Joosts. Amanda, who is an assistant clinical professor at Bowling Green State University and a medical laboratory scientist at Mercy Health, went to work with the help of Ross to raise awareness about the disorder, and to raise money for research locally and nationally.