A Life-Changing Screen: Jonah’s Story

Pompe disease, also known as glycogen storage disease type II, is a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA). This enzyme is responsible for breaking down glycogen, a stored form of sugar used for energy. Without enough GAA, glycogen builds up in the body’s cells, especially in the heart and skeletal muscles, leading to progressive muscle weakness, cardiomyopathy, and respiratory complications.

There are two primary forms:

• Infantile-onset, which appears in the first year of life and progresses rapidly.
• Late-onset, which can develop any time after infancy and progresses more slowly.

What is the Role of Newborn Screening in Pompe Disease?

Newborn screening is a standard blood test done shortly after birth to detect rare but serious health conditions like Pompe disease before symptoms appear. In Connecticut, this program is coordinated by the Connecticut Newborn Screening Network, housed within Connecticut Children’s Office for Community Child Health. 

Pompe disease was added to Connecticut’s screening panel in March 2019. Jonah’s diagnosis came just four years later, a powerful example of how newborn screening can identify rare diseases early, even in babies who seem perfectly healthy. Without this screening, families like Jonah’s might never learn about the condition until symptoms appear, often when challenges to health and development have already begun. This early detection is crucial for starting treatment promptly and improving outcomes for children with rare diseases.
 

After Jonah’s newborn screen flagged a possible neuromuscular condition, he was referred to Connecticut Children’s, where he began seeing Dr. Gyula Acsadi, a pediatric neurologist experienced in treating Pompe disease. Additional testing and the clinical course confirmed Jonah does not have the infantile form of Pompe’s disease, but he is at risk to develop a late onset form. Therefore, he needs to be monitored every 6 months at this point because effective treatment is available in the form of enzyme replacement therapy.

Though Jonah showed no symptoms at the time and remains symptom-free today, the diagnosis allowed his care team to establish a proactive monitoring plan. This preparation ensures that if symptoms emerge, treatment can begin immediately to protect his health.

Genetic testing also revealed that Jaime and Marc are both carriers of Pompe disease. Because Pompe is an inherited condition, it was important to test their daughters to better understand any potential risks. Their middle daughter June is a carrier as well, while their oldest daughter Edith, born before Pompe was included in the newborn screening panel, tested negative.

A Year of Vigilant Care

Jonah’s first year included frequent visits with Dr. Acsadi, cardiology check-ups, nutrition consultations, and regular lab work. Jaime recalls the emotional toll of waiting and hoping that symptoms wouldn’t appear.

Pompe disease can be effectively managed with enzyme replacement therapy (ERT), which works best when started early. Thanks to early diagnosis and close monitoring at Connecticut Children’s, the care team is ready to begin treatment at the first sign of any symptoms. For now, Jonah is thriving and symptom-free at 20 months, with the family confident that they have the support and knowledge needed to respond quickly if necessary.

One constant throughout their journey has been their care team at Connecticut Children’s. Jaime describes Dr. Acsadi and their neurology nurse, Nanci Stolgitis, as compassionate and thoughtful, always checking in not just on Jonah but on how the entire family is coping.

“They made us feel like we weren’t just another family,” Jaime says. “They were always so excited to see Jonah. We felt seen.”

Jonah now sees his neurologist every six months and completes bloodwork in advance of each visit. His care plan is tailored to both medical needs and what feels right for the family.
 

Looking Ahead With Gratitude

Today, Jonah is a vibrant, adventurous toddler who loves to dance, wave at everyone, and follow his big sisters everywhere. He’s joyful, social, and curious—thriving in every way.

“We are so thankful for the numerous Pompe patients and families who came before us. Without their efforts the current treatment and screening would not be available to us,” Jaime says.
 
It hasn’t always been easy. Jaime describes Jonah’s infancy and first year as a time full of unknowns, countless doctors’ appointments, emotional strain, and moments of fear. As parents, they were very fearful in the beginning. The unknown is scary. One thing that proved invaluable during that time was connecting with other families going through the same thing. Hearing their perspectives and learning from their experiences brought a sense of comfort and reassurance. Through it all, Jaime’s outlook began to shift in profound ways.

“This whole experience has been completely eye-opening to the world of rare diseases,” she says. “There have been so many new perspectives I’ve been able to take. I’ve never felt more gratitude than I do now.”

For other families navigating the complexities of a rare disease diagnosis, Jaime offers heartfelt advice:

“Give yourself grace and time to process. Connect with other families as much as possible—whether through Facebook, phone, or in person—because knowledge is power. I’m truly grateful for the knowledge newborn screening provided, giving Jonah the opportunity for an early diagnosis and the best care possible.”
 

A Comprehensive Approach to Health 

Jonah’s story is one example of how Connecticut Children’s bridges community and clinical care in a more integrated way to support families. Through the Office for Community Child Health, programs and initiatives focused on innovation, direct service, education, and research work in close partnership with clinical teams and service lines across the health system. This collaborative approach helps identify needs early, strengthens connections to care, and supports children and families not just in moments of crisis, but throughout their developmental journey.