About Us
It all began with the sweetest miracle — the birth of our firstborn, George Douglas Gillson, on August 1st, 2023.
He arrived a little early at 36 weeks, after 40 long hours of labor and a C-section. Our tiny fighter spent his first week in the NICU, where we anxiously watched over him, holding onto faith and love. It was during that fragile time that we received news no parent is ever prepared for — George’s newborn screening showed markers for Pompe disease, a rare genetic disorder. The doctors who cared for us had limited experience with this condition, so we were referred to Masonic Children’s Hospital in Minneapolis for more specialized care. There, we met an incredible team — genetics specialists, primary doctors, a neurologist, a cardiologist, a physical therapist, and a pulmonologist. It was a long day filled with tests, questions, and quiet prayers. They checked his heart, lungs, and muscles to make sure he was stable. By the end of the day, George was given a clean bill of health — and for the first time in weeks, we felt hope again. Over time, we learned more about this condition. Both Josh and I (Jessica) are carriers of the gene that causes Pompe disease, which can appear in either Early Onset or Late Onset forms. After a year of evaluations, George was officially diagnosed with Late Onset Pompe disease. Right now, he doesn’t need treatment — and that’s a blessing. The doctors closely monitor him, waiting until symptoms or blood markers indicate it’s time to begin Enzyme Replacement Therapy (ERT). Once started, this treatment is lifelong — a reminder of both the challenges and the resilience that come with rare diseases. This journey has changed our lives forever. It has opened our eyes to the strength of children like George and the need for awareness, advocacy, and support for families affected by rare diseases. Through George’s Pompe Pals, we hope to turn our love for him into action — ensuring that children with rare conditions continue to thrive, dream, and live life to the fullest.
What is Pompe Disease?
Pompe disease is a rare genetic disorder that affects the body’s ability to break down glycogen — a form of stored sugar our muscles use for energy. When the enzyme needed to do this (called acid alpha-glucosidase) is missing or doesn’t work properly, glycogen builds up in the muscles, leading to weakness that can affect the heart, lungs, and movement.
There are two main forms of Pompe disease:
🍼 Infantile-Onset, which appears in babies and can affect the heart and breathing early on.
👶 Late-Onset, which may appear in childhood or adulthood, often leading to progressive muscle weakness over time.
While there is no cure yet, there is hope. 💪
Treatment with enzyme replacement therapy (ERT) can help manage symptoms and improve quality of life. And thanks to early newborn screenings, more children are being diagnosed and supported sooner than ever before.
At George’s Pompe Pals, we believe in raising awareness, supporting families, and ensuring that every child — no matter how rare their condition — has the chance to live a full, joyful life.
Key Facts:
Inheritance: Pompe disease is inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene for their child to be affected.
Enzyme Deficiency: The deficiency in the GAA enzyme is the root cause of Pompe disease, preventing proper glycogen breakdown.
Symptoms: The symptoms of Pompe disease vary based on the form, but can include muscle weakness, poor muscle tone (hypotonia), enlarged liver (hepatomegaly), feeding difficulties, respiratory issues, and heart problems (cardiomyopathy in IOPD).
Diagnosis: Diagnosis can be confirmed through a blood test measuring GAA enzyme activity and genetic testing for GAA gene mutations.
Treatment: Enzyme replacement therapy (ERT) is available and can significantly improve the lives of those with Pompe disease, though it is not a cure.
Prognosis: Without treatment, IOPD can be fatal, often before the age of one. LOPD presents a more varied prognosis, depending on the age of onset and disease progression.
Prevalence: Approximately 1 in 40,000 people in the U.S. have Pompe disease.
Research: Ongoing research is exploring new therapies, including gene therapy, to support children with rare diseases like Pompe.
Other Rare Diseases
What is a rare disease?
In the United States, a rare disease is defined as one that affects fewer than 200,000 people. While each condition is rare on its own, together they impact over 30 million Americans — and about half are children.
Prevalence: A disease is generally considered rare if it affects fewer than 200,000 people in the United States, or fewer than 1 in 2,000 people in the European Union.
Global Impact: While individually rare, these diseases collectively affect a substantial number of people. In the US, about 25 million people live with a rare disease. Globally, that number is estimated to be closer to 300 million, according to Rare Disease Day.
Childhood Onset: A significant proportion of rare diseases, approximately 70%, begin in childhood, underscoring the need to support children with rare diseases.
Genetic Basis: The vast majority, around 80%, of rare diseases are caused by genetic mutations.
Diagnosis and Treatment:
Diagnostic Challenges: Misdiagnosis and delayed diagnosis are common due to the rarity of these conditions and the limited availability of specialized knowledge.
Treatment Gaps: A significant number, around 95%, of rare diseases lack an approved treatment, highlighting the urgent need for advancements in therapies like enzyme replacement therapy.
Other Key Facts:
Diverse Symptoms: Rare diseases can manifest with a wide range of symptoms, and these symptoms can vary even among individuals with the same condition.
Economic Burden: Delayed diagnosis can lead to significant avoidable costs, potentially exceeding $500,000 per patient.
Need for Research: There is a critical need for increased research into rare diseases to improve diagnosis, develop effective treatments, and enhance the quality of life for those affected.
Our Board Members
Jason Skoog
Brittany Debeltz
Meg Haberman
Jason has served as a Chief Development Officer for the past 15 years at two nonprofit organizations, where he has focused on initiatives that support children with rare diseases, including those affected by Pompe disease, a genetic disorder. Before transitioning into the nonprofit sector, he accumulated over 15 years of experience as a S
Jason has served as a Chief Development Officer for the past 15 years at two nonprofit organizations, where he has focused on initiatives that support children with rare diseases, including those affected by Pompe disease, a genetic disorder. Before transitioning into the nonprofit sector, he accumulated over 15 years of experience as a Staff Accountant, including a decade spent as an Auditor. Jason holds a Master of Arts degree in Organizational Management from Concordia University in St. Paul, MN. Additionally, he founded his own nonprofit, TVF, which specializes in coaching other nonprofits in research and grant writing, particularly in areas related to enzyme replacement therapy for rare diseases.
Meg Haberman
Brittany Debeltz
Meg Haberman
Meg Haberman is a hospital pharmacist, passionate advocate, and devoted mother to a rare disease warrior. Her son Issac was diagnosed with Pompe disease, a genetic disorder, at the age of three and has been receiving biweekly enzyme replacement therapy ever since. Motivated by their family's journey, Meg and her family successfully advoca
Meg Haberman is a hospital pharmacist, passionate advocate, and devoted mother to a rare disease warrior. Her son Issac was diagnosed with Pompe disease, a genetic disorder, at the age of three and has been receiving biweekly enzyme replacement therapy ever since. Motivated by their family's journey, Meg and her family successfully advocated for Pompe disease to be added to the newborn screening panel in their home state of South Dakota. She is looking forward to serving others in the rare disease community and to support children with rare diseases through Georges Pompe Pals.
Scotti Wolf
Brittany Debeltz
Brittany Debeltz
Scotti Wolf is an accounting and finance professional who also owns a small business. With 16 years of experience in accounting and administration across multiple industries, she currently serves as the senior accountant at SmartDraw Software. Scotti holds a Bachelor's degree in Business Accounting from WGU and graduated from Sam Houston
Scotti Wolf is an accounting and finance professional who also owns a small business. With 16 years of experience in accounting and administration across multiple industries, she currently serves as the senior accountant at SmartDraw Software. Scotti holds a Bachelor's degree in Business Accounting from WGU and graduated from Sam Houston State University with a Bachelor's in History. In her free time, she is a professional reader and book reviewer. Passionate about supporting children with rare diseases, she is particularly interested in enzyme replacement therapy for conditions like Pompe disease. Additionally, Scotti enjoys spending time outdoors, gaming, and visiting museums.
Brittany Debeltz
Brittany Debeltz
Brittany Debeltz
Dr. Brittany Debeltz, APRN, DNP, is the owner and practitioner of Bridge to Health. As a Family Nurse Practitioner certified nationally through the American Association of Nurse Practitioners and licensed in Minnesota, Brittany is dedicated to providing care for patients, including those affected by rare diseases such as Pompe disease. Sh
Dr. Brittany Debeltz, APRN, DNP, is the owner and practitioner of Bridge to Health. As a Family Nurse Practitioner certified nationally through the American Association of Nurse Practitioners and licensed in Minnesota, Brittany is dedicated to providing care for patients, including those affected by rare diseases such as Pompe disease. She graduated from the College of Saint Scholastica in 2011 with a Bachelor of Science Degree in nursing and completed her Family Nurse Practitioner program at Minnesota State University, becoming a certified Family Nurse Practitioner in 2017. Brittany pursued further education to achieve her lifelong goal of earning a Doctorate in Nursing Practice, which she accomplished in July of 2019 through Minnesota State University Mankato. With roots in the area, her family resides in various towns across the Iron Range, while she and her family live in Cook, where they enjoy outdoor activities like hunting, fishing, and gardening. When not providing patient care, Brittany focuses on supporting children with rare diseases and promoting health and fitness, encouraging healthy lifestyles in others.
Help Our Mission
Your tax deductible donation will enable us to support children with rare diseases, including those affected by Pompe disease, and help fund our mission to provide essential enzyme replacement therapy for genetic disorders.
