About Us
It all started with the birth of our first born, George Douglas Gillson, who entered the world on August 1st, 2023. Born a little early at 36 weeks after 40 hours of labor via C-section, he spent one week in the NICU. During this time, we received concerning news that George's newborn screening indicated markers for Pompe disease, a rare genetic disorder. Unfortunately, the doctors had limited knowledge about this condition, so we were referred to Masonic Children's Hospital in downtown Minneapolis. There, we faced a long day of appointments with a dedicated team that included genetics specialists, primary doctors, a neurologist, a cardiologist, a physical therapist, and a pulmonologist. They conducted various screening assessments to rule out any immediate threats to his lungs, heart, and other muscles. Fortunately, George received a clean bill of health, leaving us more hopeful and relieved than when we arrived. The doctors were incredible in explaining Pompe disease to us, especially since both Josh and I (Jessica) are carriers of the genes linked to this condition, which can manifest in both Late Onset and Early Onset forms. After a year of evaluations, George was officially diagnosed with Late Onset Pompe disease. Currently, he is not receiving treatment as it's crucial to wait until symptoms or blood work markers become active to avoid the risk of the body developing immunity to the treatment. The standard treatment for Pompe disease involves Enzyme Replacement Therapy (ERT), administered through infusions weekly or biweekly. Once treatment begins, it is a lifelong commitment—or until a cure is discovered. Our journey continues as we seek to support children with rare diseases like George's.
What is Pompe Disease?
Pompe disease is a rare genetic disorder that primarily affects muscles due to a deficiency in the enzyme acid alpha-glucosidase (GAA). This enzyme deficiency hinders the breakdown of glycogen, a stored form of sugar, resulting in its accumulation in cells and causing progressive muscle weakness. There are two main forms of Pompe disease: infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD), which vary in severity and age of onset.
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.
Two Main Forms:
Infantile-onset Pompe disease (IOPD): Symptoms appear shortly after birth, with severe muscle weakness affecting the heart (cardiomyopathy) and respiratory muscles.
Late-onset Pompe disease (LOPD): Symptoms manifest later, in childhood or adulthood, and progress more slowly, primarily impacting the trunk, girdle muscles, and diaphragm.
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
Rare diseases affect a small percentage of the population, but collectively impact millions worldwide. These conditions are often genetic disorders, with 8 in 10 cases linked to gene mutations. For instance, Pompe disease, a specific type of genetic disorder, exemplifies the challenges faced in diagnosis and treatment. Diagnosis can be particularly challenging, taking an average of over 6 years, and many rare diseases lack approved treatments, including effective enzyme replacement therapy. Here's a more detailed breakdown:
Prevalence and Impact:
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.
