About Us
It all started with the birth of our first born, George Douglas Gillson. George was born on August 1st, 2023. His birth into this world was a little early at 36 weeks and took 40 hours, but he arrived via C Section. He spent one week in the NICU. During this time, we received the news that George's newborn screening came back with markers for a rare disease called Pompe disease. The doctors could not tell us anything as they didn't have a lot of knowledge of the disease. We were sent straight to Masonic Children's Hospital in downtown Minneapolis. During our long full day of appointments we met with the genetics team, specialist primary doctors, neurologist, cardiologist, physical therapist, and pulmonologist. They ran various screening assessments to rule out any immediate threats to his lungs, heart, and other muscles. Luckily he came out with a pretty clean bill of health and we left a lot more hopeful and relieved than when we arrived. His doctors were amazing in describing Pompe disease to us. Josh and myself (Jessica) are both carriers for Pompe disease. We both carry a different gene that is present in both the Late Onset form and Early Onset form of Pompe disease. After the first year of appointments, George was officially diagnosed with Late Onset Pompe disease. He is not currently getting treatment for his disease as it's important not to start treatment until symptoms or blood work markers are active. This helps prevent the body from becoming immune to the treatment. Treatment for Pompe disease consists of Enzyme Replacement Therapy or ERT. Enzyme Replacement Therapy is given through an infusion that individuals receive weekly or biweekly. Once treatments starts it continues for duration of ones life OR until we find a cure.
What is Pompe Disease?
Pompe disease is a rare, inherited disorder that primarily affects muscles due to a deficiency in the enzyme acid alpha-glucosidase (GAA). This enzyme deficiency prevents the breakdown of glycogen, a stored form of sugar, leading to its buildup in cells and causing progressive muscle weakness. There are two main forms: infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD), with varying 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:A deficiency in the GAA enzyme is the root cause, preventing proper glycogen breakdown.
- Two Main Forms:
- Infantile-onset Pompe disease (IOPD): Symptoms appear shortly after birth, with severe muscle weakness, including the heart (cardiomyopathy) and respiratory muscles.
- Late-onset Pompe disease (LOPD): Symptoms appear later, in childhood or adulthood, and progress more slowly, primarily affecting the trunk, girdle muscles, and diaphragm.
- Symptoms: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: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's not a cure.
- Prognosis:Without treatment, IOPD can be fatal, often before the age of one. LOPD has 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.
Other Rare Diseases
Rare diseases affect a small percentage of the population, but collectively impact millions worldwide. They are often genetic, with 8 in 10 being linked to gene mutations. Diagnosis can be challenging, taking an average of 6+ years, and many lack approved treatments. 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, 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.
- 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.
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 been a Chief Development Officer for the past 15 years for 2 nonprofit organizations. Prior to entering the nonprofit world, he spent over 15 years as a Staff Accountant including 10 years as an Auditor. Jason has a Master of Arts degree in Organizational Management from Concordia University in St. Paul, MN. He also has his own
Jason has been a Chief Development Officer for the past 15 years for 2 nonprofit organizations. Prior to entering the nonprofit world, he spent over 15 years as a Staff Accountant including 10 years as an Auditor. Jason has a Master of Arts degree in Organizational Management from Concordia University in St. Paul, MN. He also has his own nonprofit TVF, that specializes in coaching other non profits in research and grant writing.
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 at the age of three and has been receiving biweekly enzyme replacement infusions ever since. Motivated by their families journey, Meg and her family successfully advocated for Pompe disea
Meg Haberman is a hospital pharmacist, passionate advocate, and devoted mother to a rare disease warrior. Her son Issac was diagnosed with Pompe disease at the age of three and has been receiving biweekly enzyme replacement infusions ever since. Motivated by their families 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 through Georges Pompe Pals.
Scotti Wolf
Brittany Debeltz
Brittany Debeltz
Scotti Wolf is a long time family friend. She is currently and has been working in the financial field as a financial analyst amongst other financial sectors. Scotty enjoys reading and is what she calls a book nerd. Scotti Wolf is from Minnesota, but is currently living in Texas with her husband Jed to remain closer to family.
Brittany Debeltz
Brittany Debeltz
Brittany Debeltz
Dr. Brittany Debeltz, APRN, DNP, is the owner and practitioner of Bridge to Health. Brittany is a Family Nurse Practitioner, certified nationally through the American Association of Nurse Practitioners and licensed in Minnesota. She graduated from the College of Saint Scholastica in 2011 with a Bachelors of Science Degree in nursing. She
Dr. Brittany Debeltz, APRN, DNP, is the owner and practitioner of Bridge to Health. Brittany is a Family Nurse Practitioner, certified nationally through the American Association of Nurse Practitioners and licensed in Minnesota. She graduated from the College of Saint Scholastica in 2011 with a Bachelors of Science Degree in nursing. She graduated from a Family Nurse Practitioner program through Minnesota State University and became a certified Family Nurse Practitioner in 2017.
Brittany decided to continue her education to achieve a lifelong goal of a receiving a Doctorate in Nursing Practice, which she received in July of 2019 through Minnesota State University Mankato. Britany has roots in the area, as her family lives in various towns across the Iron Range. She and her family live in Cook, where they enjoy outdoor activities such as hunting, fishing, and gardening. When Brittany isn’t providing patient care, you can find her spending time with her family! She also enjoys health and fitness and tries to promote healthy lifestyles in others.
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