What Is Pompe Disease?

Pompe Disease is a rare genetic disorder caused by a deficiency or complete absence of the enzyme acid alpha-glucosidase (GAA), also called acid maltase. This enzyme normally breaks down glycogen (a stored form of sugar) inside lysosomes in muscle cells. Without sufficient GAA enzyme, glycogen accumulates to toxic levels throughout the body, particularly in the heart muscle, skeletal muscles, and respiratory muscles. The progressive glycogen buildup causes muscle cells to malfunction and eventually die, leading to severe muscle weakness and other complications. The disease is inherited in an autosomal recessive pattern.

Bottom Line

Pompe Disease is a progressive muscle disorder with two distinct forms determined by age of onset and severity. Infantile-onset Pompe presents in the first months of life with severe heart and muscle involvement. Late-onset Pompe can appear anytime from early childhood to late adulthood, primarily affecting skeletal and respiratory muscles. Enzyme replacement therapy has transformed outcomes for both forms but does not constitute a cure.

“The distinction between infantile-onset and late-onset Pompe Disease is critical for life insurance. Infantile-onset, despite improvements with ERT, remains a severe life-limiting condition. Late-onset Pompe presents a spectrum from slowly progressive to more aggressive disease. Some late-onset patients with good treatment response and preserved function can qualify for traditional coverage, while others face decline.”

– InsuranceBrokers USA – Management Team

Bottom Line

Age of symptom onset is the primary factor distinguishing Pompe forms and determining life insurance options. Infantile-onset Pompe, despite treatment advances, remains incompatible with traditional life insurance due to severe cardiac and respiratory complications. Late-onset Pompe offers potential for traditional coverage depending on disease severity, functional status, and treatment response. The spectrum of late-onset disease is wide, requiring individual case assessment.

Excellent News for Carriers

Individuals who carry one copy of the Pompe Disease gene mutation are completely healthy and asymptomatic. Carrier status does not need to be disclosed to life insurance companies and does not affect your ability to obtain coverage at standard rates. Life insurers are concerned with diseases that affect your health and longevity – being a carrier for Pompe Disease does neither.

Important Distinction

There is a critical difference between:

• Being a Carrier: One mutated gene, no disease, completely healthy, no insurance impact
• Having Pompe Disease: Two mutated genes, disease present, significant insurance challenges
• At-Risk Without Testing: Unknown carrier status, no current health effects, standard insurance available

Bottom Line

If you are a carrier of the Pompe Disease gene, you should have no difficulty obtaining life insurance at standard rates. Carrier status is a genetic finding, not a medical condition, and does not affect your health or longevity. Focus on finding competitive rates just as any healthy applicant would.

The Difficult Reality

Infantile-onset Pompe Disease presents in the first few months of life with severe cardiomyopathy (enlarged heart), profound muscle weakness, feeding difficulties, and respiratory problems. Before enzyme replacement therapy became available in 2006, most affected infants died by age one or two. While ERT has improved survival significantly, infantile-onset Pompe remains a life-limiting condition with cardiac and respiratory complications. Traditional life insurance companies will decline applications due to the serious prognosis. Only guaranteed issue policies providing limited final expense coverage are available.

Bottom Line

For children with infantile-onset Pompe Disease, guaranteed issue policies provide limited but important coverage for final expenses. While ERT has dramatically improved survival compared to the pre-treatment era, the serious cardiac and respiratory complications make traditional life insurance impossible. Families should focus on guaranteed issue options and explore comprehensive government assistance programs and disease-specific support resources.

A More Variable Picture

Late-onset Pompe Disease can appear anytime from early childhood to the sixth decade of life or beyond. Unlike the infantile form, late-onset Pompe does not typically involve significant heart disease. Instead, it causes progressive skeletal muscle weakness, particularly affecting the legs, trunk, and respiratory muscles. Disease severity varies enormously – some patients experience slowly progressive weakness over decades, while others decline more rapidly. Some late-onset patients with mild symptoms and good treatment response may qualify for traditional life insurance, typically with premium increases. Coverage depends heavily on functional status, respiratory function, and mobility.

“Late-onset Pompe patients face an uphill battle for traditional life insurance, but it’s not impossible. The key is demonstrating preserved function, good respiratory capacity, and slow disease progression. A 40-year-old who walks independently, works full-time, and has stable respiratory function may qualify with significant premium increases. Someone wheelchair-bound or requiring ventilatory support will likely need to pursue guaranteed issue coverage.”

– InsuranceBrokers USA – Management Team

Bottom Line

Late-onset Pompe Disease patients with mild symptoms should attempt traditional, fully underwritten life insurance. Provide comprehensive documentation, including pulmonary function tests, neurologist reports, functional assessments, and evidence of slow progression. Those with more advanced disease requiring mobility aids or respiratory support should focus on guaranteed issue policies. Working with a broker experienced in complex medical underwriting significantly improves approval chances.

Enzyme Replacement Therapy Revolution

Enzyme replacement therapy (ERT) for Pompe Disease became FDA-approved in 2006 with alglucosidase alfa (marketed as Myozyme for late-onset and Lumizyme). A newer formulation, avalglucosidase alfa (Nexviazyme), was approved in 2021. ERT involves intravenous infusions every two weeks and works by providing the missing GAA enzyme. While not a cure, ERT has transformed Pompe from a universally fatal condition to a chronic, manageable disease for many patients. For life insurance underwriting, treatment response is absolutely critical – patients who stabilize or improve on ERT have much better approval prospects than those who continue to decline despite treatment.

• Treatment Records: ERT type, dosage, frequency, duration, compliance history
• Pulmonary Function Tests: Serial FVC measurements showing stability or improvement
• Functional Assessments: Six-minute walk test results over time
• Strength Testing: Manual muscle testing scores documenting progression
• Mobility Status: Independent ambulation vs. assistive device use
• CPK Levels: Creatine phosphokinase trends on treatment
• Specialist Letters: From a neuromuscular specialist documenting treatment response
• Respiratory Support: Any BiPAP, CPAP, or ventilator use

Timing Your Application

For newly diagnosed late-onset Pompe patients starting ERT:

• Wait at least 18-24 months after starting treatment before applying
• Allows sufficient time to demonstrate treatment response
• Shows stabilization or improvement in key metrics
• Establishes a pattern of treatment compliance
• Provides serial pulmonary function tests for comparison
• Results in better underwriting outcomes and potentially lower ratings

Bottom Line

For late-onset Pompe Disease, ERT response is the single most important underwriting factor. Patients who show stabilization or improvement on treatment have realistic chances of obtaining traditional coverage, while those who decline despite ERT face almost certain decline from traditional insurers. Comprehensive documentation showing sustained functional preservation over 18-24 months dramatically strengthens applications. Early treatment initiation before significant muscle damage has occurred produces the best outcomes both medically and for insurance purposes.

Parents Are Not Penalized

Parents of a child with Pompe Disease should not face difficulties obtaining their own life insurance. While both parents are necessarily carriers of the Pompe gene, carrier status does not affect personal health or life expectancy. Life insurance companies evaluate the applicant’s own health, not their children’s medical conditions. Parents should be able to secure standard rates for their own coverage.

Important Considerations for Families

• Parent Life Insurance: Critical to have adequate coverage on parents to support the family
• Sibling Testing: Siblings should consider carrier screening before having their own children
• Financial Planning: ERT costs are enormous, even with insurance coverage
• Disability Income: Consider disability insurance to protect family income
• Long-Term Care: May be needed for progressive late-onset cases
• Estate Planning: Important for families with affected individuals requiring ongoing care

Bottom Line

Parents and siblings of individuals with Pompe Disease should face no barriers to obtaining life insurance at standard rates. The focus should be on protecting the family’s financial security through adequate life insurance coverage on working adults. The high cost of ERT treatment and potential need for long-term care make comprehensive financial planning essential for affected families.

“The life insurance landscape for Pompe Disease is challenging but not impossible for some late-onset patients. The key is honest self-assessment of your functional status and disease severity. If you’re walking independently, working, and have good respiratory function on stable ERT, traditional coverage is worth pursuing despite expected premium increases. If you’re using a wheelchair or need ventilatory support, save yourself the frustration and focus on guaranteed issue products that will actually approve you.”

– InsuranceBrokers USA – Management Team

Bottom Line

Application strategy depends entirely on your specific Pompe form and functional status. Carriers should apply normally with confidence. Infantile-onset cases require focusing on guaranteed issue options exclusively. Late-onset patients must honestly assess their functional limitations – those with mild disease should pursue traditional coverage with comprehensive documentation, while those with advanced disease should focus on guaranteed issue policies. Timing, documentation quality, and professional guidance are critical success factors.