What to Do After a Pompe Disease Diagnosis

Pompe disease is a rare, inherited condition that can present itself at different ages. It affects about 1 in 40,000 people in the United States.

There are three types of Pompe disease:

• Classic infantile-onset: appears within a few months of birth
• Non-class infantile-onset: appears around 1 year of age
• Late-onset: appears later in life, into the teen or adult years

In this genetic disorder, a complex sugar called glycogen builds up within the body. People with Pompe disease have a deficiency of the enzyme acid alfa glucosidase, or GAA, which breaks down complex sugars like glycogen.

This deficiency causes skeletal muscle weakness, one of the main symptoms of Pompe disease.

Symptoms can occur as early as birth or appear in late adulthood. Earlier onset often results in faster progression and greater severity of the disease.

The most severe form of Pompe disease usually occurs within the first 3 months after birth. It can include heart problems due to heart enlargement. If left untreated, infantile Pompe disease has a life expectancy of under 2 years.

Less severe forms of Pompe disease begin in childhood, adolescence, or adulthood. These rarely create heart problems, but often lead to walking disability or difficulties breathing.

Symptoms of late-onset Pompe disease include:

• mobility problems
• difficulty standing after sitting or climbing stairs
• weakened facial muscles, which can lead to problems eating and breathing
• muscle aches and cramps
• fatigue
• headaches

Pompe disease can sometimes be difficult to diagnose. As a rare disorder, many physicians may not have a lot of experience treating the disease, and you may be referred to a specialist.

The disease is generally diagnosed through a clinical evaluation, a detailed patient and family history, and a combination of biochemical tests. If you’re pregnant or at risk for passing down Pompe disease, you can also be tested for it.

Pompe disease treatment typically requires a team of specialists to help manage different aspects of care. For late-onset Pompe disease, a multidisciplinary team will address pulmonary, neuromuscular, orthopedic, and gastrointestinal issues related to the condition.

Treatment for Pompe disease is generally patient-centered, meaning it will depend on the person’s symptoms or disease progression. Specialists will create a treatment plan based on information from patients or caregivers.

There are a number of possible treatments to help manage Pompe disease.

Enzyme replacement therapy

Enzyme replacement therapy is an intravenous treatment where enzymes are given to patients.

Respiratory therapy

Respiratory therapy or assistance may be given to pediatric patients who have trouble breathing due to weak facial muscles.

Physical therapy

Weakened respiratory muscles may be strengthened through various physical therapy exercises, including walking and strengthening respiratory muscles.

Speech therapy

Speech therapy is another supportive therapy option for those whose speech has been impacted by Pompe disease.

Diet analysis

Some caregivers enlist the help of a dietician to ensure proper nutrition and weight gain. Dietitians can also help create specialized diets for youth who need specific food textures to help lower the risk of aspiration (getting food into the lungs).

Since Pompe disease requires a team of specialists, you can expect frequent appointments with your team of medical professionals. This will require careful upkeep, planning, and scheduling.

Pompe disease is a lifelong condition that will likely need frequent infusions of enzymes to replace those lost by the deficiency.

If you’re a caregiver helping a loved one or a child manage Pompe disease care, it’s important to consider all aspects of a treatment plan. From speech to mobility to diet, decisions around treatment should address physical, mental, and emotional concerns.

For example, people with Pompe disease may need specialized diets if the disease progresses.

A high protein diet is often recommended to help build muscle mass and reduce glycogen buildup. Working with a dietician can help ensure youth diagnosed with the disease are eating safely and receiving enough nutrients.

Infantile Pompe disease management

Classic infantile-onset Pompe disease typically begins with enzyme replacement therapy (ERT) as soon as a diagnosis is made. In ERT, the infant is regularly treated with an artificial copy of the acid alpha-glucosidase enzyme.

One study showed that babies treated with ERT before 6 months had higher survival rates as well as the ability to breathe without a ventilator. The 2017 study also found that ERT treatment led to better heart health and improved learning of motor skills.

While ERT isn’t a cure for Pompe disease — no cure currently exists — it can improve quality of life and increase life expectancy.

In addition to ERT therapy, treatments that address breathing difficulties, trouble swallowing, and physical issues are usually also necessary. Sometimes a feeding tube is a part of treating infantile Pompe disease, an effort to ensure proper nutrition. Sometimes, soft or pureed foods are introduced before resorting to a feeding tube.

Since Pompe disease is a rare condition that requires regular treatment and a team of specialists, medical expenses can be very costly.

One review of studies found that infantile-onset Pompe disease cost just over $41,000 for supportive therapy alone, without treatment, over the course of less than half a year.

Treatment, on the other hand, can cost up to $379,000 per year. Early diagnosis is essential to prevent or reduce the irreversible organ damage associated with the disease’s progression.

Health insurance can help alleviate these costs. It’s important to fully understand your health insurance plan to know what’s covered, what’s not, and which physicians are in your network. You can also ask for referrals from your pediatrician.

A number of funds and copay relief programs are also available to help pay for healthcare for people diagnosed with Pompe disease. You can find more information on funds like The Assistance Fund or Patient Advocate Foundation Co-Pay Relief online. In addition, there are several organizations that provide financial assistance for medical costs related to rare diseases. The Patient Advocate Foundation (PAF), for example, helps with care access, co-pay assistance, and insurance appeals.

Local hospitals can also help connect you to support groups, which may be helpful for both pediatric patients with Pompe disease and their caregivers.

Support groups like Pompe Alliance help foster connection, build community, and provide education on the disease. Pompe Warrior Foundation is another educational organization with a mission to “promote research, educate, and empower individuals and families affected by Pompe Disease and other rare diseases.”

Caregivers should also prioritize their own mental health. Caring for a pediatric patient with Pompe disease can be a difficult process, both physically and mentally. It will require a lot of time, work, and dedication.

Making your mental health a priority can help you be a more successful caregiver — after all, it’s difficult to care for someone else if you’re not caring for yourself first.

Successfully navigating a Pompe disease diagnosis is possible with careful planning and research. It’s important to educate yourself on the disease, whether you’re diagnosed or caring for someone who is.

After a Pompe disease diagnosis has been made, you’ll want to find medical experts who can help you plan a course of treatment and assist you in making necessary lifestyle changes.