What happens after a diagnosis of Pompe disease

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Pompe disease is a rare genetic disease that affects both children and adults.

Understanding the next steps following a diagnosis of Pompe disease is important to help prepare you and your loved ones for the treatment journey.

A diagnosis of Pompe disease is followed by decisions about the care and management of the disease, which also means considerations about finances and planning for medical care in the years to come.

Pompe disease is a rare hereditary disease that can present at different ages. It affects approximately 1 in 40,000 people in the USA.

There are three types of Pompe disease:

  • Classic infant onset: appears a few months after birth
  • Out-of-class infant start: appears around 1 year
  • Late onset: appears later in life, in adolescence or adulthood

In this genetic disease, a complex sugar called glycogen builds up in the body. People with Pompe disease have a deficiency in 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 from birth or appear in late adulthood. Earlier onset often results in faster progression and greater disease severity.

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

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

Symptoms of late-onset Pompe disease include:

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

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

The disease is usually diagnosed by clinical evaluation, a detailed patient and family history, and a combination of biochemical tests. If you are pregnant or at risk of transmitting Pompe disease, you can also be tested.

The treatment of Pompe disease usually 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 disease.

Treatment for Pompe disease is usually patient-centred, which means it will depend on the person’s symptoms or the progression of the disease. Specialists will create a treatment plan based on patient or caregiver information.

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 support may be given to pediatric patients who have difficulty breathing due to weak facial muscles.

physical therapy

Weakened respiratory muscles can be strengthened through various physiotherapy exercises, including walking and strengthening the respiratory muscles.

Speech therapy

Speech therapy is another supportive therapy option for people whose speech has been affected by Pompe disease.

Diet analysis

Some caregivers seek the help of a dietitian to ensure proper nutrition and weight gain. Dietitians can also help create specialized diets for young people who need specific food textures to help reduce 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 healthcare professionals. This will require careful maintenance, planning and scheduling.

Pompe disease is a lifelong condition that will likely require frequent infusions of enzymes to replace those lost through deficiency.

If you are a caregiver helping a loved one or child manage Pompe disease care, it is important to consider all aspects of a treatment plan. From speech to mobility to diet, treatment decisions must consider 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 dietitian can help ensure young people diagnosed with the disease are eating safely and getting enough nutrients.

Management of infantile Pompe disease

Classic, childhood-onset Pompe disease usually 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 enzyme acid alpha-glucosidase.

A 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 study 2017 also found that ERT treatment resulted in better heart health and motor skill learning.

Although ERT is not 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, swallowing problems, and physical issues are usually also needed. Sometimes a feeding tube is part of treatment for infantile Pompe disease, an effort to ensure adequate nutrition. Sometimes soft or pureed foods are introduced before resorting to a feeding tube.

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

A study review found that childhood-onset Pompe disease cost just over $41,000 for supportive therapy alone, without treatment, over a period of less than six months.

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

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

A number of copayment relief funds and programs are also available to help pay for health care for people diagnosed with Pompe disease. You can find more information about funds such as The Assistance Fund or Patient Advocate Foundation Co-Pay Relief online. In addition, several organizations offer financial assistance for medical expenses related to rare diseases. The Patient Advocate Foundation (PAF), for example, helps with access to care, co-payment assistance, and insurance appeals.

Local hospitals can also help connect you to support groups, which can 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 about the disease. The Pompe Warrior Foundation is another educational organization whose mission is 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 challenging process, both physically and mentally. It will take 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 hard to take care of someone else if you don’t take care of yourself first.

It is possible to successfully navigate a diagnosis of Pompe disease with careful planning and research. It is important to educate yourself about the disease, whether you are diagnosed or caring for someone who is.

Once you’ve been diagnosed with Pompe disease, you’ll want to find medical experts who can help you plan treatment and help you make the necessary lifestyle changes.

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