What to Do After a Pompe Disease Diagnosis
Pompe disease is a rare genetic disorder that affects both children and adults.
It is important to understand the next steps after a Pompe disease diagnosis to prepare you and your family for the treatment journey.
A Pompe disease diagnosis is followed by decisions about care and disease management, which also means considerations around finances and planning for medical care in the years to come.
Pompe disease is a rare, inherited condition that can present itself at different ages. It affects about
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
A sugar called glycogen builds up in the body. People with Pompe disease have a deficiency of the acid alfa glucosidase, or GAA, which breaks down sugars.
One of the main symptoms of Pompe disease is weakness in the muscles.
Symptoms can appear as early as birth or as late as adulthood. The earlier the disease is started, the faster it progresses.
The most severe form of Pompe disease usually occurs within the first 3 months after birth. It can include heart problems. If left unaddressed, Pompe disease can have a life expectancy of less than 2 years.
Pompe disease begins in childhood, adolescence, or adulthood. These can lead to walking disability or breathing difficulties.
Pompe disease symptoms include:
- Mobility problems.
- It is difficult to stand after sitting or climbing stairs.
- Weak facial muscles can cause problems eating and breathing.
- There are muscle pains and cramps.
- There are headaches.
“Pompe disease can be difficult to diagnose. Many physicians don’t have a lot of experience treating rare disorders, so you may be referred to a specialist.”
A clinical evaluation, a detailed patient and family history, and a combination of biochemical tests are used to diagnose the disease. If you are pregnant or at risk for passing down Pompe disease, you can be tested.
Pompe disease treatment requires a team of specialists to help manage different aspects. A multidisciplinary team will address issues related to Pompe disease.
“Pompe disease treatment is patient-centered, meaning it will depend on the person’s symptoms or disease progression. The treatment plan will be created by specialists based on information from patients.”
There are a number of treatments that can be used to treat Pompe disease.
Enzyme replacement therapy
The treatment of the enzymes is an IV procedure.
Children with weak facial muscles may benefit from respiratory therapy.
Strengthening respiratory muscles can be accomplished through physical therapy.
Speech therapy is an option for those with Pompe disease.
A dietician is used by some caregivers to ensure proper nutrition and weight gain. A specialized diet for youth who need specific food textures can help lower the risk of aspiration.
You can expect to see your team of medical professionals frequently. This will require careful planning and upkeep.
Pompe disease will need frequent infusions of the enzymes to replace those lost by the deficiency.
It is important to consider all aspects of a treatment plan when you are a family member or friend of a Pompe disease patient. Speech, mobility, diet, and mental and emotional concerns should be addressed in treatment decisions.
If Pompe disease progresses, people may need specialized diet.
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
ERT can improve quality of life and increase life expectancy, even though no cure exists for Pompe disease.
Treatments that address breathing difficulties, trouble swallowing, and physical issues are also necessary. Sometimes a feeding tube is used to treat a disease. Sometimes soft or pureed foods are introduced before a feeding tube.
Pompe disease is a rare condition that requires regular treatment and medical expenses can be very expensive.
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. It is important to understand your health insurance plan so that you can make an informed decision. You can ask for referrals from your doctor.
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.
Hospitals can help connect you to support groups, which may be helpful for patients with Pompe disease.
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.”
Mental health should be prioritized by caregivers. It can be difficult to care for a child with Pompe disease. It will take a lot of time, work, and dedication.
It is difficult to care for someone else if you are not caring for yourself first.
It is possible to navigate a Pompe disease diagnosis. It is important to educate yourself on the disease, no matter what you are told.
You will want to find medical experts who can help you plan a course of treatment and help you make lifestyle changes after a Pompe disease diagnosis.