Planning for the Future if Your Family Is Affected by Pompe Disease

Mary Chapman avatar

by Mary Chapman |

Share this article:

Share article via email
planning needs

Receiving a Pompe disease diagnosis for you or your child can come as quite a shock. But now that you know, you may want to start planning for the future.

Types of Pompe disease

There are three main types of Pompe disease, each with different ages of onset and severity. They are classic infantile-onset Pompe disease, non-classic infantile-onset Pompe, and late-onset Pompe disease. Disease types are partly associated with variants, or alleles, of the mutated GAA gene.

How will the disease affect our child’s future?

In classic infantile-onset Pompe — the disease’s most severe form — symptoms commonly begin at around 4 months of age. Without treatment, affected babies often succumb to cardiomyopathy or heart disease within their first year of life.

In non-classic infantile-onset Pompe disease, symptoms usually arise in infancy, but typically later in the first year. In this type, the heart may be enlarged, but there is less cardiomyopathy, and the condition causes more significant breathing problems. These children may live to early childhood.

It is important to note that enzyme replacement therapies (ERTs), such as Lumizyme (alglucosidase alfa; known as Myozyme in Europe) by Sanofi Genzyme, are approved to treat infantile-onset as well as late-onset Pompe, and can prolong life in young patients.

ERT use has been found to “substantially” improve outcomes in infantile-onset disease. But it is not a cure or a disease modifier, and its effectiveness can vary widely among these patients.

What decisions must we make?

The process of making decisions for an infant or child with a terminal illness can be overwhelming for many parents. It’s important to ask questions, delegate responsibilities to other family members when you can, and if possible and appropriate, discuss the decisions with your child. Remember, you don’t have to make all decisions at once. Decisions likely to arise can pertain to the right to refuse treatment or resuscitation, and palliative and hospice care.

What is my future with late-onset Pompe?

Late-onset Pompe disease affects around two-thirds of patients. It may begin anytime from late childhood to adolescence, or even in adulthood. Researchers estimate life expectancy to be around age 30 when the disease first appears in children or teenagers and age 50 when it manifests in adults.

As muscle weakness slowly progresses, it can affect facial muscles, muscles supporting the spine and those that are important for breathing and eating. Spinal muscular weakness may lead to scoliosis, or an abnormal curvature of the spine, especially in adolescents. It is not uncommon for patients to experience muscle aches and cramps, as well as headaches and fatigue.

While yours is a chronic, and currently incurable disorder, adjustments can help with the quality of your life. In addition to lifelong injections of ERT, you may also need to see various specialists to help manage your symptoms. Frequent healthcare visits can affect patients’ work and social life. Planning schedules in advance while taking into consideration the possible need for urgent medical care can help in balancing healthcare visits and other facets of your daily life.

Adaptive equipment can help in overcoming some of the physical challenges this disease causes. You may also need to make household modifications and may need assistive listening and communicative devices to help with hearing or speech problems. Because weakened muscles can make eating difficult, you may eventually need foods that are easier to chew and swallow.

Obtaining counseling, educating family members and friends about your condition, and joining support networks can help you deal better with emotional hurdles associated with changes that occur in your ability to move around.


Last updated: Sept. 15, 2020


Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.