Living with Late-Onset Pompe Disease

Late-onset Pompe disease (LOPD) is extremely variable in the age that the symptoms first become evident, the severity of the symptoms, and the rate at which the disease progresses or gets worse. The common thread throughout all cases of Pompe is that the disease is progressive; it will continue to get worse over time.

These 3 patient quotes highlight the different experiences people with Pompe disease can have.

Three patient quotes are presented. They read: 1) “I can still play golf…I walk into a physician’s office and someone else comes in a wheelchair…we have the same disease, 2) my hips would give way, and it was like falling down in slow motion. There was no way I could stop myself, and 3) I was told I was the healthiest-looking sick person my doctors had ever seen.

Three patient quotes are presented. They read: 1) “I can still play golf…I walk into a physician’s office and someone else comes in a wheelchair…we have the same disease, 2) my hips would give way, and it was like falling down in slow motion. There was no way I could stop myself, and 3) I was told I was the healthiest-looking sick person my doctors had ever seen.

Three patient quotes are presented. They read: 1) “I can still play golf…I walk into a physician’s office and someone else comes in a wheelchair…we have the same disease, 2) my hips would give way, and it was like falling down in slow motion. There was no way I could stop myself, and 3) I was told I was the healthiest-looking sick person my doctors had ever seen.

A large challenge we all face in any situation is admitting we need help and asking for it. This is true for many people with chronic conditions as they navigate failing health or declining physical ability. Seeking the advice and support of other people with LOPD may help. You should not feel bad or embarrassed about it; we all need some extra help from time to time.

However, people with Pompe do not need to give up their independence or their participation in the activities that they enjoy. Instead, they may just need to learn new strategies and approaches to adapt to their situation.

This section offers practical tips for patients living with LOPD and their families. Some tips may be useful now; others may be more useful as the disease, and physical limitations, progresses. Each patient is different, with different needs, and the progressive nature of the disease means that these needs will evolve over time. Having an open mind, a positive attitude, and the support of family, friends, and a good medical care team will help the patient with LOPD meet these challenges head on.

The most common symptom of LOPD is muscle weakness, and as the disease progresses, patients may find carrying out daily activities that were once routine more difficult. Limitations in actions such as walking, climbing stairs, and lifting can make daily activities more challenging and time consuming, but that does not mean that a person should stop participating in activities that they enjoy. It is important, however, that they talk with their doctor about appropriate activities they can engage in. The following tips may help with making these activities more manageable.

  • Adjusting their routine to accommodate any extra time needed to perform these activities; for example, preparing meals or clothing the night before to make the morning routine less stressful
  • Considering special equipment that may be needed to help make these tasks easier; this is called “assistive technology”
  • Adjusting their work situation if working becomes difficult
  • Engaging in light exercise, which is considered beneficial for patients with LOPD who are able. Patients need to be kind to themselves and respect their body’s limitations
  • Patients should discuss exercise and their limitations with a doctor
  • Overexertion and fatigue should be avoided
  • Excessive resistance during exercise should be avoided
  • Patients should rest when necessary
  • Maintaining interests, hobbies, and social activities

The challenges of Pompe disease affect not just people with Pompe but their family members as well. In general, as a person’s needs increase, the time required for assistance by a family member or caregiver increases as well. Some people often prefer, if possible, a family member to care for them. Likewise, family members often derive satisfaction by caring for their family members, and, on average, would be unhappy with someone else taking over the care of their loved one.

If someone is taking care of a loved one with Pompe disease, they should remember to take care of themselves too. Caregiving can be draining both physically and mentally (Fig. 1), and family members should take time out for themselves to recharge, so they can be at their best to be able to assist their loved one. Reaching out to other family members and friends can also help.

Results from a questionnaire given to 67 caregivers of patients with Pompe disease (73% of patients older than 18 years) from a Netherlands Medical Center. The results show that about 50% reported mental health problems, about 50% reported problems with daily activities, about 40% reported physical health problems, and the average well-being score was 7.2 on a scale from 0 being completely unhappy and 10 being completely happy. Finally, it is reported that informal caregivers spend an average of 17.7 hours a week on home care for a patient with Pompe disease.

If a loved one needs around-the-clock care, caregivers need to be realistic about how much they can handle. Some people may need specialized medical care that is beyond the capacity of the family member’s abilities. Acknowledging that it is in the person’s best interest to get outside help from a healthcare professional, when a family member or caregiver can no longer provide adequate care themselves, is important. Accepting the help of nurses, home health aides, and other professional caregivers may be difficult, but in many cases, it can be the best option for a person with Pompe.

Reaching out for emotional support is also important. Patient organizations can connect families so that they may share experiences and practical advice that may be beneficial for both patients and caregivers alike.

Learn More About the Pompe Registry

If a diagnosis is eventually confirmed, consider the Pompe Registry . Registries have proven to be especially valuable in gathering information and contributing to scientific publications for rare diseases like Pompe disease.

The Pompe Registry is sponsored by Sanofi Genzyme. Information submitted to the Pompe Registry will be maintained as confidential.