How to guide doctors to take Pompe symptoms seriously
Fact-checked by Editor’s note: If you experience severe shortness of breath, sudden difficulty swallowing, chest pain, or rapidly worsening weakness, seek immediate medical attention rather than waiting for your next routine appointment. The strategies below are intended for symptoms that can be discussed during a scheduled medical visit.
It’s frustrating to leave a medical appointment feeling like your concerns were brushed aside. With Pompe disease, changes in health can signal anything from disease progression to treatment side effects or an unrelated health condition, so it’s important that you feel you can speak up when something doesn’t feel right.
While most healthcare providers want to help, busy appointments, burnout, and complex medical histories can sometimes make communication difficult.
The following strategies can help you explain Pompe symptoms to your doctor clearly, ask productive questions, and advocate for the evaluation you need.
Tracking daily physical changes
When preparing to present your concerns to doctors, whether you’re confident they’ll act on them or not, it’s important to keep a log of your symptoms.
Note the following:
- when the symptoms began
- whether you also started a medication around that time
- if you’ve noticed anything triggering the symptoms
- how they’ve evolved in feeling, intensity, and frequency over time
For people with Pompe, changes in muscle strength, endurance, breathing, swallowing, or fatigue may develop gradually, making it especially helpful to document when you first noticed a change and how it has progressed.
Your symptom log gives your doctors a clearer picture of what you’re experiencing over time. It can help them recognize recurring or worsening symptoms, and consider whether they may be linked to Pompe itself, a medication side effect, or another health condition. After all, much of a doctor’s trade is detective work. The more clues you can provide, the easier it may be for your healthcare team to connect the dots.
You might also research potential causes of your symptoms. Because Pompe is complex and any specialist’s knowledge is limited, sharing the information you’ve gathered can help guide a productive discussion. For example, you might say, “I read about a potential connection between this medication and this symptom. Could this be happening in my case?”
Respect your doctor’s expertise while also sharing the observations and research you’ve done. Your lived experience, combined with your clinician’s medical training, creates a more complete picture.
Presenting symptom history clearly to a physician
When explaining Pompe symptoms to your doctor, respectfully challenge misguided assumptions about your health and its management. You know your body better than anyone else in regard to how things feel, so if something consistently feels different from your usual baseline, it’s worth bringing up.
Don’t shy away from asking the important questions of “Why?” and “What could be causing this?” Seek clarity about why a symptom was dismissed. Be sure to emphasize the impact of the symptom on your quality of life, even if it is simply anxiety or dread caused by the mystery of it all.
Back quality of life effects with measurable descriptions. For example, instead of saying, “My legs feel weaker,” explain, “I now need to use the handrail on stairs,” or “I have to stop halfway through grocery shopping.”
If you’re nervous that you’ll immediately back down when your concern isn’t taken seriously, you might bring a family member or friend for accountability, telling that support person, “Make sure I say …”
At the end of the conversation, summarize the symptoms you discussed with your doctor, as well as any next steps, to ensure there’s no miscommunication.
Asking for specific testing
If your symptoms remain unresolved or unaddressed, consider asking whether additional testing could help explain your problems.
For example, if you suspect muscle weakness or respiratory issues, you might ask, “I’ve read that an electromyography or pulmonary function test could help clarify what’s going on. Is this something we should consider?”
If members of your healthcare team are hesitant to order a specific test, ask them to explain their reasoning. Understanding their clinical perspective — whether it’s due to insurance hurdles, lack of medical necessity, or other factors — can help you decide your next move.
When to push back or get a second opinion
Remember that you and your doctors are partners against Pompe, and healthy collaboration is necessary for boosting quality of life. Be sure to maintain a good-natured relationship with them, but balance this with listening to your body and the urgency of treating any symptoms and side effects before they become more difficult to manage.
If you experience increasing difficulty with your doctor to the point of feeling you can’t be honest or can’t expect your symptoms to be taken seriously, speak with your team’s social worker or another trusted staff member.
You want to get on the same page with your doctor so you can follow a professionally recommended plan. If you can’t align with your doctor, you might seek a second opinion by requesting a referral to a different specialist or by asking to see another doctor in the department.
These frustrations in teamwork do happen to many, and self-advocacy with a rare disease can be especially challenging due to a general lack of awareness among healthcare providers about Pompe’s complexity. But your health takes priority over any desire not to step on any toes. The goal is to ensure your concerns are fully explored and that you understand the reasoning behind the next steps.
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.
