Tips for Maintaining a Personal Health Record When You Have Pompe Disease

Vaidyanathan Subramaniam avatar

by Vaidyanathan Subramaniam |

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Pompe disease is a rare inherited disorder in which mutations in the GAA gene lead to a deficiency in the enzyme alpha-glucosidase. This causes an abnormal buildup of a type of sugar called glycogen in the cells and tissues of the body.

A personal health record (PHR) can help you organize information and track the progress of your disease efficiently. This article introduces you to a PHR and details some of the benefits of maintaining it.

Why is a PHR needed?

Diagnosing Pompe disease usually requires multiple tests. The disease manifests in several types, with each type having its own symptoms. A variety of treatment options are available to manage these symptoms. All of this makes keeping a tab on disease progress complicated. This is where a PHR comes in handy.

Having a PHR means that all aspects of disease diagnosis and treatment are available in a consolidated form that is easily accessible and travels with you. A PHR also contains vital information that can be a useful reference for caregivers and doctors for making crucial decisions during the course of treatment.

What are the kinds of PHRs available?

Generally, PHRs are available in two kinds: standard, or standalone, and tethered, or patient portals. Standard PHRs are made and curated by the patient while tethered PHRs are usually linked to a healthcare provider’s secure online portal. The term tethered is often used interchangeably with the term “patient portal.”

What is a standard PHR?

If you have been collecting all your medical reports over time, you already have a standard PHR. These reports include notes from doctor’s visits, results of diagnostic tests, treatment modalities, and more. Note that it is important to have this information well-organized.

If you are just starting to collate all this information, however, creating a standard PHR can be quite time-consuming. That being said, you are in control of what information goes into a standard PHR and what others get to see. There also is the option of web-based services that allow you to upload these reports and access them from all your devices.

What is a tethered PHR?

Your hospital or healthcare provider will often maintain an electronic health record (EHR) for you, which is updated during every visit. A tethered PHR can connect to this EHR and retrieve information. The advantage of using a tethered PHR is that you and your doctor both can get instant access to your up-to-date medical history. Depending on your healthcare provider’s system, a tethered PHR also may offer additional analytical tools, such as plotting trends in alpha-glucosidase enzyme activity over time, for example.

Tethered PHRs offer an easy way to keep track of your medical history, but their access can be limited based on your healthcare provider’s policies. Check with your healthcare provider about such limitations. That being said, remember that a patient’s legal medical record is protected under the Health Insurance Portability and Accountability Act Privacy Rule, known as HIPPA, meaning that you always have the right to view, request changes to, and get copies of your stored medical information, whenever it’s needed.

What information should go into a PHR?

When creating any PHR, regardless of whether it is standard or tethered, make sure it contains the following information:

  • Your name and complete contact details
  • The contact details of your caregivers or family and friends, or whomever you wish to be contacted in case of an emergency
  • Details of your current health insurance plan, and the contact details of the agent or insurance provider
  • A description of your symptoms, your age at onset, and their severity
  • A calendar containing information about upcoming doctor’s visits
  • Information about prescribed diagnostic tests and their results
  • The type of Pompe disease you have
  • Information about dietary restrictions, if any
  • Information about heart health and steps taken to reduce cardiac symptoms and breathing problems
  • Details of ongoing therapies such as enzyme replacement therapy and its outcomes so far
  • Any other relevant information

Should I pay to maintain a PHR?

For the most part, a standard PHR that you maintain yourself should be free or inexpensive. However, if you opt for web services, you may be required to pay a one-time or annually recurring access fee.

Costs of accessing tethered PHRs connected to a hospital’s EHR may be covered in your treatment plan. Some healthcare providers may charge for accessing additional information or for retrieving data beyond a certain time period, so make sure to check with your provider.


Last updated: Jan. 24, 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.