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

Fabry disease is a rare genetic disease that occurs as a result of a mutation in the GLA gene. This leads to a deficiency in the production of an enzyme called alpha-galactosidase A, due to the accumulation of a type of fat called globotriaosylceramide (Gb3 or GL-3) in various cells and tissues.

Fabry disease requires multiple diagnostic tests, and its symptoms involve various organs, such as the nervous system, eyes, heart, skin, digestive system, and kidneys. All these make keeping track of the disease and its treatment a complicated process. This is where a personal health record (PHR) can come in handy.

Why is a PHR needed?

A PHR can help consolidate the information you get from doctor’s visits, the results of diagnostic tests, and the progress of therapies. All this information travels along with you so that if you switch doctors or move to another place, you can easily access your medical history.

PHRs can also be very useful for caregivers and first responders while dealing with emergencies, such as a Fabry crisis.

PHRs generally are available in two formats — standard or standalone, and tethered.

What is a standard PHR?

A standard PHR is a simple collection of all the medical reports that you may have accumulated to date. A standard PHR is created by you and can be a physical file or a record stored and retrieved from a web-based service.

While a standard PHR offers you the flexibility to add information that you deem fit, it can be quite a hassle to create if you are collating reports from years ago. That being said, you are in control of whom you get to share the data with and in most cases, it costs almost nothing to create it.

What is a tethered PHR?

Unlike a standalone PHR, a tethered PHR taps into your healthcare provider’s electronic health record (EHR). Since the information in a tethered PHR is usually updated by your healthcare provider upon each visit, both you and your doctor get instant, up-to-date information about your medical history. In some cases, tethered PHRs also offer analytical tools to help you and your doctor make informed decisions about your treatment. For example, you can access graphical information like changes in your Gb3 levels over time.

Depending on time and location, your hospital may limit access to tethered PHRs. Check with your healthcare provider whether such limitations exist, and their extent. But remember that your legal medical record is protected under the Health Insurance Portability and Accountability Act Privacy Rule. This law ensures that you can view, request changes, and get copies of stored medical information as needed.

What information should go into a PHR?

A PHR, regardless of whether standalone or tethered, should contain the following information:

• Your name and complete contact details
• Contact details for your caregivers, or family and friends to contact in case of an emergency
• Details of your current health insurance plan, and the contact details of the agent or insurance provider
• The type of Fabry disease established at your diagnosis
• A description of your symptoms, age at onset, and their severity
• Information on any medications you are taking
• Information about prescribed diagnostic tests and their results
• A calendar containing information about upcoming doctor’s visits
• Information about any family history of Fabry disease and results of genetic tests
• Details of symptoms, such as sweating abnormalities and gastrointestinal problems
• Details of the steps you have taken for cardiac care
• Details of the steps you have taken for kidney care, including outcomes of dialysis or kidney transplant
• Details about personalized treatment plans, along with the progress of therapies such as enzyme replacement therapy (ERT)
• Any other information you think would be relevant, such as dietary needs

How much does it cost to maintain a PHR?

Standalone PHRs are usually free to maintain. In some cases, you may have to pay an annual fee to access a web-based service. Tethered PHRs are tied to a hospital’s EHR and may be covered in your treatment plan. Some providers may charge you to access additional information or retrieve data beyond a certain time period, so be sure to ask your healthcare provider about all applicable fees.

Last updated: Jan. 27, 2020

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Fabry 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.