Patient-reported outcome surveys, such as the SF-36, include additional ways for you to get your patients talking.
Rethink FabryTM resources
Starting a conversation with your patients
It may be difficult for patients to articulate their symptoms for a variety of reasons. They may be feeling fine at the time of the appointment, they may be unsure of what to bring up, or they may even have accepted that what they’re feeling is “normal.”
These tips may help your patients tell you what’s going on:
Ask your patients to keep a journal recording how they feel in between visits.
This may help them remember things to bring up during their appointments.
Ask questions that may help them remember how Fabry may limit their physical health.
- Does your health limit you in any of your normal activities, including:
- Participating in sports or other vigorous activities
- Moving a table or other moderate activities
- Lifting or carrying groceries
- Climbing one or several flights of stair
- Walking a mile, several blocks, or one block?
Ask questions that may help them remember how Fabry impacts their emotional health.
- Have you had any problems with your work because of your physical or emotional health?
- Do you feel tired?
- Have you been happy lately?
Ask questions about how their treatment impacts their life.
- How is your treatment going?
- Are you having any trouble getting to your appointments?
about the use of patient-reported outcome surveys in Fabry
to review a list of frequently asked questions your patients may have
Initiation of ERT: guidelines from an international panel of Fabry experts1
It’s important to start ERT, the standard of care in Fabry disease, as early as possible.2 However, the potential for a lengthy time to diagnosis can delay treatment. Diagnosis can take up to 30 years for some patients, meaning Gb3 deposits causing irreversible organ damage could have been accumulating in the body for years.2,3
Once a conclusive diagnosis has been made, you can begin to discuss ERT with your patients and initiate treatment to prevent ongoing organ damage.2
Subpopulation Guidelines for starting ERT1
At time of development of significant symptoms or, if asymptomatic, consider at 7-10 years of age
At time of diagnosis of Fabry disease
At time of development of symptoms or evidence of progression of organ involvement
ERT, enzyme replacement therapy; Gb3, globotriaosylceramide; SF-36, 36-Item Short Form Health Survey.
ERT, a lifelong treatment, begins with a conversation at diagnosis. Going forward, we can rethink Fabry together.
Hear from your colleagues: healthcare experts discuss key topics in Fabry
SIGN UP FOR UPDATES FROM RETHINK FABRY
References: 1. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30. doi:10.1186/1750-1172-5-30. 2. Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138(4):338-346. doi:10.7326/0003-4819-138-4-200302180-00014. 3. Reisin R, Perrin A, García-Pavía P. Time delays in the diagnosis and treatment of Fabry disease. Int J Clin Pract. 2017;71:(1). doi: 10.1111/ijcp.12914.