Fabry disease

Healthcare/Doctors

Where is the Fabry Center in Georgia?

The Emory Fabry and Lysosomal Storage Disease Center (Emory LSDC)and Emory Genetic Clinic Trials Center (Emory GCTC) in Atlanta, Georgia provide diagnostic, evaluation, management, research, and treatment services for Fabry patients from all over the Southeastern United States. The Emory LSDC is devoted to remaining on the cutting edge of research and treatment providing comprehensive and compassionate care for all of our patients affected by Fabry disease. The Emory GCTC is dedicated to compassionately working with Fabry patients to provide access to innovative clinical studies in Fabry disease across the United States. To schedule an appointment or speak with a member of Emory Fabry team, call 404-778-8518 or 800-200-1524 or email Dawn Laney, MS at dawn.laney@emory.edu. You can also visit the Emory LSDC website or Emory GCTC for more information.

References
  • Emory Lysosomal and Peroxisomal Storage Disease Center. (n.d.). Retrieved November 22, 2019, from http://genetics.emory.edu/patient-care/lysosomal-storage-disease-center/index.html.
  • Mehta, A. (2017, January 5). Fabry Disease. Retrieved November 22, 2019, from http://www.ncbi.nlm.nih.gov/books/NBK1292/.
  • Emory Genetic Clinical Trials Center. https://med.emory.edu/departments/human-genetics/clinical-trials/index.html Accessed 12DEC19.
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Where can I find a treatment center for Fabry disease?

What other kind of specialists will I need to see with Fabry disease?

How do I talk to my doctor about home-infusion options for enzyme replacement therapy and Fabry disease?

Can I keep the same home-care nurse to provide my Fabry infusions if I switch home-care companies?

Where can I find a treatment center for Fabry disease?

Fabry disease and Lysosomal Storage Disease Centers (LSDCs) are genetic centers that specialize in the treatment of patients with Fabry disease. Most centers have a medical geneticist, genetic counselor, kidney doctor (nephrologist), heart doctor (cardiologist), and nurse who work as a team to answer your questions, discuss testing, identify your at-risk family members, and develop a comprehensive evaluation and treatment plan for you. The Fabry specialist will work with your current doctors to organize the treatment, tests, and specialists you need. There is a Fabry clinic finder at the National Fabry Disease Foundation website.

The Fabry International Network is a patient advocacy group that can help identify Fabry specialist centers to patients living outside the United States.

References
  • Mehta, A. (2017, January 5). Fabry Disease. Retrieved November 22, 2019, from http://www.ncbi.nlm.nih.gov/books/NBK1292/.
  • Lysosomal Storage Disease Websites. (n.d.). Retrieved from http://genetics.emory.edu/patient-care/lysosomal-storage-disease-center/websites.html.
What other kind of specialists will I need to see with Fabry disease?

Patients affected by Fabry disease should visit their primary care physician and Fabry doctor at least once a year for a thorough evaluation, physical exam, and laboratory tests. These tests help monitor disease progression and overall health. Many individuals affected by Fabry disease will also have a nephrologist to monitor kidney functions, a cardiologist to monitor their heart, a neurologist to monitor their brain function and pain, and a psychologist to monitor depression or anxiety. Other specialists may be needed to address gastrointestinal issues or other Fabry related symptoms. Please talk to your Fabry doctor or genetic counselor for more information about other specialists that you might need to see.

References
  • Fabry Disease: A Guide for the Newly Diagnosed. (2006, January 1). Retrieved November 22, 2019, from http://genetics.emory.edu/documents/lsdc/factsheet44.pdf.
  • Mehta, A. (2017, January 5). Fabry Disease. Retrieved November 22, 2019, from http://www.ncbi.nlm.nih.gov/books/NBK1292/.
How do I talk to my doctor about home-infusion options for enzyme replacement therapy and Fabry disease?

The following content is sponsored by Optum Specialty and Infusion Pharmacies

Individuals living with Fabry disease who are interested in moving to home infusions should talk to their doctor about their interest in receiving their enzyme replacement therapy (ERT) at home. The doctor will decide if home infusions are a good option at that time, and if not, what would be required before the patient could begin ERT infusions at home.

Doctors will consider many factors, but they'll usually make sure that at least these three things are true about the patient:

  • The patient is stable and not having active infusion-associated reactions.
  • They have a safe home environment for the nurse to do the infusions.
  • Insurance coverage for home infusion and medications through their insurance or patient-assistance program is available.

If the physician is not familiar with the process for infusing ERT for Fabry disease via home infusion, there are many resources to help them. Resources can range from a consultation with a Fabry disease specialist at an academic center to the medical team at the drug manufacturer. There are also available home infusion guides and articles provided by the manufacturer of Fabrazyme. In addition, the doctor is also welcomed to reach out to specialty pharmacy clinical teams such as the one at Optum Specialty and Infusion Pharmacies at 888.335.4279 to review their protocols and answer questions.

References
  • Smid BE, Hoogendijk SL, Wijburg FA, Hollak CE, Linthorst GE. A revised home treatment algorithm for Fabry disease: influence of antibody formation. Mol Genet Metab. 2013 Feb;108(2):132-7. doi: 10.1016/j.ymgme.2012.12.005. Epub 2012 Dec 28. PMID: 23332169 https://www.ncbi.nlm.nih.gov/pubmed/23332169
  • Kisinovsky I, Cáceres G, Coronel C, Reisin R. Home infusion program for Fabry disease: experience with agalsidase alfa in Argentina. Medicina (B Aires). 2013;73(1):31-4. http://www.medicinabuenosaires.com/PMID/23335703.pdf
  • Beck M, Gaedeke J, Martus P, Karabul N, Rolfs A. [Home-based infusion therapy--a feasible approach for chronically ill patients? A new path to provide superior patient care exemplified for Fabry's disease]. Dtsch Med Wochenschr. 2013 Nov;138(46):2345-50. doi: 10.1055/s-0033-1349624. Epub 2013 Nov 5. German. PMID: 24193859 https://www.ncbi.nlm.nih.gov/pubmed/24193859
  • Sanofi-Genzyme, Fabrazyme® (agalsidase beta) Home Infusion Therapy: Risk Minimisation Information for Patients Manual for Patients with Fabry Disease who Receive Home Infusion of Fabrazyme. Version No. 1.3 (UK): March 2018. https://www.medicines.org.uk/emc/rmm/290/Document
  • Milligan A, Hughes D, Goodwin S, Richfield L, Mehta A. Intravenous enzyme replacement therapy: better in home or hospital? Br J Nurs. 2006 Mar 23-Apr 12;15(6):330-3. PMID: 16628169 https://www.ncbi.nlm.nih.gov/pubmed/16628169?report=abstract
Can I keep the same home-care nurse to provide my Fabry infusions if I switch home-care companies?

The following content is sponsored by Optum Specialty and Infusion Pharmacies

When patients living with Fabry disease find a nurse who is excellent at providing their home infusions, it can be very frustrating when insurance or life events require a change in nursing services. Don't despair! In many cases, home-health nurses often work with more than one home-health company. Talk to the new home-health company and the nurse to see what options you have.

For example, Optum Specialty and Infusion Pharmacies works closely with many qualified contractors and nursing agencies around the United States and, in many cases, they can train and certify preferred nurses to provide infusion services for the home infusion therapy. For questions, the patient or nurse can call the Diplomat Clinical Team at 888.335.4279.

References
  • Sanofi-Genzyme, Fabrazyme® (agalsidase beta) Home Infusion Therapy: Risk Minimisation Information for Patients Manual for Patients with Fabry Disease who Receive Home Infusion of Fabrazyme. Version No. 1.3 (UK): March 2018. https://www.medicines.org.uk/emc/rmm/290/Document
  • Smid BE, Hoogendijk SL, Wijburg FA, Hollak CE, Linthorst GE. A revised home treatment algorithm for Fabry disease: influence of antibody formation. Mol Genet Metab. 2013 Feb;108(2):132-7. doi: 10.1016/j.ymgme.2012.12.005. Epub 2012 Dec 28. PMID: 23332169 https://www.ncbi.nlm.nih.gov/pubmed/23332169
  • Milligan A, Hughes D, Goodwin S, Richfield L, Mehta A. Intravenous enzyme replacement therapy: better in home or hospital? Br J Nurs. 2006 Mar 23-Apr 12;15(6):330-3. PMID: 16628169 https://www.ncbi.nlm.nih.gov/pubmed/16628169?report=abstract

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