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Fabry disease is a genetic condition that causes a narrowing of blood vessels in the body. Fabry disease leads to slowly worsening health issues and impacts the skin, nerves, kidneys, heart, and other body parts in both men and women. Fabry disease occurs when an individual has a disease-causing change or mutation in the GLA gene resulting in the body making too little of a specific enzyme called alpha-galactosidase A. If there is not enough of this enzyme, then the body is unable to breakdown certain large molecules such as globotriacylceramide (GL-3) and so they build up in the cells that form blood vessels and other parts of the body. This build up narrows the blood vessels, interferes with cell function, and causes cells to send out distress signals to the immune system.
Fabry disease health issues can start at any age but based on the timing of when symptoms begin and the combination of the medical issues it is divided into 2 types: Classic Fabry disease and non-classic or later onset Fabry disease.
If you know the family mutation of Fabry, do you then know what organs will most likely be effected?
What happens if I have an infusion-related reaction to enzyme replacement therapy for Fabry disease while at home?
How can I move to a different city and still get good Fabry care?
ThinkGenetic is a cutting edge tool empowering patients who want to know about possible genetic causes for their medical issues or obtain real-life answers to their questions about the impact of living with a genetic disease. ThinkGenetic will help you understand what questions to ask doctors in order to improve your medical care. Our goal is to help speed time to diagnosis and reduce chances of diagnostic error - two things that can make a significant difference to millions around the world.
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We've partnered with Genome Medical to provide you with access to trained and licensed genetic experts in all 50 states. These experts are ready to meet with you one-on-one and answer any questions you might have. Genome Medical is a nationwide medical practice focused on genetics and genomics. Their goal is to make it easier for people to access genetic experts and get the information they need to make informed decisions about their genetic health. To find out more about our partnership, click here. If you're located outside of the United States, click here.
Consultations are available anywhere in the U.S. by phone or video. During a consultation, the genetic counselor will answer your questions and take you through a comprehensive discussion to determine what steps and/or genetic tests would be appropriate for you. The cost of the consultation will vary, depending on whether an insurance claim is submitted for the service. You can make an appointment over the phone, or through an online process.
If you'd prefer, you can also submit questions to a Genetic Counselor by email. This service is provided by ThinkGenetic and is free.
COSTS AND INSURANCE COVERAGE: The actual consultation is provided by our partner, Genome Medical. Their genetic counselors are specially trained and licensed healthcare providers. The initial session typically lasts for 30 minutes. The consultation, as well as any related diagnostic tests and exams, may be covered services under your health insurance. Genome Medical can submit a claim to your health insurance directly, and if you choose this option, a visit fee of $50 will be charged upfront. There are also self-pay options. More details are available from Genome Medical. [https://www.genomemedical.com/advancedcare-billing/]
ThinkGenetic works with Genetic Counselors around the world to provide trustworthy information on genetic diseases and disorders. Our mission is to help guide individuals to the answers for their genetic questions and decrease the time it takes to get a diagnosis.