Help advance the understanding of Fabry disease. Be your advocate.
CareConnectPSS® Personalized Support Services
CareConnect Personalized Support Services is a Sanofi-sponsored support program for people with lysosomal storage disorders (LSDs) and their families. We offer personalized disease education, information about treatment options, and resources that can help you with access to treatment.
Backed by more than 40 years in rare disease healthcare, your dedicated CareConnect team is by your side with services tailored specifically and uniquely to you.
CareConnectPSS Patient Education Liaisons (PELs)
Patient Education Liaisons (PELs) have clinical backgrounds in nursing or genetic counseling. PELs are regionally based and available to provide in-person disease and treatment education. They can also help you understand how the disease may be passed on in families and complete a medical family tree by request.
CareConnectPSS Case Managers
Case Managers have deep experience in the healthcare system and are ready to work closely with you and your family to provide care coordination. They also have experience with health insurance and navigating the healthcare system. They can assist with how to handle out-of-pocket costs or can help you understand your options if you are without insurance.
Resources
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See how the Hills have rallied together to face Fabry as a family, as our knowledge of the disease has evolved.
Four generations of females with Fabry
Life with Fabry disease: Then and now
Navigating a diagnosis together
See how the Hills have rallied together to face Fabry as a family, as our knowledge of the disease has evolved.
Four generations of females with Fabry
Life with Fabry disease: Then and now
Navigating a diagnosis together
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There is a lot to learn about Fabry disease. We offer a number of free brochures on a variety of topics that may be of interest to you. If you are interested in Spanish-language materials, please contact CareConnectPSS to be connected with a Spanish-speaking PEL.
eGFR Tool
Testing Options for Fabry Disease
Medical Family Tree Worksheet
Understanding Fabry Disease: The Importance of Health Management
Fabry Recommended Schedule of Assessments & Health Tracker
The ‘Focus on your Self-Care’ Series:
Introduction to the ‘Focus on your Self-Care’ Series
Self-Care Assessment
Reflection Sheet
The 5-2-21 Method
There is a lot to learn about Fabry disease. We offer a number of free brochures on a variety of topics that may be of interest to you. If you are interested in Spanish-language materials, please contact CareConnectPSS to be connected with a Spanish-speaking PEL.
eGFR Tool
Testing Options for Fabry Disease
Medical Family Tree Worksheet
Understanding Fabry Disease: The Importance of Health Management
Fabry Recommended Schedule of Assessments & Health Tracker
The ‘Focus on your Self-Care’ Series:
Introduction to the ‘Focus on your Self-Care’ Series
Self-Care Assessment
Reflection Sheet
The 5-2-21 Method
Frequently Asked Questions
Fabry disease is an inherited disorder. It is one of a family of hereditary diseases called lysosomal storage disorders that affect the way certain chemicals are processed in the body. Fabry is caused by an altered gene. A person who inherits this gene is unable to produce an enzyme commonly known as Alpha-GAL in amounts needed to do the job it is supposed to do. Alpha-GAL is one of several enzymes present in compartments in our cells called lysosomes. The enzyme’s job is to break down a certain fatty substance, called globotriaosylceramide, or GL-3. Since a person with Fabry disease does not produce enough alpha-GAL, the GL-3 is not broken down, but instead builds up in the cells over time.
To learn more, watch the video
Fabry disease is found in roughly 1 in 40,000 to 117,000 people. Fabry disease can be hard to diagnose. However, Fabry disease can occur at an average of 100-1000 times more often in dialysis populations. Additionally, since Fabry disease is genetic, if one family member has been diagnosed, other family members could be at risk.
Most of the symptoms of Fabry disease can be attributed to GL-3 accumulation and the resulting damage to body tissues. Some symptoms that may occur throughout life include episodic pain crises, inability to sweat, recurrent fever, gastrointestinal distress, and heat or cold intolerance. More severe symptoms may arise as the disease progresses silently in the body. Learn more about Fabry disease symptoms
Yes. Fabry disease was once thought to affect only males. Females were previously told they were only "carriers," meaning they carried the gene for the disorder without developing symptoms. We now know this is not true. Research has shown that females with Fabry disease do, in fact, experience a wide range of significant symptoms. It is important for females with a family history of this progressive, potentially life-threatening disease to be monitored regularly and to speak to their doctor about appropriate medical care. Learn more>
Due to the way Fabry disease is inherited, symptoms vary more in women than they do in men. Most men with Fabry disease will experience the full range of symptoms. Symptoms in women can be highly variable, even within the same family. Women with the disease may experience symptoms as severely as men, they may have milder symptoms, or they may have severe symptoms in some organs but not others. Learn more about Fabry disease in women
Some females who have the altered gene will develop symptoms, while others will not. Each cell in a female's body contains two X chromosomes, but one is inactive or "turned off" through a normal process called X-inactivation. This process occurs randomly in cells while a baby is developing in the womb.
Each organ in a female's body has its own X-inactivation pattern. In a female who has the altered gene, one organ may have 60% of her healthy X chromosomes working, while another organ may have only 30% working. A female's specific X-inactivation pattern can cause her to have some symptoms of Fabry disease, but not others. It can also explain the variation of symptoms. Learn how Fabry disease is inherited
Neuropathic pain (burning, tingling pain that mainly effects the hands and feet) is the most common symptom of Fabry disease and is often the first symptom that brings children and adolescents to their pediatricians. Children and teens may also experience recurrent fever, heat and cold intolerance, gastrointestinal problems, corneal opacities, and a skin condition (angiokeratomas). See more Fabry disease symptoms in children and teens
Fabry disease can affect people from any ethnic group. If a person is diagnosed with Fabry disease, they may have inherited it from one of their parents. That is why it is important to develop a Medical Family Tree. Learn more about how Fabry disease is inherited
As many people with Fabry disease know, doctors don't always suspect this diagnosis right away because the disease is so uncommon. With just a few exceptions (such as the pattern on the eye and the skin condition), the signs and symptoms are much like other more common conditions. If you have symptoms of Fabry disease, your doctor can help you decide whether to get tested. Your family history may play a role in this decision. Once a person is suspected to have Fabry disease based on symptoms or medical history, there is a test to confirm it, which measures the level of the alpha-GAL enzyme. Learn more >
In a male, if the alpha-GAL enzyme assay (another word for "test") shows low enzyme activity, then he has Fabry disease. However, a female can have low or near-normal alpha-GAL enzyme levels, so a DNA test should be conducted. Learn more about the test>
Sanofi Genzyme is committed to helping meet the needs of people who are living with Fabry disease. As part of this commitment, we provide services for those who have Fabry disease and their families. From providing disease education to helping patients create a Medical Family Tree to navigating insurance issues, we are here to help. Learn more about CareConnectPSS Support Services >
There are also online resources available to help.
Support networks
As awareness of Fabry disease grows, so does the number of groups and websites that support the Fabry community and others living with genetic disorders. Here are some organizations that offer support and information to people living with Fabry disease and their caregivers.
This listing is provided as a resource only and does not constitute an endorsement by Sanofi of any particular organization or its programming. Additional resources on this topic may be available and should be investigated. Sanofi does not review or control the content of non-Sanofi websites.
American Kidney Fund
A non-profit organization that provides comprehensive programs of kidney health awareness, education and prevention.
Fabry Disease Information
A Sanofi-sponsored website with extensive information on Fabry disease.
Fabry Support & Information Group (FSIG)
A nonprofit organization dedicated to raising awareness and providing support to you and caregivers of patients with Fabry disease.
Fabry Registry
Information for patients and practitioners on this Sanofi-sponsored patient registry.
Genetic Alliance
The world’s leading nonprofit health advocacy organization committed to transforming health through genetics.
National Fabry Disease Foundation
The NFDF supports the Fabry community through education, assistance, identification, research, and advocacy.
National Kidney Fund
A nonprofit that is a lifeline for all people affected by kidney disease with an emphasis on enhancing lives through action, education and accelerating change.
National Organization for Rare Disorders (NORD)
NORD is a nonprofit federation of health organizations dedicated to helping people with rare “orphan” diseases and assisting the organization.
National Society of Genetic Counselors (NSGC)
An organization that will help you find a genetic counselor who is in your area or available by phone.
A NOTE TO MY FAMILY
Hello,
Recently, I learned some important news about my health. I'm writing to share it with you because it could also affect you, or other members of our family.
I have been diagnosed with a condition called Fabry disease. Fabry disease is a genetic condition that affects a small number of people, so you or your doctor may not have heard of it. Fabry disease runs in families related by blood, so you, too, may have inherited it.
People affected by Fabry disease can experience symptoms differently, even people within the same family. Some people may look and feel healthy and have very few symptoms. Others may have fatigue, inability to sweat, pain in hands and feet, or stomach pain and diarrhea. Fabry disease gets worse over time and could lead to medical issues such as heart failure, kidney failure, and stroke.
- Men have a 50% chance of inheriting Fabry disease from an affected mother, and
will never inherit the gene from an affected father - Women will always inherit Fabry disease from an affected father, have a 50% chance of getting the altered gene from an affected mother
A simple blood or saliva test can be used to confirm whether you inherited this condition. To learn more about Fabry disease or testing options, you can visit www.fabrycommunity.com and connect with a Sanofi Genzyme Patient Education Liaison. The sooner you know if you have Fabry disease, the sooner your doctor can begin helping you!
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