Living with Fabry Disease

If you have Fabry disease, you know it can be a challenge. Sometimes, it helps to know that you are not alone. Here are some perspectives from others who live with the disease:

"When I was diagnosed with Fabry disease, I was glad to finally find out what I had. When I was young, I could never play sports and I could never run. So when I found out, it was a relief to understand why."

"Having Fabry disease has brought our family closer in many ways. We talk about the treatment. We help educate each other. We share experiences and that helps us deal with it."

"We first found out that we had Fabry disease in our family when my mother-in-law went in to see the eye doctor. Two of her sons had kidney failure and we didn't know why. The eye doctor saw the whorling pattern in her eyes and said, ‘I think I know what caused your sons' kidney failure.' The family was tested and we found that, yes, we had Fabry disease in our family."

"Telling teachers and coaches that my son has Fabry disease is a challenge. I think they want to sympathize but may not know how because they've never heard about it before. I tell them what to look for. He might get a headache and he overheats fast. Make sure he has water. I do that with everybody - the coaches, the teachers, everybody. "

"My wife didn't know about Fabry disease. She didn't always realize how much pain I was going through. A lot of our social activities got interrupted because I couldn't do something. We worked through it, but it was plenty hard. I know it was hard on her, too, seeing what I was going through."

"Advocating for oneself is not easy when it comes to Fabry. I have had to talk to many others who don't know about it. Like my softball coach. When we'd get out in the heat, he'd be saying, ‘run laps'. And I'm doing what I can, but I'm overheating because I'm not sweating very much, and my hands and feet are on fire. And he just could not understand that at all. I hated it. But you do what you can to get your point across. And if they don't believe you, you just move on."

"When I was a teenager, I knew that I could pass Fabry disease on if I had children, but I thought the only symptoms I would experience were that my hands and feet would hurt when I got a fever, along those lines. But women can have more than just the mild symptoms. When my mother passed away, she'd had a stroke. She had some kidney failure, she had multiple heart problems."

"A lot of information on Fabry disease says girls are just carriers, they will not have the disease. And here I have my daughter with raging fevers, burning hands and feet, not being able to move for four or five days, missing school. It took a long time to find someone who would listen, and it was very frustrating. Her gym teacher thought she was just lazy, you know, and she's passing out from heat exhaustion."

These patients and others have shared their experiences with Sanofi Genzyme for one compelling reason: To reach out and make a difference in the lives of others living with Fabry disease.

Indication and Usage

Fabrazyme® (agalsidase beta) is used to treat patients with Fabry disease. Fabrazyme lowers the amount of a substance called globotriaosylceramide (GL-3), which builds up in cells lining the blood vessels of the kidney and certain other cells. The lowering of GL-3 suggests that Fabrazyme may improve how Fabry disease affects your body; however a relationship of lower GL-3 to specific signs and symptoms of Fabry disease has not been proven.

Important Safety Information

Life-threatening severe allergic (anaphylactic) reactions have been seen in patients during Fabrazyme infusions. Approximately 1% of patients who have received Fabrazyme either during a clinical study or after Fabrazyme was approved have experienced anaphylactic or severe allergic reactions during their infusion. These reactions have included: localized swelling of the face, mouth and throat, narrowing of breathing airways, low blood pressure, hives, difficulty swallowing, rash, trouble breathing, flushing, chest discomfort, itching and nasal congestion. People who have experienced these reactions have required treatment including heart/lung resuscitation, oxygen, fluids given through the vein, hospitalization, and have needed treatment with inhaled drugs called beta-adrenergic agonists to help open the breathing airways, antihistamines, epinephrine (also known as adrenalin), and a medication given through the vein called a corticosteroid (or steroid) which helps to decrease the body’s allergic reaction by decreasing inflammation. If you experience a severe allergic or anaphylactic reaction, your healthcare professional will immediately stop the infusion of Fabrazyme and provide you the necessary emergency medical treatment. Because of the possibility that severe allergic reactions may occur, appropriate medical support should be available during your Fabrazyme infusion.

  • For patients who have had reactions to their infusions, it is recommended that they be given anti-fever and antihistamine medications right before their next infusions.
  • Infusion reactions have happened in some patients even after taking these medications and steroids by mouth before their infusions.
  • If an infusion reaction occurs, slowing the infusion rate, stopping the infusion for a short time and/or giving more anti-fever and antihistamine medications and or steroids may improve the symptoms.
  • If severe infusion reactions happen, your healthcare professional should consider stopping the Fabrazyme infusion right away and should provide medical care for your condition.
  • Severe reactions are generally managed by giving antihistamine medications, corticosteroids, fluids through the vein, and/or oxygen when needed.
  • Because severe infusions reactions may happen, medical treatment should be readily available during your Fabrazyme infusion.

Providing Fabrazyme to patients who have experienced severe or serious allergic reactions to Fabrazyme should only be done after carefully considering the risks and benefits of continuing the treatment, and only under the direct supervision of a qualified healthcare professional and with appropriate medical support readily available.

The most common side effects reported with Fabrazyme are infusion reactions, some of which were severe. When Fabrazyme was tested in clinical studies, infusion reactions occurred in approximately 50-55% of patients. Serious and/or frequently occurring side effects (occurring in 5% or more of the patients) thought to be related to Fabrazyme have included one or more of the following: chills, fever, feeling hot or cold, trouble breathing, nausea, flushing of the skin, headache, vomiting, burning and/or tingling sensation, fatigue, itching, pain in the hands and feet, high blood pressure, chest pain, throat tightness, abdominal pain, dizziness, rapid heart rate, nasal congestion, diarrhea, swelling in the legs, muscle pain, back pain, paleness of the skin, slow heart rate, hives, low blood pressure, face swelling, rash and sleepiness.

People with advanced Fabry disease may have heart problems, which may put them at a higher risk for severe complications from infusion reactions, and these patients should be watched closely during their infusion if the decision is made to give them Fabrazyme.

Other serious side effects that were seen in the clinical studies included stroke, pain, lack of muscle coordination, slow or irregular heartbeat, stopping of the heartbeat, decreased blood pumped by the heart, dizziness, hearing loss, and kidney problems resulting in too much protein leaving the body in the urine (nephrotic syndrome). These side effects also occur as part of Fabry disease.

Severe and serious infusion reactions have been reported since Fabrazyme has been approved, some of which were life threatening including anaphylactic shock (a severe allergic reaction). In addition to the above side effects, the following have been reported since Fabrazyme has been approved: joint pain, lack of strength or energy, redness of the skin, increased sweating, reactions at the place where the catheter to give the infusion is placed, increased tearing from the eyes, allergic inflammation of blood vessels, enlarged lymph nodes, decreased sensitivity to touch or pressure, decreased sensitivity of the mouth, sensations of an abnormal heartbeat, runny nose, low oxygen (in general), and low oxygen levels reaching different parts of the body.

Since Fabrazyme has been approved, there have been side effects that resulted in death that may or may not be related to the use of Fabrazyme. These included: the heart and/or lungs stop working (known as cardiorespiratory arrest, respiratory failure, and/or cardiac failure), life-threatening infection in the blood stream (known as sepsis), stroke, heart attack, kidney failure, and pneumonia. Some of these side effects were reported in Fabry disease patients with significant underlying disease.

The safety and effectiveness of Fabrazyme in patients younger than 8 years of age have not been studied.

Most patients taking Fabrazyme who develop IgG antibodies, which are commonly produced by your immune system in response to things it does not recognize as naturally being part of your body, do so within the first three months of taking the medication. In children, the development of these IgG antibodies was associated with Fabrazyme staying in the body for a longer time (prolonged half-life), which was rarely seen in adult patients.

In the clinical studies, a few patients developed IgE antibodies or a reaction to an allergy skin test specific to Fabrazyme. IgE antibodies are usually produced by the body’s immune system during an allergic reaction. Your doctor should consider testing for IgE antibodies if you experience suspected allergic reactions and consider the risks and benefits of continued treatment with Fabrazyme if you have IgE antibodies against Fabrazyme.

Fabrazyme is available by prescription only. You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/safety/medwatch or call 1‑800‑FDA‑1088. You may also contact Sanofi Genzyme at 1-800-745-4447, option 2. To learn more, please see the full prescribing information (PDF) or contact Sanofi Genzyme at 1-800-745-4447.