As recently as 2001, women with a mutation that causes Fabry were considered by medical professionals to be “asymptomatic” carriers of the disease, meaning they could pass on Fabry without actually having any signs or symptoms.
Despite past misconceptions, we now know that most women who have a mutation in the gene do experience the effects of Fabry, often as severely as men who have a mutation. Thousands of women around the world have Fabry disease. International Fabry Women's Day, as recognized by the National Fabry Disease Foundation (NFDF), is the first Saturday in April.
Because the misconception that women are only carriers of Fabry has been so prevalent in the medical community, some healthcare professionals may still believe it to be true. But there are resources, including this website, that can help you take charge of your care.
A discussion on navigating life as women with Fabry disease.
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Because Fabry is an X-linked disorder and women have two X chromosomes, the GLA gene that causes Fabry may work normally in some parts of the body but not others. This is believed to be one reason why women have more variable symptoms than men. Women with Fabry may experience all or just some of the effects of Fabry to different extents, or they might never feel any of them. Because symptoms can vary, it is important that you and your healthcare provider recognize that your symptoms can be caused by Fabry and address them appropriately.
Read the Women and Fabry brochure to see some of the more common ways that Fabry affects women.
If you are a woman who is experiencing symptoms of Fabry, you are in the majority.
of women diagnosed with Fabry report having signs and symptoms of the disease.
Though women may first notice effects of Fabry when they are teenagers, they often have to wait years before finding out the cause.
is the average amount of time between when women first notice effects of Fabry and when they receive a definitive Fabry diagnosis.
As mentioned above, women can experience the effects of Fabry just as severely as men. For example, one survey looking at pain intensity, duration, and frequency as a result of Fabry disease in both genders showed that pain ratings from women were virtually indistinguishable from those of men.
However, regardless of if or how you are experiencing its symptoms, Fabry is a progressive disease, meaning damage is always happening even if you can’t see it. That's why it's so important to keep an eye on your disease, as it can inform what steps you and your healthcare team take in managing it.
Hear from Rebecca, a Galafold® (migalastat) patient and mother to a son with Fabry, who challenged a reluctance to diagnose and manage her Fabry because of her gender.
Hear from Rebecca, a Galafold® (migalastat) patient and mother to a son with Fabry, who challenged a reluctance to diagnose and manage her Fabry because of her gender.Watch Rebecca's full video
Our interactive Fabry discussion guide was created to help you have productive discussions with your healthcare providers.Prepare your guide
From your specific variant (mutation) to how Fabry affects your body, your Fabry is unique. So is when and how it's treated. The decisions around treating your Fabry are between you and your healthcare providers. You may face resistance to treat your Fabry or hesitation to treat until your symptoms are more severe (a “wait and see” approach). Remember that you are a part of these decisions. Begin by cultivating a healthcare team and community that believes, and believes in, you.
Rebecca explains why she advocated for her treatment to start sooner and why she feels that “for women especially, if you feel that you need that treatment... you need to push for it.”
Rebecca explains why she advocated for her treatment to start sooner and why she feels that “for women especially, if you feel that you need that treatment... you need to push for it.”Watch Rebecca's full video
For adults with an amenable GLA variant, Galafold may be a treatment possibility.
Fabry disease is an X-linked genetic disorder. The disease is caused by a change in the DNA called a mutation. This mutation happens on the X chromosome, and can be passed down by either sex, so there may be more people in your family affected by Fabry than you think.
of the time, fathers pass Fabry to their daughters.
of the time, mothers pass Fabry to their children, male or female.
We know that people with Fabry may have feelings of guilt for possibly passing Fabry on to their children. While those feelings are valid, it’s important to understand and accept that we can’t control our genetics. What you can control is how you care for yourself and your children once you know what you’re up against.
Build your family tree at FabryConnect to help determine who in your family may be at risk for Fabry disease.
Build my family tree
Before taking Galafold® (migalastat), tell your healthcare provider about all of your medical conditions, including if you:
Tell your healthcare provider about all the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements.
What are the possible side effects of Galafold?
The most common side effects of Galafold include headache, stuffy or runny nose and sore throat, urinary tract infection, nausea, and fever.
These are not all the possible side effects of Galafold. Call your healthcare provider for medical advice about side effects.
What is Galafold?
Galafold is a prescription medicine used to treat adults with Fabry disease who have a certain genetic change (variant) in the galactosidase alpha gene (GLA) that is responsive (amenable) to Galafold.
It is not known if Galafold is safe and effective in children.
You may report side effects to FDA at 1-800-FDA-1088. You may also report side effects to Amicus Therapeutics at 1-877-4AMICUS.
Please click here for Full Prescribing Information, including Patient Information and Instructions for Use.