Fabry disease
Narah
Francinara “Narah” Cano is a business executive, humanitarian volunteer, and rare disease advocate originally from Brazil and now living in Miami, Florida. After experiencing unexplained symptoms beginning in childhood, she was diagnosed with Fabry disease in 2023. Today, she is actively involved in rare disease advocacy, including participating in Rare Disease Week on Capitol Hill and using her instagram page We Are Rare 2023 to raise awareness about life with rare and often invisible conditions.
Helpful Information:
Fabry disease is a rare, inherited condition caused by changes in the GLA gene, leading to a missing enzyme called alpha-galactosidase A. Without the enzyme, there is a build up of a fatty substance called globotriaosylceramide (Gb3) in cells, causing symptoms including neuropathic pain, renal impairment, angiokeratomas, hypertrophic cardiomyopathy, and increased risk of stroke. Symptoms vary from person to person. It is diagnosed with genetic testing. To learn more about genetic testing, please download this PDF handout sponsored by GeneDx.
Enzyme replacement therapy (ERT) is a treatment provided biweekly to replace the missing enzyme. It is not a cure.
Discussion with Narah
Your symptoms began in childhood, but you were not diagnosed with Fabry disease until 2023. What was your journey to diagnosis like?
My journey to diagnosis was very long. Looking back, I had symptoms of Fabry disease since childhood, but for decades I had no explanation for why my body behaved differently. As a child, I experienced pain and burning sensations in my hands and feet, headaches, and other symptoms that I learned to live with. At only 10 years old, I suddenly lost total hearing in my right ear. Over the years, different symptoms appeared, but no one connected them as pieces of the same puzzle.
Like many people living with a rare disease, I adapted. When you have experienced something for most of your life, you begin to believe it is simply your “normal”. I continued studying, working, traveling, building my career, and living my life without knowing there was an underlying genetic disease.
Everything finally began to make sense when genetic testing led to my Fabry disease diagnosis in 2023. I was 49 years old. After nearly a lifetime of unexplained symptoms, I finally had a name for what I had been experiencing.
Can you share a bit about what receiving a diagnosis meant for you?
Receiving a rare disease diagnosis is complicated. There is relief in finally having answers, but there is also fear and uncertainty about what the diagnosis means for your future. For me, it also meant looking back at decades of my life with completely different eyes.
After allowing myself time to grieve and process my diagnosis, I found something I never expected: a new sense of purpose. Today, I use my experience to advocate for people living with rare diseases and, especially, to remind others of how important it is to truly listen to patients. Sometimes the clues have been there for years—we just need someone willing to listen, look deeper, and connect the pieces.
You now receive enzyme replacement therapy every 14 days. How has receiving treatment affected your health and your day-to-day life?
At first, I received my ERT at the hospital, which made treatment more complicated and time-consuming. My first infusions took about eight hours. Over time, we gradually reduced the infusion time to an hour and a half, but I experienced a reaction. My doctor then adjusted the protocol and stabilized my infusion at two hours at a constant rate, which has worked very well for me.
Today, I receive my infusions at home every 14 days, and that has made a significant difference in my quality of life. I still need to take premedication to help prevent reactions, but overall, I feel much better with treatment. After all this time, ERT has simply become part of my routine. I sometimes compare it to going to the gym—it is a commitment I have to my body and my health. I organize my life around it, show up for it, and know why it matters.
On October 14, I will receive my 76th infusion—and yes, I count every single one. To me, each infusion matters and deserves to be celebrated. Every number represents another treatment that is helping keep me alive and giving me the opportunity to continue living my life. Treatment requires commitment, but I am deeply grateful to have it. Many people living with rare diseases still do not have an approved treatment for their condition, and I never take for granted that I have one that helps me feel better and continue living my life.
What has your experience been like living with an invisible condition, and what do you wish others understood about conditions or disabilities that may not be visible?
Living with an invisible condition can be one of the most challenging parts of having a rare disease. People may look at me and see someone who is smiling, traveling, working, advocating, dressing up, or enjoying life, and assume that I must be fine. What they cannot see is the neuropathic pain, fatigue, heat intolerance, dizziness, or the effort it sometimes takes just to get through a normal day.
There have been times when I have felt judged because I “don’t look sick.” But illness does not have a specific appearance. I can put on makeup, wear high heels, smile for a picture, and still be in pain. I can have a wonderful day today and struggle to get out of bed tomorrow. Both versions of me are real.
I also don’t want to spend my life trying to look sick enough for people to believe me. I want to live. I want to travel when my body allows me to, laugh with my friends, dress up, work, advocate, and enjoy every opportunity I can. Doing those things does not mean my disease disappeared; it means I refuse to allow it to take away more of my life than it already has.
What I wish people understood is very simple: you never truly know what someone else is carrying. Not every disability requires a wheelchair, and not every serious condition can be seen from the outside. Instead of judging someone based on how they look, offer compassion.
I don’t want people to feel sorry for me. I want them to understand me. There is a very big difference.
Your dog, Ben, is joining you in your photo for this story. Can you tell us a little about him and the role he has played in your life and journey?
Ben is so much more than my dog—he has been my little companion throughout this journey, and sometimes I think he understands what I am feeling before I even say anything.
When I am in pain, he will often lick the exact part of my body that is hurting. When my headaches become unbearable, he lies on top of my head, almost as if he is trying to make the pain go away. On the days when I am simply not well, he stays in bed beside me. Somehow, he even seems to understand when I am not able to take him for his usual walks.
But Ben also makes sure I keep going. There are days when I might prefer to stay in bed, but he needs to eat, he needs me, and that forces me to get up. Having someone depending on you—even a little four-legged someone—can be a powerful reason to keep moving. When I feel like I can’t take it anymore, Ben somehow seems to know. He comes to me and gently lifts his paw, as if he is asking me for something—or maybe reminding me to keep going. When I am sad, he nudges my hand with his nose and head, asking me to pet him. In those moments, it feels as though he is not only asking for affection, but giving it back to me in exactly the way I need it.
He has also become part of my Fabry journey in a very literal way. Ben came with me to my first Fabry disease conference and has since attended many Fabry events and conferences with me. The funniest part is watching him during the presentations because sometimes he sits there looking as though he is actually listening and paying attention. At this point, I joke that Ben may have heard more about Fabry disease than many doctors!
He doesn’t understand the word “Fabry,” but he understands me. He knows when I hurt, when I need company, and when I need a reason to get out of bed. His unconditional love and companionship have brought comfort, laughter, and normalcy to some of the hardest moments of this journey. I truly cannot imagine going through it without him by my side.
Since your diagnosis, you have become involved in rare disease advocacy. What led you to become an advocate, and what do you hope to accomplish through that work?
When I first started my page, my goal was very simple: I wanted to help patients like me navigate the disease and, especially, the unknown. I never wanted to create an educational page because organizations like FSIG and NFDF already do that brilliantly. I wanted to offer something different—the patient perspective. What does it actually feel like to receive this diagnosis, go through treatment, live with the symptoms, experience the good days and the bad ones, and still try to live your life?
Before my diagnosis, I had never even heard of Fabry disease. When I first turned to “Dr. Google” for answers, what I found was so frightening that I practically thought I was going to die the next day. But then I began attending conferences, meeting other patients, learning more about the disease, and seeing people living their lives with Fabry. That completely changed my perspective. I realized how powerful it can be for a newly diagnosed patient to see someone else saying, “I am still here. My life is different, but I am living it. ” That is a big part of what I want my advocacy to accomplish. I want patients to have hope. We may not be able to do everything exactly as we did before, but we can adapt to our new reality, learn to respect our bodies, and continue to live meaningful lives. I also want people to understand that they cannot judge our health by how we look on a particular day. With diseases like ours, I can look perfectly fine now and feel completely different an hour from now.
As I became more involved in advocacy, my purpose expanded beyond sharing my own experience. I realized how important it is for patient voices to be present where decisions are made. I want lawmakers and policymakers who determine healthcare legislation and funding to understand what their decisions mean in the lives of real patients and families. I want to advocate for newborn screening because earlier diagnosis can help prevent or reduce serious consequences of disease and potentially save lives. I also want to see more efficient pathways for FDA approval of treatments, without compromising safety, because for patients with progressive or life-threatening diseases, time matters. Some lives simply cannot wait through years of unnecessary bureaucracy.
The deeper I go into advocacy, the more I learn—and the more I realize how much work there is still to do. Most importantly, I want patients to be heard, not judged. I want our experiences to matter in the conversations and decisions that directly affect our lives. Our stories are not just stories; they can help change healthcare, influence policy, create understanding, and give another patient hope.
Based on your own experiences, what do you wish healthcare professionals better understood about caring for people with rare or complex conditions?
Listen to us. Respect us when we describe what we are feeling, even when our symptoms do not immediately fit into an obvious explanation. Rare diseases are represented by the zebra for a reason. In medicine, doctors are often taught, “When you hear hoofbeats, think horses, not zebras,” meaning they should first consider the most common explanation. But rare disease patients are the zebras. Our symptoms, presentations, and experiences may not always look like what healthcare professionals see every day.
I will never forget going to the emergency room one day after I had seen my neurologist. The doctor asked me, “What are you doing here if you saw your doctor yesterday?” I was already scared and feeling very unwell, and that question made me feel as though I had to justify why I was seeking help. Shortly afterward, I fainted. I was having a stroke. That experience has stayed with me.
On the other hand, I have had healthcare professionals walk into the room and say, “I had never heard of your disease before, so I researched it before coming to see you.” I have so much respect for that. None of us will ever know everything, in medicine or in life. There is something very human and humble about being able to say, “I don’t know, but I am willing to learn.”
I have experienced this from the other side as well. I once had a doctor who was unfamiliar with Fabry disease and gave me information about women with Fabry that I later learned was not accurate. At a Fabry conference, I spoke with a physician who specialized in the disease and learned something that directly applied to my care. I went back to my doctor, explained what I had learned and shared the specialist’s recommendation. He listened, and today he follows that recommendation. That is what partnership in healthcare should look like.
Attending conferences, speaking with specialists, connecting with other patients, and learning about my own disease have taught me that, as patients living with rare conditions, we cannot leave everything in the hands of healthcare professionals. We have a responsibility to learn about our conditions, ask questions, speak up when something does not feel right, and advocate for ourselves.
Sometimes I am the patient, but sometimes I also have to be the voice in the room that says, “This is what I have learned about my disease. Can we look into this together?”
Knowledge is power—especially when you are rare.
What advice would you give to others navigating a rare or complex condition?
First, breathe. Give yourself time to process and grieve. A diagnosis can change the way you see your life, your future, and even yourself. Whatever emotions come with that are valid. I went through all of them myself. You deserve the time and space to process what is happening to you.
Second, learn to listen to your body. You know your body better than anyone else. And be careful about listening to the opinions of people who are not living what you are living. They may mean well, but they are not experiencing your pain, fatigue, limitations, fears, or uncertainty.
Third, learn to say NO. This was an important lesson for me. Your well-being is more important than making someone else happy. If saying yes means pushing your body beyond its limits, you will be the one dealing with the consequences afterward—and many times, you will be dealing with those consequences alone. Protecting your health is not selfish.
Fourth, try not to take everything personally. Sometimes people genuinely mean well but simply don’t know what to say, what to do, or how to handle your situation. Rare and complex diseases can be difficult for the people around us to understand too. Give grace when you can but also know when you need to protect your peace.
Fifth, don’t feel guilty for what you cannot do. You may have to cancel plans. You may need to rest while everyone else is doing something. You may not be able to live exactly as you did before. That does not make you weak or less worthy. Learning to respect your body’s limits is part of learning how to live with your new reality.
And finally, it is okay not to be okay. You don’t have to be strong every single day. You can cry. You can be frustrated. You can have days when you are tired of being brave. But a bad day does not mean you have a bad life. Give yourself permission to feel what you need to feel, and then, when you can, keep going. Your life may look different from what you once imagined, but different does not mean that it cannot still be beautiful, meaningful, and full of purpose.