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Answer a few questions to assess your likelihood of having Fabry disease.
The Symptom Matcher does not constitute medical advice and is no substitute for consultation provided by medical professionals. The Symptom Matcher is offered solely for informational purposes for individuals seeking to learn more about Fabry disease and their likelihood of having Fabry disease. Call your local emergency hotline if you are currently experiencing a medical emergency.
The Symptom Matcher is provided in collaboration with ThinkGenetic, and use of the tool is subject to the ThinkGenetic Privacy Policy.
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a. Fabry disease
b. Kidneys do not work as well as they should (renal failure) when they were under 50 years old
c. Bottom left part (Left ventricle) of the heart is too big (left ventricular hypertrophy) - when they were under 50 years old
d. Heart muscle is too big (hypertrophic cardiomyopathy) - when they were less than 50 years old
e. A positive newborn screening test for Fabry
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| Patient Experience 1 | |
|---|---|
| Preschool | He loves preschool and is making friends. He gets a really bad pain in his hands and feet once in a while. It's hard for him to describe it, but when it happens it's really hard to help him. It doesn't seem like normal aches and pains that kids get when they grow. Once in a while, he'll get really sick at preschool after time running around outside. He'll even throw up, and I wonder if he has a stomach bug. He's always the boy running around without bundling up, even in winter. His doctor thinks he doesn't sweat like other kids, so he doesn't stay cool like usual. |
| Early childhood | School is going great and his teachers love having him in class. The pain in his hands and feet comes once in a while, and now he says it's like they're on fire. He's got tummy pain too. His stomach is tricky, because he'll be constipated and then have diarrhea. Then he'll get attacks of throwing up. It's like a stomach bug that doesn't go away. He has to miss a bit of school, and then he gets really wiped out. The other day I noticed a dark mark, almost black, below his belly button. I'm surprised I didn't see it before because he rarely has a shirt on at home. He overheats really easily and doesn't sweat to cool down like everyone else. |
| Late childhood | Growing up has been tough for him because of the terrible burning pain in his hands and feet. He says it's like being poked with nails. Now he gets headaches a lot, too. He wants to be like all his friends but the pain, difficulty sweating and always being tired doesn't help matters. The heat intolerance was tough to explain to the gym teacher, and then how sick he gets after exercise. The diarrhea is also really bad and his belly keeps hurting, especially after eating. So he doesn't eat much. Then these dark-red bumps started showing up on his skin, around where his swim trunks go. It's hard for him. The doctor wants to send him to get his stomach and eyes checked out. |
| Teenager | It's tough not being able to keep up with the other guys. The pain in my hands and legs and my headaches are too intense sometimes. I love watching sports, but if I exercise I feel really sick afterwards. I'll throw up and feel awful. And my stomach is upset a lot, with pain or throwing up or I'm running to the bathroom with diarrhea. It's so embarrassing at school, and all I want to do is bulk up. But I don't feel like eating. Only my good friends get it. I've got these dark-red bumps around where my swim trunks go, which is awful in the locker room. |
| Young adult | Pain is a regular thing for me -- in my hands, feet, stomach. I'm really glad my boss is so understanding at work. I feel tired all the time and depressed. I don't feel like eating because I'll probably end up with constipation or diarrhea. I think I need to get my hearing checked, because my wife is telling me to turn down the TV more and more. Sometimes I really need it louder, especially when I get this buzzing sound in my ears that won't go away. My urine is really foamy when I pee into the toilet. I would say my health is pretty poor. |
| Adult | Work is going well, but it's hard to manage taking time off for my severe fatigue, pain, bad stomach, and other medical problems. I have protein in my urine and my kidney function is worsening. I noticed that my heartbeat was racing and have even passed out at home. My doctor sent me to get my heart checked. The heart doctor said my heart is slowly getting bigger and weaker, and wants to check it once in a while. My ankles and feet get so swollen I wear sandals a lot. I really want to keep working because I feel too young to be this unhealthy. I'm so glad my family understands. |
| Patient Experience 1 | |
|---|---|
| Early childhood | I never noticed anything until now, but she has pain and tingling in her feet once in a while. Sometimes it's in her hands. It comes and goes and doesn't stop her from what she needs to do in school. She's a busy bee and her teachers love her. |
| Late childhood | Her fingers have a pins-and-needles feeling once in a while, just like a few years ago. Now she tells us more about pain in her hands and feet too. Sometimes it's like a burning pain. It's usually random, not when she's had an intense basketball practice or something. Sometimes it hits her when she's sick or when it's super hot out -- she seems a little sensitive to the heat. We can't figure it out, but we mentioned it to the doctor. She also seems to be more tired than usual and she hates that. And she sure gets a lot of headaches for a young girl. |
| Teenager | I love playing basketball, but I dread how I feel after practices and games. I feel great when we're playing, until the burning in my feet starts. I try to play through it, but after I am just wiped out. Sometimes I have really bad stomach pain and can't poop, other times I'll have diarrhea. Hot weather seems to bother me more and more, I just can't stay cool. Sometimes I feel dizzy and have to sit down. Classes at school are going great, though, and I can't wait to graduate from high school. I'm excited but nervous when I think about college. |
| Young adult | I'm pretty healthy, but there are little things bother me. I hate going outside in the hot because I can't stand the heat. It wipes me out and I start to feel sick. Pain in my hands and feet still hits me, and more when I'm sick or overheated. I had to give up sports because I feel so sick after exercising. I still try to do some light exercise when I can. Work is going great and I don't have a physical job, so that's good. Once in a while I have to take a sick day because of migraines or stomach pain, which sometimes comes with constipation and diarrhea. It feels like a stomach flu but it's not. |
| Adult | Work is going well. Thankfully we have a good plan for sick days and my boss is understanding, because I have to stay home once in a while. I'll get hit with burning pain in my hands and feet, or my stomach. Some days it's that I have to run to the bathroom a bit for diarrhea or constipation, which wipes me right out. Other days it's migraines. I'm always the one turning down the thermostat in the office because I can't stand the heat. Lately I've been having a buzzing in my ear. My doctor wants me to get some heart and kidney tests. I've been having dizzy spells and feel like my heart is beating too fast or too slowly. |
| Patient Experience 2 | |
|---|---|
| Young adult | I haven't noticed anything until now, but I guess a few things bother me about my health. Luckily, I've always been thin and actually have trouble putting on weight. It drives other people crazy because they have the opposite problem. Lately I've noticed that sometimes I feel like my heart is racing. |
| Adult | My heartbeat races often and it's starting to concern me now. I mentioned it to my doctor, who sent me for some heart tests. They told me that my heart is bigger than it should be, and it is going to get bigger and weaker over time. I might need heart surgery at some point. I was so shocked because I feel like I'm too young to have heart disease. I've noticed that my hands and feet are a little puffy sometimes, so I like to rest with my feet up watching TV even more now. The heart doctor wants to check on my heart once in a while and see if it's still pumping well. I'm glad that I can keep my job and still work, because I need to support my family. |
| Patient Experience 3 | |
|---|---|
| Young adult | I have been healthy, but I worry sometimes about how well my heart will work as I get older. When my mom turned 40 she started having chest pain and felt like her heart was beating too fast or too slow sometimes. Her dad had the same problems and when he was in his 50s the doctors told him his heart was too big and wasn’t working well. I wonder if that is in my future too. |
| Adult | My heartbeat races often and it's starting to concern me. I mentioned it to my doctor, who sent me for some heart tests. They told me that my heart is bigger than it should be, and it is going to get bigger and weaker over time. I might need heart surgery at some point. I was so shocked because I feel like I'm too young to have heart disease. The heart doctor wants to check on my heart once in a while and see if it's still pumping well. I'm glad that I can keep my job and still work, because I need to support my family. |
| Patient Experience 2 | |
|---|---|
| Young adult | I have been healthy and work hard at school and home, I worry about my dad mostly. When he turned 40 he started having chest pain and felt like his heart was beating too fast or too slow sometimes. It took a long time for him to go to the doctor and they weren’t quite sure what was happening to him. His mom had the same problems and when she was in her 50s the doctors told her that her heart had a big lower left chamber and wasn’t working well. I wonder if that is in my future too. |
| Adult | My heartbeat races often and it's starting to concern me now. I mentioned it to my doctor, who sent me for some heart tests. They told me that my heart is bigger than it should be, and it is going to get bigger and weaker over time. I might need heart surgery at some point. I was so shocked because I feel like I'm too young to have heart disease. I've noticed that my hands and feet are a little puffy sometimes, so I like to rest with my feet up watching TV even more now. The heart doctor wants to check on my heart once in a while and see if it's still pumping well. |
| Patient Experience 3 | |
|---|---|
| Adult | Even though he is very healthy, my son had blood taken from his heel in the hospital checking for newborn problems. The doctor just told me that he tested positive for Fabry disease. He also told me that this is something we need to know for his future. Then the doctor suggested that I should get my heart evaluated by my doctor. I’ve always been healthy so I don’t think they’ll find any problems. |
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NOTICES & DISCLAIMERS The Symptom Matcher does not constitute medical advice and is no substitute for consultation provided by medical professionals. The Symptom Matcher is offered solely for informational purposes for individuals seeking to learn more about Fabry disease and their personal risk exposure. Call your local emergency hotline if you are currently experiencing a medical emergency
