What are the main signs and symptoms of Gaucher disease?

Patient Experience 1
Toddler	Every toddler has a sweet little toddler belly but today the pediatrician told me that my toddler’s big belly is caused by an extra big spleen. Even the doctor seemed a little surprised at how large his spleen was during the exam. I was shocked! My toddler looks fine and acts normal and the only thing that I shared with the doctor is that he does seem to bruise a little more easily than my other kids.
Preschool	My child loves preschool and is doing well with learning and making friends. While it’s tough getting him up for school every morning the teachers tell me that my preschooler does seem to be extra tired after walks or running games and always takes a full nap in the afternoon. Lately, I have noticed he seems to have more bruises, but preschool is an active place and they play many physical games. Another thing, while my preschooler isn’t eating more than usual, I’m having to find clothes with an adjustable waistband as my preschooler has a big belly.
Early childhood	School is going great and my child’s teachers like having him in class. He is a hard worker, but I’ve noticed that a full day of school exhausts him and getting homework done can be near impossible before he goes to sleep. Even over a weekend he takes a midafternoon nap and I thought he would outgrow the nap phase. I often wonder if he has mono or another virus that makes him so tired all the time and makes him bruise so easily. I need to ask the doctor about that. I also should ask the doctor what he recommends to help shrink his big belly. He doesn’t eat much but his belly just keeps growing larger. And one more thing I need to remind myself to ask the doctor is about “growing pains” as my child seems to constantly complain about bone pain.
Teenager	School is going fine. But I've grown up my entire life with a bigger stomach. I had a belly that stuck out when I was younger and the doctor said I had a large spleen. I get embarrassed sometimes. It's not fun having to constantly suck in my stomach to make it look normal. I hate wearing swimsuits or changing for gym class at school. I have to be really careful playing sports and my mom doesn't want me to be too active. It's not a big problem, actually, as I'm too tired to really want to do a lot of sports or activities with my friends anyway. And besides, I bruise and bleed pretty easy and would be totally embarrassed if my nose bled in front of my friends. I assumed my bruising and being tired came from my activities, but I was wrong. Sometimes these growing pains, pain in my bones, are so bad, I once thought that I'd have to go to the hospital.
Young adult	I feel like an old person even though I’m not that old. I'm tired a lot and have a hard time keeping up with others or even exercising. It's hard to explain to people and sometimes I feel like they think I'm lazy. The pain in my bones can be really bad and I have to go to the hospital. But then it's gone, and I have no idea what made it come or go. The last time it happened, the doctors ran some tests. They told me that my bones are weak for someone my age. It's like how old people get weaker bones as they get older, like arthritis or something. I have to be pretty careful because I bruise so easily and you would think these nosebleeds would go away.
Adult	Work is going well. I'm glad I have a job where I don't have to do much physical activity. I am tired a lot and fatigue is a regular part of my life. It's been something I've had to deal with since I was younger. But now, people don’t understand when I have to say no because I'm tired. Even my doctor doesn't bug me about exercising anymore. I still have bone pain that is so painful that I have to go to the hospital every once in a while. The doctors thought I had something called osteomyelitis once but thank goodness I didn’t have that. We figured out that I have osteoporosis and avascular necrosis of my hip and I’ll probably have to have hip surgery one day. My doctor also informed me that my spleen and liver are bigger than they should be and my platelets and iron count is low.

Patient Experience 2
Infancy	She is still weak, and that's keeping her from holding her head up on her own. We are having a hard time feeding her because she can't swallow or suck milk or formula very well. There is a little squeak noise she makes when she breathes in. Now she's started to squint her eyes, and we're wondering if she can see what's around her. She still twitches her arms and legs and has seizures. Her muscles seem really tight when she does that. We are wondering when we can take her home. The doctors are always running tests and it feels like they keep finding new things.

Patient Experience 2

Infancy

She is still weak, and that's keeping her from holding her head up on her own. We are having a hard time feeding her because she can't swallow or suck milk or formula very well. There is a little squeak noise she makes when she breathes in. Now she's started to squint her eyes, and we're wondering if she can see what's around her. She still twitches her arms and legs and has seizures. Her muscles seem really tight when she does that. We are wondering when we can take her home. The doctors are always running tests and it feels like they keep finding new things.

Patient Experience 3
Toddler	Every toddler has a sweet little toddler belly, but today the pediatrician told me that my toddler’s big belly is caused by an extra big spleen. Even the doctor seemed a little surprised at how large his spleen was during the exam. I was shocked! My toddler looks fine and acts normal although he does seem to bruise a little easier than my other kids at the same age. I’ve noticed that when he walks his gait is just a little ‘off’, something that a mother knows is just not right.
Preschool	My child loves preschool and is doing well with learning and making friends. The teachers tell me that my preschooler does seem to be extra tired after walks or running games and always takes a full nap in the afternoon. I have noticed more bruises on him than my other children, but preschool is an active place and they play many physical games. I need to find more clothes with an adjustable waistband as my preschooler has a big belly. It’s interesting that my child tends to blink excessively and while I can’t really describe it, he turns his full head to look at me versus just using his eyes to see me.
Early childhood	School is not going very well for my child. The teachers are worried that he can’t see presentations and that something is wrong with his vision as he blinks a lot and his eyes don’t seem to move along with his reading. He tries hard, but I’ve noticed that a full day of school exhausts him and doesn’t seem to understand his homework. He can do more work over the weekend if he takes a midafternoon nap. I often wonder if he has mono or another virus that makes him so tired all the time and makes him bruise so easily. I need to ask the doctor about that. I also should ask the doctor what he recommends to help shrink his big belly. He doesn’t eat much but his belly just keeps growing larger.
Teenager	I hate school. I just can’t learn like the other kids and I think it’s getting worse. I get teased a lot for having a big belly and skinny legs. I’m very clumsy and teachers have accused me of drinking because I stagger when I walk. I'm too tired to really want to do anything other than video games. And besides, I bruise and bleed pretty easily. Sometimes I have pain in my bones that it is like someone is sticking a knife in my leg. Now, the doctor says I’m having seizures.
Young adult	Seems my gait, the way I walk, is a little more unsteady than it used to be. I’m fearful I’ll lose my job as I just can’t concentrate and I still have many seizures. I wonder if the seizures are causing my brain to not work as well anymore. I am tired all the time and fatigue is a regular part of my life. It's been something I've had to deal with since I was younger. I still have pain in my bones that is so painful that I have to go to the hospital. We figured out that I have osteoporosis and a small bone break and some problems with my spine. My friends and family always remark that my eyes look cross-eyed and I constantly blink and have to quickly turn my head to see things.

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Low platelets (thrombocytopenia)

Enlarged liver (hepatomegaly)

Sharply turning the head in a jerky, thrusting fashion (head-thrusting)

Excessive blinking

Inability to gain weight and grow at the expected rate (failure to thrive)

A harsh vibrating noise when breath holding (stridor with breath holding)

Difficulty swallowing (dysphagia)

Patient Experience 2
Infancy	She is still weak, and that's keeping her from holding her head up on her own. We are having a hard time feeding her because she can't swallow or suck milk or formula very well. There is a little squeak noise she makes when she breathes in. Now she's started to squint her eyes, and we're wondering if she can see what's around her. She still twitches her arms and legs and has seizures. Her muscles seem really tight when she does that. We are wondering when we can take her home. The doctors are always running tests and it feels like they keep finding new things.

Patient Experience 2

Infancy

She is still weak, and that's keeping her from holding her head up on her own. We are having a hard time feeding her because she can't swallow or suck milk or formula very well. There is a little squeak noise she makes when she breathes in. Now she's started to squint her eyes, and we're wondering if she can see what's around her. She still twitches her arms and legs and has seizures. Her muscles seem really tight when she does that. We are wondering when we can take her home. The doctors are always running tests and it feels like they keep finding new things.

Not At All Like

It doesn't sound like my situation at all.

Not Much Like

It sounds like it's not very similar to my situation.

Somewhat Like

It sounds like it has some similarities to my situation.

A Lot Like

It sounds very similar to or exactly like my situation.

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Signs &
Symptoms