If you have Gaucher disease, or your child does, the way it feels can vary depending on the person and type of Gaucher disease. You and your doctor will be able to choose the best treatment once you figure out which kind you've got.
There are three main forms of the disease: types 1, 2, and 3. No matter which kind it is, the reason you have Gaucher is that you were born with a change in one of your genes called a mutation. This causes a certain fat to build up in organs like your bone marrow, liver, spleen, or nervous system, and leads to a variety of symptoms that range from mild to very serious.
It's the most common form. You may hear your doctor call it non-neuronopathic Gaucher.
Type 1 symptoms can sometimes be mild. Some people may never notice it. Others may have more severe problems.
Your symptoms can crop up at any age, from childhood to adulthood. Some that you may get are:
- Enlarged liver or spleen
- Anemia (low red blood cell levels), which can make you tired
- Low levels of blood platelets, which can make you bruise or bleed easily
- Osteoporosis (weak bones that break easily)
- Bone pain
- Lung disease
This form of the disease is much more serious than type 1. It first shows up in infants, usually at age 3 to 6 months.
If your baby has this kind of Gaucher, you'll need to get lots of support from family and friends. Infants with this type often don't live past age 2. Reach out to those you love who can give you the emotional backing you need. You can also ask your doctor about how to get counseling or where you can meet other parents who are going through the same thing.
Type 2 affects the central nervous system. You can usually expect some of these symptoms in your child:
- Enlarged spleen
- Can't swallow
- Abnormal eye movements
- Doesn't gain weight
- Throat muscle spasms
- Collodion skin, which looks like a thin, shiny coating
- Slow heart rate
- Stops in breathing, or apnea
- Lung problems
- Brain damage
- Bluish skin
This kind of Gaucher also affects the central nervous system, and like type 2, it can also start in childhood, but usually at a later age.
There are three varieties of type 3 Gaucher: 3a, 3b, and 3c. But these forms sometimes overlap in symptoms. Type 3b may cause liver or spleen problems earlier.
You'll want plenty of help if your child has type 3 -- from family and friends and also health care professionals. Your youngster may feel very ill and may need help to eat or get extra nutrition.
As type 3 symptoms get worse, your child may need help to dress, bathe, or get around the house.
Type 3 has the same blood and bone problems that other forms of Gaucher disease do, and it can also cause these symptoms in your child:
- Hard to move eyes side to side or up and down
- Lung disease that gets worse over time
- Mental ability slowly breaks down
- Problems controlling arms and legs
- Muscle spasms or shocks
Type 3c is also called cardiovascular Gaucher disease. It's a rare type that mostly affects your heart. Signs of this form usually show up in childhood. The most common symptom is hardened heart values.
Cardiovascular Gaucher may also cause these symptoms in kids:
- Eye problems
- Bone pain
- Bones break easily
- Mildly enlarged spleen
Other Rare Types of Gaucher
Perinatal lethal Gaucher disease is another type. It's the most severe form of the disease. An infant with this type may only live a few days.
Signs of perinatal lethal Gaucher are:
- Skin swelling from fluid buildup
- Dry, scaly skin called ichthyosis
- Enlarged liver or spleen
- Severe brain problems
- Swollen stomach
- Unusual facial features
No matter which type you or child has, talk to your doctor about how to get the right treatment. Ask him where to find support groups in your area, where you can meet others who can share their experiences and give advice on how to get the resources you need.
National Human Genome Research Institute: "Learning About Gaucher Disease."
National Gaucher Foundation.
National Organization for Rare Disorders: "Gaucher Disease."
U.S. National Library of Medicine Genetics Home Reference: "Gaucher Disease."
Children's Gaucher Research Fund.
Baby's First Test Newborn Screening Clearinghouse.