Gaucher disease type 1 is a rare, progressive condition with many different symptoms. However, it can be managed appropriately.
When the diagnosis is missed, a patient with Gaucher disease type 1 may experience delays for up to 10 years. Gaucher disease type 1 is progressive and over time may lead to:
Bone pain, death of bone tissue (avascular necrosis), loss of bone mass and bone weakness (osteopenia and osteoporosis), and fractures
Enlarged spleen (splenomegaly) and liver (hepatomegaly)
Lung disease and high blood pressure affecting the lungs and heart (pulmonary hypertension)
Bleeding and bleeding complications
Fatigue caused by anemia, resulting from a lack of red
blood cells
Slower growth in children
Inflammation throughout the body
Reduced quality of life
Shorter life span and an increased risk of cancer
Early diagnosis and timely disease management remain important, as damage caused by Gaucher disease type 1 may be irreversible
A diagnosis of Gaucher disease type 1 can pose unique challenges for children. Some children may find it hard to understand the illness and its effects, especially if it affects their participation in certain activities. If they have started treatment, they may have questions about it.
Offer reassurance
When talking to children about Gaucher disease type 1, the most important thing is to reassure them that illness does not change who they are.
Answer questions according to maturity level
When responding to children’s questions, answers should vary depending on their age and developmental level.
If your child has started treatment, talk to your doctor about what your child might want to know, such as:
Remember, each child responds differently to challenging situations. Reach out to your child’s doctor about how best to support him or her.
A simple blood test can confirm a diagnosis of Gaucher disease. Genetic testing can also be done to additionally confirm a diagnosis, or to identify altered genes and carriers. Although carriers may not have the disease themselves, it’s important to identify them because Gaucher disease could be passed on. Learn more about testing resources at GaucherCare.com.
Suspect Gaucher disease? Talk to your doctor about getting tested. It’s just a simple blood test.
Cerezyme® (imiglucerase) for injection is indicated for treatment of adults and pediatric patients 2 years of age and older with Type 1 Gaucher disease that results in one or more of the following conditions:
Hypersensitivity and Infusion-Associated Reactions: Serious allergic reactions (anaphylaxis) have been reported in patients treated with Cerezyme. Symptoms suggestive of an allergic reaction have been reported during or shortly after an infusion and include itching, flushing, hives, swelling, chest discomfort, shortness of breath, coughing, cyanosis (a bluish discoloration of the skin due to diminished oxygen), rapid heart rate, and low blood pressure. Inform your doctor and seek medical care if you experience any of these symptoms. If you have had an allergic reaction to Cerezyme, you and your doctor should use caution if you continue to receive treatment with Cerezyme.
Immune Responses: Approximately 15% of patients have developed immune responses (antibodies) to Cerezyme during the first year of therapy. These patients have a higher risk of an allergic reaction (hypersensitivity). Your doctor may periodically test for the presence of antibodies.
Adverse Reactions:
Adverse reactions reported in adults include back pain, chills, dizziness, fatigue, headache, hypersensitivity reactions, nausea, pyrexia, and vomiting.
Adverse reactions reported in pediatric patients 2 years of age and older are similar to adults.
Please see the Full Prescribing Information.
To report SUSPECTED ADVERSE REACTIONS, contact Sanofi Medical Information at 1-800-745-4447, Option 2.
