Gaucher disease type 1 is a rare, progressive condition with many differentsymptoms. However, it can be appropriately managed.
When the diagnosis is missed, a patient with Gaucher disease type 1 may experience delays for up to 10 years. Gaucher disease 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
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 treatment remain important, as damage caused by Gaucher diseasemay be irreversible
A diagnosis of Gaucher disease 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.
When talking to children about Gaucher disease, 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 long-term enzyme replacement therapy for pediatric and adult patients with a confirmed diagnosis of Type 1 Gaucher disease that results in one or more of the following conditions:
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. Serious allergic reactions (anaphylaxis) have been reported in less than 1% of patients. Symptoms suggestive of allergic reaction happened in approximately 7% of patients, and include itching, flushing, hives, swelling, chest discomfort, shortness of breath, coughing, cyanosis (a bluish discoloration of the skin due to diminished oxygen), and low blood pressure. If you have had an allergic reaction to Cerezyme, you and your doctor should use caution if you continue to receive treatment with Cerezyme.
High blood pressure in the arteries of the lungs (pulmonary hypertension) and pneumonia have been observed in less than 1% of patients during treatment with Cerezyme. These are also known complications of Gaucher disease regardless of treatment. If you experience symptoms such as shortness of breath or chest pain, with or without fever, contact your doctor.
Approximately 14% of patients have experienced side effects related to treatment with Cerezyme. Some of these reactions occur at the site of injection such as discomfort, itching, burning, swelling or uninfected abscess. Other side effects, each of which was reported by less than 2% of patients, include nausea, abdominal pain, vomiting, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and rapid heart rate. Temporary swelling in the legs has also been observed with drugs like Cerezyme.
Please see Full Prescribing Information (PDF).