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Feel free to jump down to the medical description of this condition below but also, get in community to learn more. Please utilise the groups below if you have not already had access to a support system amongst your journey of understanding Gaucher Disease:
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Medical Information about Gaucher Disease:
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As a team, none of us ARE doctors; however we work with some amazing medical professionals that have given us more insight below. Please continue reading and use the information to navigate your own personal journey or share with anyone you may know may benefit.
Gaucher Disease is a rare genetic metabolic disorder which involves the deficiency of glucocerebrosidase enzyme which causes the accumulation of particular fats or lipids at harmful quantities. The most common among them is glycolipid glucocerebroside all over the body particularly within the liver or bone marrow. The disease in your child is caused by mutation in the GBA gene and is the most common kind of lysosomal storage disease. Your child might have one of the three types of Gaucher disease:
Type 1 Gaucher disease
It is also called as non-neuronopathic Gaucher disease because of not involving the central nervous system and is the most common type of Gaucher disease. This type would only affect your child’s spleen, bones, blood and liver.
Type 2 Gaucher disease
It may also be called “Acute Neuronopathic Gaucher Disease” because it involves neurological complications and occurs in infants and new-born babies. Glucocerebroside is accumulated in the brain abnormally and results in an enlarged spleen. Your child with this type of Gaucher disease would pass away within the first few years of life.
Type 3 Gaucher disease
It may also be called “Chronic Neuronopathic Gaucher disease.” This type occurs before the age of ten years and results in organs and bones deformities and neurological complications.
Your child with any one of the above-mentioned types of Gaucher disease might have following symptoms:
You should consider a diagnosis for Gaucher disease if your child is suffering from unexplained anaemia and bruising with enlarged liver or spleen. However, the clinical evaluation confirms the diagnosis which involve:
Treatment and management
There is no cure for Gaucher disease however treatment depends on what type of Gaucher disease does your child have. The available treatments involve
If your child has type 1 Gaucher disease, then it can be managed leading to improved life with the help of treatments. With type 3, your child could live to their 20s or 30s. However, with type 2, the child could pass away within the first three years.