Gaucher's disease is the most common of the lysosomal storage diseases. It is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as acid β-glucosidase). The enzyme acts on a fatty substance glucocerebroside (also known as glucosylceramide). When the enzyme is defective, the substance accumulates, particularly in cells of the mononuclear cell lineage. Fatty material can collect in the spleen, liver, kidneys, lungs, brain and bone marrow. Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may be painful, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the white of the eye (sclera). Persons affected most seriously may also be more susceptible to infection. The disease is caused by a recessive mutation in a gene located on chromosome 1 and affects both males and females.
Around the age of 8 months Camdyn and Camryn were diagnosed with an enlarged spleen during a routine check up with their peds doctor. After an ultrasound proved that their spleens were several times larger than what they should be both of them were sent to LA Children's hospital to see a genetics doctor. After multiple tests and no answers we were confused with what was going on with our sweet boys. Then in July 2013, during another peds examination our doctor noticed that both boys not only had enlarged spleens but their liver was enlarged too. Once again we were sent to a Genetics team but this time we went to UCLA Children's hospital. That following Monday Camdyn and Camryn were admitted into UCLA for Liver biopsies and bone marrow biopsies. Two weeks later we got a call from the doctor with the worst diagnosis we could ever imagine. Both of the twins were diagnosed with type 2 Gaucher Disease. Some of the symptoms Camdyn and Camryn have are enlarged spleen, enlarged liver, anemia, failure to thrive, global developmental delay, low white blood cells, low platelets, laryngospasms, swallowing difficulties ( in which now they both have jtubes), breathing difficulties and abnormal eye movements. Camdyn and Camryn are both currently receiving enzyme replacement therapy which will help reduce the size of their spleens and liver but it does not cure the disease nor does it stop the neurological symptoms. There is not a cure for Gaucher Disease and type two children typically do not live past three years of age. Not too many people are aware that this type of disease even exists. Thank you for liking, sharing and supporting our page! Please continue praying for our baby boys as they battle this horrible disease.