Better known as Gaucher disease or just Gaucher (pronounced go-SHAY) it is a genetic disease that impacts the inner organs such as the heart and lungs. According to the National Gaucher Foundation, 1 in every 40,000 babies will develop Gaucher. Gaucher is also classified as a lysosomal storage disorder. That means the body builds up a dangerous load of certain chemicals that in healthy bodies can break down into non-harmful chemicals.
People with Gaucher lack the enzyme glucocerebrosidase (or GBA). Just a single gene mutation causes the disease but both parents need to have this gene mutation in order for their children to have the disease. For an unknown reason Ashkenazi Jews are most prone to getting Guacher.
There are five types of Gaucher disease. Each has different symptoms.
Types 2 and 3 or neuronopathic Gaucher impact the central nervous system. Patients have all of the symptoms as Type 1 in addition to seizures, uncontrollable eye movements and brain damage.
Type 4 is also called perinatal lethal Gaucher and as the name suggests, it is the worst type of Gaucher one can have. Newborn infants are affected and die in less than a week but usually are born dead.
Type 5 is also called cardiovascular type Gaucher because it impacts the cardiovascular system. Symptoms include hardening of heart valves, spleen enlargement and are prone to eye problems and bone diseases.
Gaucher’s disease is a rare genetic condition that may affect a person with a wide array of symptoms, varying from weak bones, bruising, certain cancers, Parkinson’s disease, etc. People with Gaucher’s suffer from low levels of GCase, which is an enzyme that helps break down glucocerebroside, and resultedly the body is not able to process lipids correctly.
Gaucher’s is caused by a recessive mutation of the GBA gene located on chromosome 1. A carrier of this genetic mutation can pass on a defective gene and not be affected by the disease. Since this disease is passed through generations by inheritance, both parents must possess a mutated gene for their offspring to suffer from Gaucher’s. Even then, the offspring only has a 25% chance of suffering from the disease, and another 25% chance of not being affected or being subject to carrying the genetic mutation. Gaucher’s disease is classified into three types, with type 1 being the most common and treatable, type 2 which can be fatal within the first two years, and type 3 which is a combination of the two previous types.
Types 1, 2, 3 and 5 are treated with an IV bag of enzymes to replace those that their bodies cannot make. They need a bag every two weeks. Patients may also be given a more convenient pill to help their bodies get rid of dangerous chemical buildups. This type of treatment is called substrate reduction therapy or SRT.
Other treatments address specific symptoms an individual may have. A Guacher patient with anemia may need a blood transfusion, for example, in addition to enzymes and SRT.
There is no cure for perinatal lethal Gaucher disease.
As of now, there is no known cure and scarce prevention options for Gaucher’s disease. Being that it is passed through genetic inheritance, there are only certain treatments that a person affected by this mutation can receive. Prenatal DNA testing may be performed if there is history of Gaucher’s disease in the family. Patients are recommended to speak with genetic counselors before and after testing. These specialists can inform parents on the various risks of having a child with this genetic mutation, as well as weighing the pros and cons of different genetic testing and their limitations. It is important for a family to understand the possibility of children having Gaucher’s disease, as health complications (such as miscarriage) do arise from performing the necessary tests to determine whether or not a child that is still in utero will carry this gene.