Living With Gaucher’s Disease

As an autosomal recessive inherited genetic disease, Gaucher’s disease affects the metabolism where a type of lipid (or fat) called glucocerebroside can’t be properly broken down. Normally, the human body produces an enzyme called glucocerebrosidase that breaks down and recycles glucocerebroside, which is a portion of a cell membrane. The results are specific lipid build up in the spleen, bone marrow, liver and nervous system and it interferes with normal functioning.

Type Of Gaucher’s Disease

There are three different types of this disease and each has its own unique range of symptoms. Type 1 is the most common form and it doesn’t affect the nervous system and the onset can occur early in life or in adulthood. Many people with Type 1 have symptoms so mild they never experience any issues. Types 2 and 3 do occur in the nervous system. Type 2 results in medical problems beginning in infancy, while Type 3 progresses more slowly. There are also rarer types harder to categorize within these three types.

What Are The Symptoms?

The symptoms of the disease will vary among those who have it. The most common clinical symptoms include:

• Bone pain, fractures and disease
• A low red blood cell count (anemia)
• An enlargement of the liver and spleen
• Easy bruising that’s caused by low platelet levels
• Heart, respiratory and nervous system issues

The symptoms of Type 2 and Type 3 include the same ones featured with Type 1, but there are other issues involving the eyes, seizures and brain damage. Those diagnosed with Gaucher’s Type 2 normally will not survive past their second birthday. There are some with Type 2 that will die during infancy, often with severe skin issues and fluid accumulation. People with Type 3 will generally develop symptoms before the age of 2, but often the disease progresses more slowly and the extent of brain development is unpredictable.

How Is It Diagnosed?

A doctor will order a blood test to measure the level of the enzyme glucocerebrosidase. People who have the disease will have extremely low levels of this enzyme. A second type of laboratory tests will involve a DNA sample analysis of the GBA gene for the most common type of mutations. Both enzyme and DNA tests can be done on babies before birth. However, a bone marrow test might not be enough to establish a definitive diagnosis.

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How Is Gaucher’s Disease Inherited?

Being an autosomal recessive genetic disorder, means both parents of a child must be carriers of the gene in order for Gaucher’s disease to be passed on. Although it can affect anybody, it is most prevalent in those of Jewish descent. It is the most common of all inherited Jewish rare genetic disorders, approximately 1 in 450 people have Gaucher’s and 1 in 10 are carriers of the gene.

What Kind of Treatment is Available?

The type of treatment a person receives will depend on what type of Gaucher’s they have. One of the most prevalent ways of treating the disease is through enzyme replacement therapy. This type of treatment helps those with Type 1 and some individuals with Type 3. It helps the body produce more red blood cells and shrinks an enlarged liver or spleen. The medications used in enzyme replacement therapy include; Velaglucerase alfa, Taliglucerase alfa and Imiglucerase.

The medications Eliglustat and Miglustat are also treatment options available for Type 1. These drugs might curb the body’s process that forms the fatty materials in those with an enzyme deficiency.

There are no treatment options that can stop or slow Type 3 from damaging the brain. However, here are other treatments that can help manage the symptoms and these include:

• Surgical removal of an enlarged spleen
• Blood transfusions to treat anemia
• Medications to help make bones stronger and prevent fatty buildup and pain management
• Joint replacement surgery for better mobility
• Stem cell transplant to reverse Type 1 symptoms. This procedure is very complicated and not without risks, it can cause both short and long-term issues, so it’s not frequently used.

What Can A Person Expect As The Disease Progresses?

As Gaucher’s disease progresses, each person can expect their symptoms to be different. The most important thing is to work with your physician and possibly a team of specialists to ensure you are getting the best care. Treatment could alleviate the symptoms of the disease, but there is currently no cure.

Researchers are working on finding new and better treatments to help those suffering with Gaucher’s disease. You may wish to see your doctor to find out about the opportunity to become involved with a clinical trial.

Children with Gaucher’s may not grow as quickly as other children, they may even reach puberty at a later date than their peers.

Some people with Gaucher’s disease have extreme pain and fatigue. Those with severe symptoms may not be able to live independently and could require live-in assistance from a caregiver.

Whether you have recently been diagnosed with Gaucher’s disease or are taking care of someone who has it, it is very hard to manage it.The support of others who are faced with the same diagnosis and challenges that you could be facing, might help you feel less isolated and could be a valuable resource of information.

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Some people with Gaucher could benefit from counseling, because it can help in managing emotions, frustrations and fears. If counseling is not something you’re considering, you may want to think about contacting the National Gaucher Foundation. The organization has a mentor program that may help you get in touch with others who can share experiences and give you good feedback and ideas to make your life easier.