June

Gaucher disease is a rare, inherited genetic disorder caused by a deficiency in the enzyme glucocerebrosidase, which leads to the buildup of a fatty substance called glucocerebroside in the body

Gaucher disease is a genetic disorder that happens when the body doesn’t make enough of an enzyme called glucocerebrosidase. This enzyme’s job is to break down a fatty substance in cells. When it’s missing or not working right, the fat builds up inside certain white blood cells. These cells become “Gaucher cells” and start collecting in organs like the spleen, liver, and bones, causing damage. It’s passed down in an autosomal recessive way, meaning you need to inherit the faulty gene from both parents to have the disease.

At the cellular level, Gaucher disease causes fat to build up inside lysosomes, especially in white blood cells. These become oversized, dysfunctional Gaucher cells.

In tissues, these abnormal cells build up in places like the bone marrow and liver, where they cause inflammation, crowd out healthy cells, and affect how the tissue works.

In organs, the effects are more noticeable: the spleen and liver become enlarged, which can lead to pain and feeling full quickly. In bones, it causes pain, weakness, and even fractures. It also lowers blood cell counts, which can make you tired, bruise easily, or get infections more often.

How you can help:

• Donate to groups like the  National Gaucher Foundation to support patients and fund research

• Volunteer with rare disease organizations or at awareness events

•  Share and post to raise awareness. Many people haven’t even heard of Gaucher disease.

•  Support events like International Gaucher Day (October 1)

 Advocate for better access to testing and treatment, especially for rare diseases

Sources

• National Gaucher Foundation

• Mayo Clinic

• MedlinePlus Genetics

• Orphanet

• Verywell Health