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Gaucher Disease

Read about the rare and genetic disorder Gaucher, from people who are living with it.

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What is Gaucher disease?

Gaucher disease takes on a different meaning to every patient. For Virginia, the disease means she’s had experiences that give her a different point of view on life. For Monica, Gaucher means she’s able to help others in comparable situations:

“I don’t think that I should hide just because I suffer from this disease.”

Gaucher Disease - Early Diagnosis



Medically speaking, Gaucher disease is a rare genetic disorder caused by the lack or complete absence of an enzyme used to break down waste substances.1 It’s an inherited disease, so Gaucher patients often find that someone else in their family has the disease or is a carrier.

A ‘carrier’ is a person who has one defect gene out of the two that produce enzymes. The other gene works and therefore the person will not develop the disease symptoms.

An affected person is someone who has both genes affected and are therefore are either not producing the correct enzyme or aren’t producing any at all and therefore will develop the symptoms of Gaucher disease.

The diagram below demonstrates the genetic nature of this disease:2

Gaucher Family Tree

Are there any signs and symptoms of Gaucher disease? If so, what are they?

Gaucher symptoms vary widely, and along with its rarity, it can be challenging to diagnose. Virginia was eight when her aunt noticed her growth was slowing down, and that her liver and spleen were enlarged.

Because Gaucher patients don’t have the enzyme that breaks down the fatty waste molecules, they build-up. This can cause an enlarged liver and spleen, which is one key symptom.3 These waste molecules can also accumulate in the bones, causing problems.4 Here are some other signs and symptoms of Gaucher disease:

Gaucher Cause & Effect

So, how is Gaucher diagnosed?

Luckily, a simple blood test can diagnose Gaucher. Experts use the blood sample to check enzyme levels and a DNA analysis may take place to confirm the diagnosis.9,10 We’ve learnt from patients that diagnosis can feel like a relief as it gives them the opportunity to learn more about their symptoms. Many patients also live a very normal life with the disease, Virginia demonstrates this wonderfully:

“Gaucher simply became a normal part of our lives, and it has always kept our family very close.”

Gaucher Disease - Virginia's Story



Virginia and Monica’s approach to life with Gaucher disease is incredible, and our aim is for all patients to feel like this. But to make that possible, the world needs to know about this disease. Let’s make this happen together.

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I think my diagnosis has allowed me to have experiences that give me a different point of view and an added layer of understanding.

Gaucher Stories - Virginia



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Everyone living with a rare disease has a story to tell. Whether it affects you directly or you’re a friend, colleague, family member or healthcare professional, we all have our own challenges and ways with dealing with them.

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