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International Gaucher Awareness Month

October is the “International Gaucher Disease Awareness Month”, and LDRTC would like to raise awareness of this rare condition that affects about 1 in 40,000 live births. 

This disorder changes the lives of many individuals and families worldwide, and we want to highlight the importance of early diagnosis and proper medical care in a timely manner. These two actions enable the affected patients and families to have a much more healthy and active life.

Most primary care physicians are not familiar with this rare disorder and how to recognize its various presentations. It is vital that you see a specialist, expert in Gaucher disease, who will guide you and your physician through your journey with this disorder. The expert will also monitor your health, and provide therapeutic options.

Dr. Ozlem Goker-Alpan, the Founder and CMO of LDRTC, has been treating Gaucher disease patients for 20 years. She has dedicated her time to conducting clinical trials and research to help patients live better lives. Together with her team, she develops a personalized treatment plan for each patient, aiming to improve their overall health. “The best advice I can give you, as a parent and a physician, is to seek help! You can live a much better life with the appropriate medical care and treatment!”

3 Types of Gaucher Disease

Symptoms:

Type 1:
 

The most common form of the disorder is more prevalent in individuals of Ashkenazi Jewish origin. It does not primarily affect the brain. This type has a  broad spectrum of severity and presentations. Some individuals may remain symptom free or develop only mild symptoms.

Most common symptoms include: Spleen and liver enlargement, bone problems, and fatigue. Swollen stomach, easy bruising, tiredness, bone pain, an easily broken bones, and nosebleeds.

Type 2:

It affects newborns and infants, and babies present with rapid neurological complications.

Symptoms include: Poor growth and development, crossing of the eyes, seizures, spasticity, jerking movements), low ability to suck and swallow, breath holding and cyanotic spells, enlarged liver and spleen.


Type 3: 

The severity of the organ involvement is more pronounced than Type 1 and 2, and children usually develop progressive neurological involvement.

Symptoms include: Significant enlargement of the liver and spleen in early childhood, failure to gain weight and growth, low platelets and anemia, slowing of the horizontal eye movements, cognitive problems, poor coordination,  respiratory problems. The bone disease is severe and progressive and may involve progressive spine deformities. If untreated, severe complications ensue due to bone, hematological and liver problems

Fast Facts

What is Gaucher Disease?

Gaucher disorder is an inherited disorder that results from a deficit of an enzyme responsible for breaking down a fatty acid substance within the organelles of cells, called lysosomes. Low levels of an enzyme (glucocerebrosidase) allow fat-laden Gaucher cells to build up in tissues like the spleen, liver, and bone marrow, resulting in inflammation, immune dysfunction and progressive organ involvement.

How to diagnose?

A simple blood test showing a low level of enzyme activity followed by DNA sequencing will help physicians diagnose the disorder.

What is the treatment?

Enzyme replacement and substrate reduction therapies are the most common treatments. More treatment options are in the pipeline, including gene therapy. Appropriate care and adjunct therapies will lead to the alleviation of symptoms and improvement of quality of life.

Number Affected in the US
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Quick Stats

Approximately 1 in 450 Ashkenazi Jews may be affected by Gaucher Disease

Men and women are equally affected by Gaucher Disease.

At LDRTC, we have helped hundreds of patients and families who had sought our advice
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Fairfax VA 22030

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