Type 1 Gaucher disease

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What is type 1 Gaucher disease?

Gaucher disease is a rare genetic condition. It occurs when an enzyme called glucocerebrosidase (GBA) is missing or doesn’t work the way it should. The body is then unable to break down and recycle a type of fatty substance. This substance builds up in certain organs, mainly in the spleen, liver, bone marrow, and lungs.

Type 1 Gaucher disease symptoms

Symptoms can vary and can occur at any age. Some patients might not have symptoms until adulthood. Symptoms can include:

Blood

  • Low blood platelet count
  • Bleeding/clotting problems
  • Low red blood cells (anemia)

Organs

  • Enlarged liver and spleen
  • Lungs (breathing problems)

Bones

  • Bone pain
  • Bone loss and weakness
  • Higher risk for fractures (bone breaks)
  • Severe arthritis

Hear from people living with Gaucher disease

Discover inspiring real-life stories from others living with or caring for someone with Gaucher disease. Their journeys of self-discovery, full of purpose and grit, are sure to move you.

Finding support*

KnowGaucherDisease.com from Takeda offers information about Gaucher disease, such as symptoms, testing methods, treatment options, and more. You’ll also find downloadable guides, links to advocacy organizations, and patient testimonials.

Gaucher Community Alliance (GCA) is a non-profit organization for the patient community by the patient community. GCA’s mission is to support patients with Gaucher disease and their families through peer-to-peer support and education, advocacy, patient and family resources, and networking.

National Gaucher Foundation (NGF) helps support the Gaucher community through financial, educational, and research programs. Follow them for the latest information and explore the resources on their website.

National Organization for Rare Disorders (NORD) is a rare disease umbrella organization that provides advocacy, research, education, and patient services in the US. See how they help and find out how you can get involved.

*The above links are provided as a resource. This is not an endorsement, and Takeda has no control over the content of any website not owned by Takeda.

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Frequently asked questions

Call your OnePath Patient Support Manager (PSM) if you feel you need more training on taking your treatment. To connect with your PSM, call Monday through Friday, 8:30 AM to 8:00 PM ET, at 1-866-888-0660.

OnePath specialists are here to help answer questions about your condition and your Takeda treatment plan. Your Patient Support Manager (PSM) can connect you with one of these specialists. Call us Monday through Friday, 8:30 AM to 8:00 PM ET, at 1-866-888-0660. You should also speak with your healthcare provider if you have specific questions about your health.

If you’ll be traveling with your Takeda medication, your dedicated Patient Support Manager (PSM) can help you prepare. Call your PSM as early as possible, at least 2-3 weeks before your trip. Your PSM can:

  • Put you in touch with your specialty pharmacy to discuss your travel plans. Your SP can:
    • Work with you to have extra medication shipped to you before you travel
    • Have your medication shipped to your destination
    • Help locate a site of care if your treatment must be given to you by a trained healthcare provider

Below you’ll find more tips you may want to consider when planning to travel with your medication:

  • Tell your healthcare provider about your plans. Follow any instructions they may provide you
  • Make a list of hospitals along your travel route and near your destination. Be sure to include their contact information
  • Always keep your treatment and supplies with you (if applicable). This includes storing these items in your carry-on luggage. That way, you’ll be able to use your items at any time on the way to your destination. Also, they’ll be better protected against temperature changes, rough handling, or loss
  • Pack extra medication just in case you experience a travel delay
  • If you’ll be flying, call your airline before the trip. Ask if it would be possible to keep your medication refrigerated during your flight, if applicable
  • Call the Transportation Security Administration (TSA) at least 72 hours before traveling. It can let you know what to expect at security checkpoints and if there are any special instructions you’ll need to follow. You can call the TSA toll-free at 1-866-289-9673 or visit them online here
  • When going through security, carry a copy of a travel letter describing your condition and the need for your medication
  • Always wear a medical ID bracelet or carry a medical ID card with you
  • Make sure to have all medication, supplies, and medical devices clearly labeled

If you have questions, speak with your Patient Support Manager (PSM). To connect with your PSM, call us Monday through Friday, 8:30 AM to 8:00 PM ET, at 1-866-888-0660.

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