Creating a Gaucher Disease Treatment Team

Treating Gaucher disease (pronounced go-SHAY) is a complex task requiring specialized expertise. Your primary care physician plays an important role, but it is also critical that you see a Gaucher specialist regularly.

Who Should Be on Your Treatment Team for Gaucher Disease?

Because Gaucher disease occurs in just 1 in 40,000 live births, many primary care physicians and specialists are unfamiliar with Gaucher disease or how to treat it. Working with a Gaucher specialist ensures you have an expert monitoring key health markers to ensure your optimal health. The good news is that many patients only need to see a specialist once a year.

Depending on your needs, you may also need to see additional specialists to keep you in optimal health. Some of the people you may want to have on your Gaucher disease treatment team include:

  • Gaucher specialist: It is critical that a Gaucher specialist is part of your treatment team. Few doctors exclusively treat patients with Gaucher disease because it is so rare, so this person may be a hematology, oncology, liver, genetic or orthopedic specialist.
  • Primary care physician (PCP): Your PCP plays a key role in coordinating your care with specialists.
  • Additional specialists: In addition to seeing a Gaucher specialist, you may need to see other specialists such as a hematologist, liver specialist, geneticist, orthopedist, neurologist or pain management specialist.
  • Supporting professionals: You may also want to add individuals such as a dentist, oral surgeon, physical therapist, dietician, genetic counselor and/or a social worker to your treatment team.

Finding a Gaucher Specialist

Because few physicians work exclusively with patients who have Gaucher disease, it is not always clear who is a Gaucher specialist.

A Gaucher specialist will generally meet some or all of the following criteria:

  • Works in a specialized field such as hematology, orthopedics, genetics or pediatrics
  • Currently has 10 or more active patients with Gaucher disease
  • Shows a focused interest in Gaucher disease for 5 or more years
  • Authors or coauthors research papers on Gaucher disease
  • Has a track record of advocacy for Gaucher disease patients

When choosing a Gaucher specialist, patients often consider symptoms and the doctor’s specialty, in addition to geographic proximity. You can locate a specialist or find a treatment center using our Gaucher disease treatment finder.

Primary Care Physician (PCP) for Gaucher Disease

While a PCP cannot provide the same care as a Gaucher specialist, your PCP plays an important role in your treatment.

Your PCP can help:

  • Coordinate your treatment plan among the specialists you see
  • Ensure that any drugs prescribed to you do not interact negatively
  • Track your bone density in coordination with your Gaucher specialist
  • Diagnose and detect other issues related to Gaucher disease, such as gallstones and gallbladder disease

Specialists for Your Treatment Team

You may want to see additional specialists who can help track specific symptoms and disorders related to Gaucher disease.

Possible specialists to add to your treatment team include:

  • Hematologist
  • Liver specialist
  • Orthopedist
  • Genetic counselor or geneticist

Hematologist

A hematologist specializes in treating blood disorders. A hematologist can help track blood counts and monitor for blood conditions related to Gaucher disease, including:

  • Clotting disorders
  • High or low blood iron levels
  • Rare complications such as myeloma or other blood cancers

Learn more about Gaucher disease and associated conditions.

Liver specialist

A liver specialist can be an important member of your team because the liver is one of the organs most often affected by Gaucher disease.

A liver specialist can help with early detection of problems such as:

  • Liver fibrosis and cirrhosis: Liver fibrosis (scarring) occurs when your liver tries to repair itself. Extensive fibrosis leads to cirrhosis, which develops when the liver cannot function properly.
  • Portal hypertension: Portal hypertension is high blood pressure in your portal vein, which transports blood to the liver. This condition can result from something blocking blood flow, such as scar tissue.
  • Esophageal and gastric varices: Esophageal and gastric varices are abnormally large veins in the gastrointestinal tract, often caused by portal hypertension. These conditions can cause life-threatening bleeding.

A liver specialist can also help diagnose conditions that include:

  • Gallstones and gallbladder disease
  • Hepatitis, which is not caused by Gaucher disease but is very common
  • Hepatocellular carcinoma (liver cancer)

Orthopedist

An orthopedist specializes in treating bone conditions, which are some of the main complications and symptoms of Gaucher disease. Orthopedic surgery for Gaucher disease bone complications requires special expertise.

An orthopedist can help repair fractures and deteriorated joints. Orthopedists also treat avascular necrosis (AVN), where bone tissue dies due to lack of blood supply.

Genetic counselor or geneticist

A genetic counselor can help answer your questions about family risks and act as a point person for coordinating your care.

Supporting Members on Your Treatment Team

  • Dentist: You may want to work with a good dentist who can coordinate with your Gaucher specialist as needed. Because Gaucher disease affects the bones, many patients also have dental problems related to bone and tooth hardness.
  • Psychologist or counselor: For adults or children struggling to cope with Gaucher disease, a mental health professional or counselor may be able to help. A social worker can help you coordinate with specialists, provide counseling, and answer questions about treatment, medications and financial assistance.

How the National Gaucher Foundation Can Help

If you need assistance finding a Gaucher specialist or additional support, the National Gaucher Foundation is here to help.

We offer several resources and tools to help you find what you need:

  • Finding a specialist: Check out our Gaucher disease treatment finder to locate a specialist and discover where the main Gaucher disease treatment centers are in the U.S. Our resources for Gaucher disease patients and families also include information on how to access subsidized or low-cost genetic screening resources.
  • Connecting with the Gaucher community: If you or a family member has Gaucher disease, you are not alone. Connect with others to get support and tips for living a full, vibrant life with Gaucher disease.
  • Financial support: Gaucher disease treatment can be very expensive. Learn more about financial support available through National Gaucher Foundation, including our CARE and CARE+PLUS programs. Other nonprofits such as the Patient Access Network, Patient Services, Inc. and NeedyMeds may also be able to help with the cost of medication.

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