People living with Gaucher disease often report experiencing many challenges just to get the right diagnosis. Then there’s the next hurdle: Getting a treatment plan that meets their needs. But the right specialist can make the experience as smooth as possible.
Many physicians have never worked with a person who has this rare disease. It can be difficult to obtain a diagnosis because the disease is rare and the symptoms are similar to those of many other medical conditions. And even when a positive diagnosis is made, a physician’s lack of experience with the disease often leads to uncertainty in guiding treatment decisions.
A Gaucher Specialist Guides Your Care
Fortunately, there are physicians who specialize in Gaucher disease, helping you receive an accurate diagnosis, understand what having Gaucher disease means for you and your family, and decide on a personalized treatment plan. NGF has created a treatment finder to help connect you with these professionals quickly.
Why a Gaucher Specialist Is a Critical Member of Your Care Team
Gaucher disease is a rare disorder: Among general populations, it affects 1 person out of every 40,000. For people of Ashkenazi Jewish descent, the incidence of Gaucher disease, or how often the disease occurs, is much higher. According to current data, Gaucher disease is the most common genetic disease affecting Ashkenazi Jews. 1 in 10 Ashkenazi Jews is a carrier for Gaucher disease, and the disease affects 1 out of every 450 people with two Ashkenazi Jewish parents.
However, despite the prevalence of Gaucher disease within Ashkenazi Jewish communities, it is still considered a rare disorder. It is challenging to find physicians with a thorough understanding of the disease who can make a correct diagnosis and guide treatment.
The Role of the Gaucher Specialist
That’s where the Gaucher specialist comes in. Dr. Neal Weinreb, a specialist at the University of Miami UHealth Sylvester Cancer Center, Coral Springs, is a member of the North American Scientific Advisory Board of the International Collaborative Gaucher Group. He explains that the role of the Gaucher specialist is to:
- Help establish the diagnosis
- Explain the significance of Gaucher disease gene mutations
- Advise what, if any, treatment is recommended
- Establish a plan for regular follow up with comprehensive testing and assessments
- Counsel the patient throughout their treatment journey
- Coordinate treatment efforts
- Educate other members of the treatment team about Gaucher disease
Tailoring Treatment Decisions for People With Gaucher Disease
Dr. Weinreb explains: “There are some people who don’t need to be treated, at least not immediately. Some may never need treatment. But a physician with experience treating Gaucher disease needs to help make these decisions. A Gaucher specialist understands the nuances of deciding if the disease will progress and the person should receive treatment – or if the person can be followed throughout their life without treatment.”
Beyond Treatment: The Other Roles of a Gaucher Specialist
“The specialist is an educational resource for physicians and other people outside the medical community,” says Dr. Weinreb. A Gaucher specialist often:
- Meets one-on-one with other physicians
- Attends community meetings with physicians and patients interested in Gaucher disease
- Speaks at regional or national meetings to share insights into the disease
- Participates in new clinical trials both as an investigator and as an advisor
Additionally, Gaucher specialists help connect people with Gaucher disease to experts in other fields of medicine, like orthopedics. Because Gaucher disease affects so many aspects of a person’s life, specialists also act as:
- Genetic advisors, usually in conjunction with other expert genetic counselors
- Supervisors of and resources for clinical trial study coordinators
- Liaisons between the patient and treatment team, helping patients better understand their treatment options and letting the team know each person’s specific wishes
What Makes Someone a Gaucher Specialist?
There is no set of standards the medical community uses to designate a physician as a Gaucher specialist. There is also no certification board. However, these specialists typically demonstrate that they meet certain criteria, including:
- Working in specialized fields of medicine, like hematology, orthopedics, genetics, or pediatrics where Gaucher disease patients are most likely to be diagnosed and followed
- Currently working with at least 10 people living with Gaucher disease
- Having a focused interest in the disease for 5 years or more
- Having authored or coauthored research papers on Gaucher disease
- Providing proof of advocacy for people living with Gaucher disease
NGF Helps Connect People With Gaucher Specialists
NGF’s treatment finder can help you locate and connect with healthcare providers specializing in Gaucher disease management. People can easily search for physicians by specialty, last name, or geographic location. Finding a Gaucher specialist is as simple as typing in your zip code.
“NGF should be your first point of contact. While NGF doesn’t refer people to specific providers, they can put you in touch with healthcare professionals, who may be a good starting point for connecting with Gaucher specialists in your community,” says Dr. Weinreb.
- Gaucher Disease. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=355
- National Gaucher Foundation. The 5 Most Common Ashkenazi Genetic Diseases. https://www.gaucherdisease.org/blog/5-common-ashkenazi-genetic-diseases/
- National Gaucher Foundation. Creating a Comprehensive Care Team for Gaucher Disease. https://www.gaucherdisease.org/gaucher-diagnosis-treatment/treatment-team/
- National Gaucher Foundation. Treatment Finder. https://www.gaucherdisease.org/gaucher-diagnosis-treatment/treatment-finder/