Doctors and scientists have already made tremendous progress in the diagnosis and treatment of rare diseases, including Gaucher disease. However, many patients and families still experience a significant psychosocial burden. Often, those living with the disease must become their own “disease experts” as they navigate the healthcare landscape, deal with significant financial challenges, and learn how to cope with the range of emotions that come with a rare disease diagnosis.
If you have Gaucher disease, this can be a frustrating and upsetting process. Wayne Rosenfield, PhD, knows the struggle patients face all too well – he was diagnosed with Gaucher disease after 10 years of testing, misdiagnosis, and attempts at symptom management. Learning to live with a rare disease like Gaucher disease can be a challenge.
“There is the initial shock of diagnosis of something that’s really foreign and quite unknown,” says Rosenfield. “Then, there’s the fear of what’s going to happen – there’s the feeling of always being in jeopardy, that something could happen at any moment. The inability to predict what’s going to happen next is the most anxiety eliciting part of this.”
Limited Physician Knowledge Goes Hand-in-Hand with Gaucher Disease
Throughout his experience with Gaucher disease, Rosenfield has often found it difficult to connect with healthcare providers who are familiar with the condition. He first began to show Gaucher disease symptoms – an enlarged spleen and frequent nosebleeds – when he was just five years old. However, he didn’t receive a formal diagnosis until age 15. By that time, Rosenfield had already gone through years of treatment trying to manage his symptoms, along with various types of medical tests that led to significant, and alarming, misdiagnoses.
“When I was 10, my lab work suggested I had leukemia, or some kind of infection…it was clear something was going on, but the puzzle pieces weren’t coming together. In retrospect, this was a Gaucher bone crisis. I didn’t have leukemia. But everybody with Gaucher goes through this, and many of us were told, at some point in our history, that we had leukemia,” says Rosenfield.
Unfortunately, it’s common for doctors unfamiliar with Gaucher disease to misdiagnose the condition. In many cases, the only familiarity a physician has with the condition is hearing about it in medical school. In your own experience, you may have encountered doctors who know about Gaucher disease, but their knowledge is limited. Unfortunately, this lack of awareness causes a delay in diagnosis, and many people wait years, even decades, for doctors to recognize their illness.
According to one study, as many as 80 percent of hematologists and oncologists fail to even consider Gaucher disease as a diagnostic option, even when a patient is experiencing multiple symptoms of the illness(1), many of which mimic other medical conditions. “Doctors don’t want to miss a rare disease, but there are so many symptoms a doctor has to consider. How do you decide what’s going to be important? It’s not an easy task,” says Rosenfield.
Building a competent care team is critical to your health because effective treatment can help control symptoms, dramatically improve quality of life, and enhance outcomes. The NGF has created a treatment finder to allow you to easily search for healthcare providers by specialty, last name, or geographical location. You also have the option of searching NGF’s comprehensive list of treatment centers nationwide, featuring information about the services each center offers and the specialists who work there, including Gaucher disease specialists and genetic counselors.
Resources for Building a Care Team
- National Directory of Psychologists
- National Directory of Psychiatrists
- National Directory of Social Workers
The Financial Aspect of Dealing with Gaucher Disease
For many patients, the cost of a rare illness like Gaucher disease can be astronomical. Often, patients undergo more frequent diagnostic testing in an attempt to correctly identify their illness, and these tests are typically more expensive than other standard evaluations. Testing and symptom management usually involves trips to specialists, and patients can incur greater expenses due to higher copays and travel costs. Also, due to the emotional burden of Gaucher disease, many people require mental health support, which may not be covered by insurance.
In the United States, 55 percent of the population living with a rare disease, like Gaucher disease, incur medical expenses not covered by insurance during the course of their diagnosis and treatment(2). For Gaucher patients, part of this expense involves enzyme replacement therapy (ERT), which while extremely effective in managing the illness, can also be very expensive depending on a person’s insurance coverage. Over 50 percent of people with rare diseases use their personal savings to help pay for medical expenses, and as many as 23 percent are forced to dip into retirement savings during the course of their treatment(2).
To help minimize the financial impact of Gaucher disease, NGF has developed two programs – CARE and CARE+ – to help you pay for Gaucher disease-related medical expenses. The CARE program is available to help qualified patients and families pay for insurance premiums, while the CARE+ program offers help with certain out-of-pocket expenses, like travel costs and over-the-counter medications, that are usually associated with treating Gaucher disease.
To qualify for either of the CARE programs, you must demonstrate extraordinary financial hardship as a result of living with Gaucher disease. The first step in applying for financial assistance through the CARE program is the completion of an online application. If you are interested in assistance through the CARE+ program, please contact the National Gaucher CARE Foundation at 301-900-1053 or toll free at 800-504-3189.
Gaucher Disease’s Emotional Toll
Perhaps the most significant consequence a diagnosis of Gaucher disease is the emotional toll the disease takes. As many as 69 percent of people living with rare diseases, including Gaucher disease, report experiencing depression(4). Up to 91 percent of patients worry about how the disease will affect their future (4).
Often, the family members of people with Gaucher disease feel confused and uncertain. They may have many questions about the condition, and they worry about passing along the genetic mutations for the disease to their children. Concern over carrier status and genetic testing can shake families to their core.
“My family had a lot of questions. My cousin found out she had the mutation, and then she found out her husband had it. She called me and was absolutely panicked – she already had two sons, and what if they had Gaucher disease? She was remembering my experience, and was terrified about what could happen to her children,” says Rosenfield.
Because the disease is so rare, many people with Gaucher disease have lived in relative isolation, unable to find and connect with others who share the same genetic condition. Until recently, it was uncommon for one person with Gaucher disease to know anyone else with the same condition. “I was in my early 30s before I finally met someone else with Gaucher’s,” says Rosenfield.
However, the Internet continues to make it easier for people with Gaucher disease to connect with other patients and healthcare providers familiar with the condition. People living with Gaucher disease can be far flung geographically, but it’s now more possible than ever to connect with others who share the same experience.
“One of the greatest things we can do for each other is be connected with each other,” says Rosenfield. “When people with Gaucher disease get together, even online, it feels almost like a class reunion. We’ve all been doing the same things. We’ve all had the same experiences, perhaps with bone pain or bleeding or doctors who haven’t seen a case of Gaucher’s. We’ve all had similar experiences, and we bond quickly.”
A connection to others who know what you’re going through and can relate to your situation can help ease the emotional hardships you may face while living with Gaucher disease. If you’re looking for ways to meet other people with Gaucher disease, NGF has collected information on many support groups and other resources, including the Gaucher disease Facebook group and the Yahoo Gaucher disease discussion group.
For young people living with Gaucher disease, meeting others with the same condition can be a particular challenge. Often, children who have the condition and their siblings feel isolated because they don’t know anyone else who experiences life as they do. Because of this, NGF has created the E-Pal Connections Program to help children living with Gaucher disease and their siblings meet and develop supportive relationships among their own peer group.
“Connect, connect, connect. Be in a community for Gaucher patients. Find a peer group. It’s easier now than ever to find Gaucher patients to talk to online – and those connections can be enormously helpful when you’re battling a rare disease like Gaucher’s,” says Rosenfield.
- Mistry P, et al. Consensus Conference: A reappraisal of Gaucher disease – diagnosis and disease management algorithms. American Journal of Hematology. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058841/.
- Rare Disease Impact Report: Insights from patients and the medical community. Shire. https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf.
- Graf von der Schulenburg J.-M., et al. Rare is frequent and frequent is costly: rare diseases as a challenge for health care systems. European Journal of Health Economics. http://bit.ly/2uIYVVt
- Nunn R. “It’s not all in my head!” – The complex relationship between rare diseases and mental health problems. Orphanet Journal of Rare Diseases. https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0591-7.