Leah Zaretsky, a Master’s Candidate in Genetic Counseling at Mt. Sinai, composed the below post. Leah shares the research findings from her thesis study survey entitled Knowledge and Attitudes of Parkinson Disease Risk in the Gaucher Population. View her presentation here. This presentation is property of Leah Zaretsky and no portion should be used without her permission.
Where were you when you first learned of the increased risk of developing Parkinson disease? Were you chatting with a friend, doing research online, or visiting your health care provider? Were you newly diagnosed with Gaucher disease or experiencing symptoms of Parkinson disease? If you could go back in time, do you wish you could have found out another way? These are just some of the questions we sought to answer with our survey entitled “Knowledge and Attitudes of Parkinson Disease Risk in the Gaucher Population.” Thanks in part to your participation, we are closer to understanding current counseling practices and ways in which they can be improved. Read on to find out more!
NGF members and patients at the Icahn School of Medicine at Mount Sinai, totaling 125 individuals with Gaucher disease over the age of 18, completed our 24-question survey.
Our participants were, on average:
- 55 years old;
- female (56%);
- white (including Eastern European and Ashkenazi Jewish);
- from the Northeast; and
- well educated (college degree or higher).
Regarding Gaucher disease in our participants, the average age of Gaucher disease diagnosis was 31.5, around 80% reported that they receive treatment for Gaucher disease, and most are followed in a large hospital setting. Most participants reported no personal or family history of Parkinson disease (54%) or Lewy body dementia (66%).
How many of our participants knew about the increased Parkinson disease risk before taking the survey? Considering the availability of information on the association between Gaucher disease and Parkinson disease, you might expect this number to be close to 100%. Surprisingly, 20% of our participants reported no previous knowledge of the risk, suggesting they were either never counseled on the increased risk or had forgotten about the association. For those who previously knew of the risk, around 60% learned of the risk either from their Gaucher doctor or from the NGF. Most (70%) reported learning of the risk sometime after their Gaucher disease diagnosis rather than at the time of diagnosis.
Ideal Way and Time to Learn of Risk
Now that we know how and when our participants found out about the increased Parkinson disease risk, what are their thoughts on the ideal way and time to find out? An overwhelming majority (83%) of participants reported they would like to learn of the increased risk from a health care provider, and most (70%) would like to learn of the increased risk at the time of Gaucher disease diagnosis. Even though symptoms of Parkinson disease typically don’t present until age 50 or older, only 13% of participants answered that they would like to learn of the increased risk after age 50.
For our knowledge-based questions, 73% of participants correctly answered that the risk of developing Parkinson disease for individuals with Gaucher disease falls between 5–15%, while 59% correctly answered that the average age that Parkinson disease symptoms present in individuals with Gaucher disease falls between 40–60. Most participants (51%) were unsure if treatment for Gaucher disease will reduce the risk of developing Parkinson disease, while 32% answered correctly that it will not. We asked about conditions known to be associated with Gaucher disease. A vast majority (92%) of participants knew about the association with osteoporosis, while 37% knew of the association with multiple myeloma.
Our study reinforces the idea that health care providers should counsel individuals with Gaucher disease on the increased risk of developing Parkinson disease, including details regarding risk and age at onset, and should do so at the time of Gaucher disease diagnosis. The next time you see your doctor, take a moment to ask about his or her counseling practices. Encourage your doctor to share information about the increased risk of Parkinson disease with all adult individuals with Gaucher disease. After all, a knowledgeable Gaucher disease population is a powerful Gaucher disease population.