Communicating a Friedreich's ataxia diagnosis sensitively
Sub Subramony, MD, discusses how to effectively and sensitively communicate a diagnosis of Friedreich’s ataxia to patients and their families.
About Sub Subramony, MD
Sub Subramony, MD, is a board-certified neurologist and neuromuscular medicine specialist at the Norman Fixel Institute for Neurological Diseases at University of Florida Health. He also serves as a professor in the University of Florida Department of Neurology with a joint appointment in pediatrics. His area of focus is genetic neuromuscular diseases, including Friedreich’s ataxia.
Transcript
With a diagnosis like Friedreich’s ataxia, it takes a lot of tact and empathy to deal with the child as well as the parents, if that is the case. Of course, imparting this diagnosis to a late-onset Friedreich’s patient with onset in their adult life is a little bit of a different matter.
It’s important, for example, to be aware of the degree of stress the parents face, also the child faces, and even the siblings. So, as with many genetic diseases and progressive diseases, these are literally family diseases, not individual patients’. The family has to be thought of as a unit and all support offered to them.
Of course, the Friedreich’s Ataxia Research Alliance is an enormous resource for families and children, adults with Friedreich’s ataxia. They have so much information. They do a lot of supportive services.
Interestingly, Friedreich’s ataxia remains one of the disorders that is within the context of the Muscular Dystrophy Association, even though Friedreich’s is not a muscular dystrophy. Traditionally, these youngsters have been seen in the MDA-supported clinics, and this is a very good resource as well.
The families, and again, need to be offered all kinds of supportive services, including advice regarding schooling, nutrition, physical therapy, and prevention of falls, general health matters, and also, of course, be told about specific consultations, like cardiology in particular, orthopedics as needed.
So these families need all the support that you can give them.
David Lynch, MD, PhD, is the director of the Friedreich’s Ataxia Program at Children’s Hospital of Philadelphia.