Ever heard of Haw River Syndrome?

Because High Point is a smaller hospital, I am not on specific rotations. However, each of the four dietitians generally focuses on several specific disease states, simply because of which floors they work on. The past two weeks I have been with the dietitian who mainly sees renal patients, diabetic patients, pregnant patients, and the elderly. Today, interestingly and sadly, we had a patient who has Haw River Syndrome. Never heard of it? That is probably because it affects 1 family in North Carolina. I cannot find any other documented cases in the U.S. Some research says it also known as DRPLA and is found in Japan. Yet other research says that even though the genetic mutations are similar between DRPLA and Haw River, the diseases are not the same nor are the symptoms. In brief, it is a genetic disease that has struck 5 generations of one family in NC (there is a PubMed article about this family and the disease as well as a few other news-related articles). It is a degenerative disease that has characteristics similar to Huntington's but with many more complications. In many of the family members the symptoms did not begin until the individual was in his/her 20s or 30s and by then had children and passed on the mutation. My patient is only in his 50s yet has spent the greater part of this adult life in a nursing home, having lost most of his ability to control his muscles. He is tube fed, has a trach, and is 54% his body weight. He responded to me, very slowly and simply. No one is sure how long that will last for him. Needless to say, this patient and the family have an interesting and difficult road ahead of them in addition to their difficult past.