"Diagnose and adios" ("adios" is the Spanish word for goodbye) is the description for Huntington's disease used by a prominant neurologist in a Medscape interview following the American Academy of Neurology (AAN) presentation of IONIS huntingtin protein lowering clinical trial.  The neurologist is the highly respected chairperson of the AAN scientific committee that chos at this prestigious conference.  In this interview she said it was exciting to have breakthroughs in Huntington’s because it is almost a “diagnose and adios" disease. In this same interview that was e-blasted to thousands of doctors, she went on to say that depression in HD is untreatable, This is simply untrue. Many neuropsychiatric symptoms of HD, including depression, are very definitely treatable.  Even at the top, there is lack of knowledge about what is treatable in HD. 

 

The Research-Medical Care Disconnect:  Further comments during the Medscape interview: Although it's still early days, she said the IONIS trial was chosen as one of the top studies presented because there have been so few options for patients with HD. "Having breakthroughs in this area is exciting to me as a neurologist.  Any time you look someone in the eye and they say 'Help me,' but you have nothing to offer, obviously there are some problems."

 

The HD community is grateful to this doctor and the committee that chose to feature the hopeful IONIS trials results. And no doubt this doctor meant no harm for HD families.  However, her "diagnose and adios" and "untreatable depression" description e-blasted out to thousands of general physicians about HD is both incorrect and disheartening.  Though this doctor is not an HD expert, she works at Massachusets General Hospital, a leading teaching hospital where there is a large HD Center of Excellence.  Even at this top-ranked hospital, non HD neurologists appear to be unaware that neurospychiatric symptoms in HD are treatable.

 

Why the lack of knowledge of HD Care? While we indeed don’t yet have a drug to slow down disease progression, HD experts believe we certainly do have drugs and other therapies that can treat depression and most other neuropsychiatric symptom complications. Unfortunately doctors are not taught about these treatments.  I believe this is because HD physician organizations and teaching hospitals focus on research, and provide relatively little professional education on medical care and optimal treatment of those with symptom complications in HD.  When doctors are not taught about treating HD, our HD families are the ones who suffer.

What can be done to improve HD Care Education for physicians and other medical providers? Though the Huntington Study Group provides medical education during their annual meetings and on their website, this reaches very few front-line medical care providers.  Similarly while the Huntington's Disease Society of America has published their Physicians Guide to Care in HD, few medical providers know how or where to access it.  

 

How can guidelines improve medical care?  Education about medial care can be provided in guidelines. Another proven way to improve care in many diseases is to have treatment guidelines. Experts use clinical trial evidence and expert experience to make best recommendations for in medical practice.  Guides are then published in medical journals that can easily be accessed by medical providers using web sites such as PubMed. When followed, guidelines have been central to improving the quality of care whether provided by specialists or generalists.

 

Though there is little evidence to inform best care in HD,  experts have developed guidelines for several neuropsychiatric complications and choreas based on their experience. These experts believe that neuropsychiatric and chorea symptom complications in HD are treatable. 

Three treatment guides have been available since 2011 for treatment of chorea (which is in need of an update), and for two neuropsychiatric symptoms including irritability and obsessive-compulsive behaviors.  These guides are posted on the Huntington Study Group site and at HDDW, WeHaveAFace and Help4HD.  Guides based on expert opinion for five more symptoms including agitation, anxiety, apathy, psychosis and sleep disorders will be published in the Journal for Huntington's Disease within the next several months. Summaries of both will be published on HDDW and offered to others.

Guidelines aren't helpful if no one knows about them.  At least so far, peer reviewed guidelines for HD that have been developed by working groups of both HSG and EHDN have not been endorsed or disseminated by either organization. By contrast, for other diseases, guidelines are promoted at conferences, and are more likely to be followed by general physicians when specialty organizations actively support them (the top-down approach).  Until then the "untreatable" designation is likely to persist among medical systems.  

The best alternative approach for families is the  "down-top" of bringing the guideline information to their medical providers who lack knowledge of HD care.