Looking back over the years, I can honestly say that much has evolved pertaining to education, information, and resources for Huntington's' disease. Many advancements have come through the years - research, care, and support. The physical attributes of Huntington's disease (Chorea) can now be "controlled" with medications: in previous years, Tetrabenazine/Xenazine, and most recently, AUSTEDO® (deutetrabenazine). These pharmacological advancements for the movements associated with Huntington's disease must be celebrated. However, what happens when patients do not manifest Chorea, yet they undoubtedly suffer from what used to be considered "softer symptoms" of Huntington's disease?
So why should the diagnostic criteria for Huntington's disease be updated?
Let's first examine the current diagnostic criteria for Huntington's disease as per the Movement Disorders Society:
"As part of a Task Force of the Movement Disorders Society, we therefore suggest that expanded diagnostic criteria for HD should be adapted to better reflect the natural history of the disease, to facilitate the conduct of clinical trials in premanifest subjects targeting prevention of neurodegeneration, and to facilitate earlier symptomatic treatment. We propose a revised set of criteria for HD diagnostic categories in the International Classification of Diseases to reflect our current understanding of HD natural history and pathogenesis. We suggest, as an initial proposal for discussion, that individuals with confirmed CAG expansion in Huntingtin (i.e., “genetically confirmed”) should be categorised as either “presymptomatic” (i.e., no clinical signs of symptoms and no functional disability),” “prodromal” (i.e., some subtle motor or cognitive changes representing a decrement from baseline and causing subtle subjective or objective difficulties) or “manifest” (i.e., clear motor and cognitive changes representing a decrement from baseline and causing significant subjective or objective disability. We suggest that depression be left as a separate diagnosis, since it can occur at any time during an individual’s lifespan, not be clearly related to HD onset, and should itself be the focus of active attention and treatment. However apathy and irritability, and other personality changes characteristic of HD may be considered when diagnosing prodromal and manifest HD. For individuals “not genetically confirmed,” we would propose categories of “clinically at risk,” “clinically prodromal,” and “clinically manifest”. " Link to quote by Christopher A. Ross and Ralf Reilmann.
Although the diagnostic criteria were chiseled "in stone" long ago, it is crucial that we as a community provide feedback to bring about change. When I coined the phrase, "Huntington's disease is not a one-size-fits-all disease" in early 2011, I meant it. Thousands of my peers quickly understood the truth behind those words. For years I have held many conversations with people across many countries, but our voices remained unheard.
Let us continue to remind ourselves of the question I put forth at the beginning of this article. What happens when patients do not manifest Chorea, yet they definitely suffer from what used to be considered "softer symptoms" of Huntington's disease?
In September 2020, WeHaveAFace launched an international survey: "Should the diagnostic criteria for Huntington's disease be reviewed and updated?" After several years of patient and caregiver conversations, we concluded that too many patients were being turned away from doctors because they did not meet the current diagnostic criteria (motor skills / Chorea). We decided to gather data to provide a comprehensive report to leading medical professionals in the field. WeHaveAFace Senior Medical Advisor, Dr. Herwig Lange of the George Huntington Institute, is overseeing this process. Preliminary results from the survey report rapid saturation (Saturation occurs when redundancy is reached in data analysis and signals to researchers that they may cease data collection). Simply, the community as a whole wants the diagnostic criteria to be updated and changed. The data not only speaks for itself, but the comments provided within the survey speak volumes.
Nowadays, it is widely recognized that many doctors have already made "tweaks" to the current diagnostic criteria. I personally know many of these medical professionals, and thankfully patients are finally being tested and diagnosed without chorea, but with other symptoms related to Huntington's disease. Inasmuch, many of our doctors are acknowledging and diagnosing patients with <40 CAG repeats (35-39). We must continue to treat Huntington's disease individually.
Again: What happens when patients do not manifest Chorea, yet they definitely suffer from what used to be considered "softer symptoms" of Huntington's disease?
This question takes a massive turn when we discuss it from an American perspective. Individuals suffering from the emotional, cognitive, and psychological aspects of Huntington's (not just Chorea), rely on the ability to receive social security benefits when they need it. Not when doctors decide. Too many of our peers can no longer work or retain employment due to the symptoms of HD. We can further this conversation by underscoring suicidality rates (attempts), which occurs more frequently in our disease-oriented group. We can start listening more clearly to our caregivers as they report that their loved one(s) are exhibiting sexual problems (hypersexuality and hyposexualtiy), sexual promiscuity, alcohol and/or drug abuse, relationship challenges, and social withdrawal. The list goes on, and in the majority of these cases, Chorea is not discussed. Quite frankly, it's irrelevant to most families who need help. It is impossible for our peers to receive Social Security Disability Insurance (SSDI) or Supplemental Security Income (financial benefits) without a diagnosis. Furthermore, there is no hope for medical coverage (Medicare/Medicaid) in the USA without a diagnosis to help patients and families with costs - medicines, doctor visits, etc. All medical expenses must come out-of-pocket in the USA unless you have private insurance, or insurance with an employer. Other countries do not have this problem. Here in America, the predicament is not about placing an HD patient on a medication regimen, but about the HD patient being able to afford them financially. It's a horrific situation, and to understand this dilemma, you must experience it.
Thousands of us in the USA were (still are) proponents for the Huntington’s Disease Parity Act (HR. 2589) as per the HDSA.
“The Huntington’s Disease Parity Act is a vital piece of legislation for HD families because it waives the two-year waiting period for Medicare coverage for those affected by Huntington’s disease,” said Louise Vetter, President & Chief Executive Officer, Huntington’s Disease Society of America. “For a person with HD whose is facing the constant decline in cognitive, emotional and physical function, two years can mean living a going from a healthy lifestyle to being bed-ridden and needing 24/7 care.”
Sadly, in the USA, the two-year wait before receiving medical coverage via Medicare or Medicaid is still in effect. If you live in the USA, you can do your part to help Pass The HD Parity Act!
Again: So why should the diagnostic criteria for Huntington's disease be updated?
In conclusion, we must fix what is not working properly for our Huntington's community. Our people have spoken and will continue to shout from the rooftops. It is time for understanding, and time for change. Most importantly, it is time that patients and families take the lead in this conversation. WeHaveAFace looks forward to working with an incredible team of international HD professionals to broaden this conversation. We have hope!
If you haven't already completed the survey: "Should the diagnostic criteria for Huntington's disease be reviewed and updated?" please participate! Let your voice be heard!
*Results from our international survey will be released in January 2021
"Never doubt that a small group of thoughtful, committed, citizens can change the world. Indeed, it is the only thing that ever has." - Margaret Mead