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It's Time: Change the Huntington's Disease Diagnostic Criteria


In the year 2024, we find ourselves at a pivotal crossroads in the field of medicine and patient care, especially concerning the diagnosis and treatment of Huntington's Disease. As a patient deeply affected by this condition, I stand with thousands globally, advocating for a much-needed overhaul of the current diagnostic criteria for HD. Our collective voices echo a sentiment of urgency and a plea for change, rooted in personal experiences and supported by a growing body of evidence backed by many of our international medical professionals.


Historically, the diagnosis of Huntington's Disease has been heavily reliant on the onset of physical motor symptoms - Chorea, the involuntary, jerky movements that are characteristic of the disease. However, this criterion overlooks a crucial aspect of HD: the myriad of non-motor symptoms that often precede Chorea. These include psychiatric, emotional, and cognitive declines, which are not only debilitating but also critical indicators of the disease’s progression.


The current diagnostic approach is, in many ways, an archaic practice that fails to capture the full spectrum of Huntington's Disease. By waiting for the physical manifestations to surface, we are neglecting the early and equally significant symptoms that patients endure. This delay in diagnosis denies many individuals access to essential supports and resources at a time when they are most needed.


I, like many others, have experienced firsthand the frustration and helplessness of navigating a healthcare system that is not equipped to recognize or validate our experiences until they fit a narrow, outdated set of criteria. Thousands have been turned away, our symptoms dismissed, as they did not conform to the conventional expectation of what HD 'looks like'. This exclusion is not just a medical oversight; it is a systemic failure that disregards the complex nature of the disease.


It's important to understand that HD is more than just Chorea. The psychiatric, emotional, and cognitive symptoms can be as debilitating, if not more so, than the physical aspects. These symptoms can wreak havoc on a person's daily life, affecting their ability to work, maintain relationships, and perform routine tasks. Yet, under the current diagnostic framework, these challenges are often overlooked, leaving patients without the necessary medical acknowledgment and support.


The voices of patients, caregivers, and families must be heard and heeded. We are not just cases to be studied; we are individuals living with the multifaceted realities of HD every day. Our experiences and the ever-growing scientific evidence call for a reevaluation of how HD is diagnosed.


In 2024, with the advancements in medical knowledge and technology, clinging to an outdated diagnostic model is not just ineffective; it is irresponsible. We urge the vast medical community to adopt a more inclusive and comprehensive approach to diagnosing Huntington's Disease. This means recognizing and giving due weight to the psychiatric, emotional, and cognitive symptoms of HD, even in the absence of Chorea.


A revised diagnostic criterion is not just a matter of medical accuracy; it's a question of providing timely care and support to those who need it. It's about acknowledging the full impact of Huntington's Disease and ensuring that every individual affected by it receives the recognition and resources they deserve.


As a patient community, we stand together, hoping for change. We are not just fighting for a diagnosis; we are fighting for our lives, for our dignity, and for the quality of care that we rightfully deserve. It's time for the medical establishment to listen, learn, and act. Our lives depend on it!

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