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A Wee Bit Angry: A Huntington's Disease Story

Whether you are a person with Huntington's Disease, a caregiver, family member, friend or acquaintance, we all have our stories; stories about HD and how they have affected us personally. We all tend to listen, read or watch as these people tell their stories with great interest as we can see the similarities to our own stories. But every once in a while there's that one story that we cannot identify with since that never happened to us.

We often hear the story of how those in the HD community were diagnosed and for most that is very similar to how it happened for us. What we don't often hear are the stories of those who try as they might, cannot get a diagnosis.

What could prevent a person from obtaining a diagnosis of Huntington's Disease?

In many areas you may not be able to get a diagnosis for one reason alone. That reason being that you do not display the symptom of chorea, or movement associated with HD. It's like not being able to get a pregnancy test without showing that your belly is growing.

The current diagnostic criteria for Huntington's Disease

  • Does not meet the needs of our patients and families.

  • Excludes a large group of our patients who do not express overt motor symptoms (chorea).

  • Does not effectively support our patients who have manifested: psychiatric, cognitive, behavioral, and vegetative symptoms of Huntington’s disease.

Is there a movement to change this criteria so that many families can move forward with their lives?

Yes, there is. Project Change aims to change the current diagnostic criteria to include cognitive, psychiatric, behavioral, and vegetative decline for diagnosis via the UHDRS.

  • UHDRS Q80 should be changed: Q80 diagnostic criteria (Motor, Cognitive, Behavioral, and Functional components) do you believe with a confidence level ≥99% that this participant has manifest HD? (0 = No, 1 = Yes)

  • Confidence level ≥99% should be changed to ≥50%

2 - If a patient has an expanded CAG (mutation above normal range) and expresses cognitive, psychiatric, behavioral, or vegetative decline, the patient should receive a diagnosis of Huntington's disease. A diagnosis for patients with these symptoms of Huntington's disease will facilitate the necessary supports and services they need.

The UHDRS is the Unified Huntington's Disease Rating Scale.

Who is involved in Project CHANGE?

Now, this is where I get a "wee bit angry".

Without the support and participation from the Huntington's community, nothing can change. Therefore, it is paramount that patients and families take the lead in bringing about the changes we need. We are also pleased that many HD organizations and medical professionals are supporting this initiative. Together we can better the lives of our Huntington's patients and families. They include:

Dr. Herwig Lange (George Huntington Institute), Dr. Ralf Reilmann (George Huntington Institute), James Valvano (WeHaveAFace), Louise Vetter (HDSA), Debra Lovecky (HDSA), Dr. Jane Paulsen (University of Wisconsin, Madison), Dr. Hugh Rickards (National Centre for Mental Health, Birmingham), Dr. Travis Cruickshank (Edith Cowan University), Mayke Oosterloo (Maastricht University Medical Center, NL), Dr. Thomas Bird (HDSA CoE, University of Washington), Dr. Roger Barker (University of Cambridge, UK), Dr. Raymund A. C. Roos (Leiden University Medical Centre, NL), Debbi Fox-Davis (, Donaji Toledo, (AMEH - La Asociación Mexicana de la Enfermedad de Huntington), Tatiana Henrique, (ABH – Associação Brasil Huntington), Cath Stanley, (HDA - Huntington's Disease Association), Frances Saldana, (, Dr. Clare Eddy, (Birmingham and Solihull Mental Health NHS Foundation Trust). Cindy Moore and Kevin Jess (WeHaveAFace Canada)

Why a "Wee Bit Angry"?

Do you see an organization or person who is not listed? I see several! If you don't see an individual or organization listed here, it is because they simply didn't answer the call to participate or have stated that they do not support Project CHANGE. Can you imagine?

This literally rots my socks to think that so called patient advocacy groups who tout themselves as patient driven and portray themselves as caring organizations with the best interest of the HD patient at heart, do not want to be a part of what is most likely going to be the most important thing to happen to the HD community since the discovery of the gene in 1993.

If you do not see an organization from your area supporting this project, you need to contact them and make sure they are involved. Most HD organizations are listed in the WeHaveAFace Unity Project if you need contact information. It doesn't have to be an organization as well. It could be a person, such as a writer or a medical professional, or even an HD publication. Be a warrior! Be an advocate! Contact them.

Do they want to be on the wrong side of history? And if they are not advocating for the patient, then who are they advocating for?



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