DNASlide.png

This update will allow patients to receive a diagnosis without waiting for the onset of chorea. A diagnosis based on emotional, cognitive, psychiatric, and vegetative symptoms, will afford patients and families the services and supports they need now.

 

Do you agree with the proposed updated diagnostic criteria for Huntington’s disease?

Countries Responded: 

Argentina, Australia, Canada, Chile, England, France, Germany, Ireland, Italy, Mexico, New Zealand, Portugal, Scotland, South Africa, Spain, USA

Next update - November 21, 2022

Petition Comments (Unedited):
 

"Yes, I like this updated criteria very much. Thank you! I agree that it is important to acknowledge that chorea may not be an initial symptom. I was surprised to see that the "expanded repeat" is defined as >27 CAG. The definitions I have seen (University of California, Davis, NIH) define the range of 27-35 as "intermediate range," in which a person is NOT at risk, but might pass on the disease to the next generation. As stated here, following the sentence stating "The diagnosis of HD is--clinical-biological," the next sentence implies that >27 IS a diagnosis of HD. Which of course you are not saying, but this should stated more clearly so there is no confusion. From my perspective, the statement regarding "practical implications" could perhaps acknowledge that information must (or "should?") be given in accordance with the needs and wishes of the patient and their significant others. I am a troubled by the seeming necessity of giving a perfectly healthy well functioning individual a "stage 1 diagnosis" and thereby labeling them (to themselves as well as others) as "sick."They are not "sick." Yet I see the logic of doing so to access services, and especially when disease-modifying therapies become available and it is possible hopefully to delay onset of clinical symptoms. It is a conundrum that many scholars have written about, ie "patients in waiting." Perhaps this could be addressed more in depth. Thank you for this opportunity to give feedback!" - USA Alice Wexler (permission given to post)

"Clear and thorough criteria are proposed. Hopefully this will help secure the change so needed for those affected by HD." England, Dr. Clare Eddy (permission give to post) 

 

"My 46 year old HD+ son was so deeply in debt that he took his own life. He saw no way out. If he had been given the written diagnosis when he was first tested, he may have received permanent disability, social security and the health care he needed." - USA
 

"Is the HSC part of this? I don’t see them at all. We need a global team on this project." - Canada

"Very important to remove the HD diagnosis from chorea, since that often begins later if ever for some people. Thank you." - USA

"I pray to God that they make these changes. Great work!" - England

"Thank you for making changes in the criteria. It's been a problem for me with neurologists. One told me criteria needs to change." - USA

"I think it’s important for the reflection of change ,! and I was tested in 1995 when my family was scared to let any one know that my dad and his dad and great grandma all died from Huntingtons and I will do every research studies out there! My dad had his brain go to Harvard and I am also!! We need to find a cure and meds for hd!! Doc please stop the monster!!!!????!??" - USA

"I hope the poll works because they never listen to what we need as patients and family members here." - USA

Support Group Session
Support Group Circle

Petition Comments (Unedited):
 

"I cannot believe or understand why this has not changed already. This is perfect for us." - USA

 

Translated: "We needed it years ago." France

 

"They need to listen to the families on this one!" Australia 

 

"Thank you for your continued hard work and support in our HD community!" USA

 

"The broken healthcare system in the USA is inadequate to care for patients properly. Setting these standards will give us a common voice that counts. HD friends and family members are often not afforded even the basic benefits of dental care. It depends on where you live and the policies of the state you live in, as well as the healthcare you can afford. Lets hope we can get these as a common standard of care into the HDSA Centers of Excellence, and somehow get better support for the basic needs of families suffering the consequences of HD. Thank you for developing this criteria. Cheers!" - USA

"Significant changes need to be offered to get the genetic testing done." - USA

Translated: "Patients need the diagnosis of Huntington's when necessary.  Support and care must be available when a person needs it." - Mexico

"This is absolutely imperative to put these changes in place as the gold standard." - Canada

Petition Comments (Unedited):
 

"Looking forward to support and comments from the HD-community." - Germany

Translated: "This is important and must be changed" - Germany

"Is the HDSA working with you all on this?  How can I help make sure our local support groups know this!" - USA

"It is brilliant and well written.  This change is needed and we support it." - England

"Clear and thorough criteria are proposed. Hopefully this will help secure the change so needed for those affected." - England

"valid information" - Germany

"I know my answer won't matter anymore but this needed to be changed before both of my sons died from this disease.  The centers need to push it through for those people who have family still alive." USA

"I was put through hell to try get my  daughter a diagnsos of HD they did not care at all!!! Thank god you guys are doing this!!!!!!"  USA

"Some think just because we are Canadians that we don't have this problem but we do.  I have been an advocate since 1987 and I only pray that changes will happen for others struggle with HD." Canada

"I don't understand why  this is not going on already??  What more can we do for this?" - England

"The suicide rate is so high in our community and if something does not change there will be more deaths.  I have been a career for two of my sons and one took his life because he was told that he did not have chorea and so, no diagnosis to get help." - USA

"Is 27 CAG really the threshold? I’ve heard this is the sticking pot with others signing on. What’s the end goal of this effort….who do you need to adopt this for it to become real? Is it HDSA, HSG, MDS, or some paper in a prominent journal?" - USA

"I am reading this as it will help juveniles also and the person doesnt need to meet 3 of 5 criteria and have everything else ruled out first ?? will there be a network of suport for the drs seeking help and answers for patients? or would this replace past publications on old criteria ? when even genetics sees a person with symptoms that are visible they hesitate and delay diagnosing from my experience so will this help take that individuals "opinion" on diagnosing excluded? also can this help remove the time and energy spent by so many trying to understand what is happening what stage and so forth?? that would be a great positive to have apts and have somone who can explain or state this is where you are and this is what we can do with the options and recomendation !Thank You for pursueing this well needed adjustment !Id hope it even removes some of that stigma and hurdle the CAG varriation can often create !!maybe Im dreaming BUT maybe not!! wonder if exome analysis would be a costly added test ??would that info also offer help for clinicians and patients ??" - USA

Caring
dna-SBI-300431562.jpg

"Thank you for your on-going work on behalf of Huntington Disease families!" - USA

"I feel early intervention is the key" - Canada

"Yes! My wife Elize has Huntington's disease diagnosed in 2016" - South Africa 

"This would allow much earlier intervention in if we had known about a previous clinical history Huntington's Disease it would have allowed for a diagnosis at least 10 years earlier and allowed for early intervention and managing our this disease are so to extend my wife's life and quality of life so to that end I would wholeheartedly support the changing of the diagnostic criteria" - New Zealand

"Why are a few hd orgs missing from the list?  I am shocked." - USA

"This is so simple and I cant understand why they won't change it?  If it was a member of their family maybe they would understand and help us!" - USA

"After almost 40 years and hoping this would happen you have my support.  Our family has lost their lives from this monster and those in power never seem to listen.  They say they do and are here for us but come on really?" - USA

"This needs to be implemented immediately." Germany, Dr. Lange (permission to post)

"The psychiatric and cognitive symptoms are vicious.  For any organization or group to withhold a diagnosis from a patient in need is outright disgusting.  Your education event was eye opening and we enjoyed it so much." - USA

"I watched the entire event on the 25th of June.  As a medical professional, I was disappointed to hear how detached CHDI is to the needs of patients.  Great job and keep up the great work.  Patients are the teachers and we must listen and take notes!" - USA

"Brilliant day and we all enjoyed the conference.  Never give up even though there are those wish you would." - England

"I need to get the hd didanosis bc I am going to lose my job I know it.  I tell my doctor all of this and tell her I can not do this anymore.  I have no movement in my arms and legs but the hd center will not do crap!" - USA

***More Comments Soon***