Over the last six months, I have engaged in many conversations with my peers in the Huntington's community. These conversations took place via Facebook, Skype, FaceTime, telephone, and in person. I spoke with fifty community members pertaining to the following topic:
Huntington's disease statistics in America.
I read the following statement to each individual:
"Today, there are approximately 30,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease." - HDSA (http://hdsa.org/what-is-hd/)
After reading this statement to all fifty individuals, the response was overwhelmingly clear - every person disagreed with this current statistic.
I furthered the conversation by asking each of my peers to provide me with their opposition to the current statistic. I stopped taking notes after several replies. Not surprisingly, the responses began to overlap. I've always questioned the math pertaining to the current statistic, and it was more than obvious that these fifty individuals concurred. I then typed the following into my web browser and shared the results with the fifty individuals:
How many Americans have Huntington's disease
Note the date: Jan 1, 2000. To say the least, my peers were not happy about this. Many had already seen this stat over the years, but for some, this was their first time.
I believe we should examine something of great interest from the Huntington Study Group (HSG) - HD Insights "How Many People Have Huntington's Disease?"
"There are two ways to answer the question “how many people have Huntington disease (HD)?” The first is by determining the prevalence (i.e., the proportion of a population that has a given condition at a particular point in time), and the second is by determining the incidence (i.e., the number of people who will develop a condition over a defined period of time) of HD. Prevalence answers the question of “how many people currently have HD?” and incidence answers the question of “how frequently are people being diagnosed with HD?” Research suggests that the answers to both of these questions are changing and perhaps increasing. These changes will have important biological, economic, and social implications for the future." (http://huntingtonstudygroup.org/hd-insights/how-many-people-have-huntington-disease/)
I note this portion of the HSG's Insights publication because it directly reflects the feedback and concerns I received from the community members I interviewed. Since I began my advocacy mission in 2009, these statistics continue to unnerve me. For years, patients and caregivers continued to struggle with this statistic. In my investigation, the concern from the group was evident:
So many people we talk to on social media have loved ones who are turned away from doctors because they show no chorea. What about the emotional and psychological aspects of this disease? Depression, anxiety, and mood-swings are problematic for so many who have not been diagnosed, which directly affects their ability to stay employed, drive a vehicle, function while out in the community, or within social circles. It was also evident that the family unit also deteriorates significantly without a diagnosis.
I found the following information on the Huntington's Disease Society of America (HDSA) website:
"HDSA has been working with the Social Security Administration (SSA) for several years to achieve two goals:
Update the neurological listings used by the Social Security Administration to include more comprehensive symptoms of the disease, including psychological and cognitive symptoms that often appear before physical symptoms.
Add Huntington’s Disease and Juvenile Onset Huntington’s disease (JHD) to the Compassionate Allowance List, allowing for faster approvals of disability claims for persons with HD."
Although I am personally pleased that the HDSA has made strides to update the diagnostic criteria, however many of our families are falling through the cracks. On a daily basis, we read countless posts from our families who are battling with the hardship of obtaining a diagnosis for their loved one. Why is this still happening?
I reached out to two medical professionals for their opinion on this topic.
"In any sickness, the correct diagnosis is the key to the best possible treatment. This is essential for HD, because erroneous diagnoses will invariably lead to false treatment. Treatment means proper medication, proper psychological and social support, especially when HD starts with emotional, cognitive, or psychiatric symptoms. In many cases, diagnosis is often missed by years to the disadvantage of patients and their families. These symptoms can cause problems and can lead to the loss of job, family, and friends, causing unhealthy stress, which accelerates the progression of HD. An experienced physician - this could be the "family doctor" who perhaps has seen many affected members in a family, or a clinician at an HD center, may diagnose the psychiatric symptoms of HD. For instance, to differentiate between an "ordinary" depression or one caused by HD. My methodology begins with the diagnostic work-up: the genetic test first, an MRI, possibly a PET scan, and then cognitive and motor tests. In my opinion, many departments of psychiatry or neurology will not be set up to do the job. However, even if they have the machinery, many will lack the expertise in that field. An established Center of Excellence for HD should be the place for a patient in the USA to visit. But WeHaveAFace has heard from families that patients were turned away from the Center of Excellence in their areas due to the “no chorea - no diagnosis” stance. This is no longer acceptable, as is suggested in a publication on diagnostic criteria [Diagnostic criteria for Huntington's disease based on natural history, Ralf Reilmann, Blair R. Leavitt, and Christopher A. Ross, 2014]. https://sci-hub.tv/10.1002/mds.26011
Listen to a short excerpt of Dr. Lange regarding CAG and diagnosis (WeHaveAVoice Radio).
- Dr. Herwig Lange started his career as HD researcher at the Vogt Institut für Hirnforschung (brain research) in 1969 and as a clinical expert for Huntington's disease in 1980. He is a pioneer of the investigation of the preclinical phase of Huntington's disease, and has decades of experience caring for HD/JHD patients and families in Germany. In 1982 Dr. Lange opened the first specialized HD ward in Europe. Dr. Herwig Lange is one of the world's leading Huntington's Disease clinicians and researchers. Dr. Lange serves as a consulting physician at the George Huntington institute and at the Neurology department at the Wilhelms University in Germany. Dr. Lange specializes in various aspects relevant to HD management, such as psychiatry, neurology, movement disorders, and neuropsychology. His extensive experience had earned him over 95 publications on HD and HD-related medical subjects, and he is a sought-after lecturer at global HD conferences and related events.
"There are many situations in the HD world where providers should resist the notion that "one-size-fits-all". For many years people thought HD was about chorea - it is still classified as a 'movement disorder'. Research has taught us it is more: neuropsychiatric features, behavioral challenges and cognitive changes. Huntington's Disease is now widely accepted as a triad of symptoms, not simply chorea. So when do we 'diagnose' someone? Simply put? I think a diagnosis should come when the patient needs it or there are compelling medical indications to proceed . There are people with either known or unknown gene status who legitimately become 'disabled' from their neuropsychiatric and or cognitive symptoms prior to the onset of chorea. A diagnosis would help them get much needed benefits and medical care. There are also situations where someone may be doing okay, does not want to get diagnosed, (maybe still working, in some cases lack of insight, or possibly delaying having to face it), where a diagnosis can be delayed. If they are able to perform their accustomed roles and responsibilities, and no one is in danger, and they don't want to know - why force it?
There are many different scenarios in HD families, and I think the best policy is to help each family arrive at a decision that best helps them cope with the information and arrive at the appropriate plan of care moving forward. In rare cases a diagnosis may need to considered against someone's wishes if someone is in danger. This isn't common, but it has happened."
- Terry Tempkin, NP-C, MSN is a retired nurse practitioner who has cared for HD/JHD families for 19 years. She was the co-Director of the HDSA Center of Excellence at University of California Davis. In addition to her clinical practice, she who served as a research coordinator for 18 clinical trials in HD.
It is refreshing to see that Terry Tempkin used a phrase I've been saying for almost a decade: Huntington's disease is not a one-size-fits-all disease. Terry always speaks from the heart and continues to recognize the needs of our community. It is also a breath of fresh air to hear that Dr. Herwig Lange truly understands what Huntington's families experience.
In 2015, WeHaveAFace completed its first documentary - "The Huntington's Disease Project: Removing the Mask." We were blessed to have patients and caregivers who were willing to tell their stories about living with Huntington's disease. One interview which describes the painstaking process to receive a diagnosis, was given by Sharon Thomason (Executive Secretary/Director of Education at Help 4 HD International and Managing Editor/Writer at The Official Huntington's Post). Sharon's testimony speaks volumes and directly reflects the challenges of so many within our community. Sharon's strength and courage sheds light on this subject.
Prior to completing the documentary, we reached out to Louise Vetter (CEO of HDSA). We asked for information regarding the current diagnostic criteria. Who sets the standard, and what is the HDSA's current stance?
Ms. Vetter responded:
"We've [HDSA] been trying to get this addressed for years because we absolutely agree. The challenge is that in the US there are multiple organizations that clinicians depend on for these criteria -- the American Academy of Neurology and the Movement Disorders Society. We are also strongly recommending that clinicians welcome family involvement in setting the criteria and we'll keep pushing for that."
Although I believe there is hope for all of us within the Huntington's community, it is heartbreaking that many of our peers are not being diagnosed based on the current diagnostic criteria. I must underscore that there are doctors who are thinking "outside-the-box" and are treating our peers - individually. But, it is still our job as patients and caregivers to continue to talk to our doctors and hope they will listen.
In late November 2017, I reached out and emailed Louise Vetter (CEO HDSA) with my concerns:
I wrote, "In my travels throughout the year, I have come across doctors at CoE’s who are willing to diagnose a patient without the manifestation of chorea. They are willing to diagnose based on emotional and psychiatric, or cognitive symptoms. This is a wonderful step in the right direction!
My questions are as follows:
Have all the CoE’s been given direction of some sort to diagnose a patient as mentioned above? [referring to Social Security Administration]
Is there an existing document from the HDSA that has been given to the CoE’s regarding this effort/update to the diagnostic criteria?"
On December 1, 2017, I received an email response from Louise Vetter:
Louise wrote, "As you found, this is an issue we care deeply about and we’re thrilled to support a team of HD physicians led by Drs. Chris Ross and Ralf Reilman who are leading an effort to update the HD diagnostic criteria via a Movement Disorders Society working group. Given that changing clinical practices is most effectively done through groups like MDS, we have confidence in the process and leadership of the workgroup. I’d encourage you to reach out to them directly. I’m pretty sure that that Dr. Lange knows Dr. Reilman, and Dr. Ross is easy to find at the HDSA Center of Excellence at Johns Hopkins."
WeHaveAFace, other HD organizations, and our population, understand that "a diagnosis" is NOT for everyone. However, for those who truly need it, their voices should be heard. Furthermore, it is my opinion that the American Academy of Neurology and the Movement Disorders Society should to pay closer attention to the families. It is common sense to suggest that Huntington's families should be included in the decision making process. I've always said that we are not a rare disease, just rarely known. Maybe if these organizations were flooded with letters, they would take notice?
"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