Are pre-existing conditions returning, and Obamacare ending?

Nine years ago, with passage of the Patient Protection and Affordable Care Act (ACA) under Democratic President Barack Obama, I celebrated with an article titled “Good-bye, pre-existing conditions!”

Widely known as Obamacare, the ACA prohibited insurance companies from denying coverage to people with pre-existing conditions, a widespread practice that severely endangered the genetically unlucky. It also made health insurance available to millions of people previously unable to obtain it, and it extended family coverage for children up to age 26.

In 2012, the U.S. Supreme Court upheld Obamacare by a 5-4 decision, with conservative Chief Justice John G. Roberts Jr. joining the court’s four more liberal judges. However, with the long political fight over the ACA heating up again, and a more conservative Supreme Court, Obamacare could be abolished if the court agrees with right-wing challenges to it.

Along with many other disease groups, the Huntington’s disease community could face declining quality of care, increased costs, and renewed discrimination and stigma.

Hiding the central fact of my health

I am an HD gene carrier.

In my 2010 article on the ACA, I wrote that, because of the insurance restrictions for pre-existing conditions, I had “never used my health coverage to help me deal with the central fact of my health: my gene-positive test for this horrible brain disease.” I described the complicated and expensive lengths I went to in securing alternative assistance with HD.

Concealing my HD status from my health plan had produced “an absolutely absurd situation,” I observed in a 2019 HD Awareness Month podcast. People like me used to hide our conditions because we feared losing our coverage.

“Thank goodness for the Affordable Care Act,” I commented. The ACA “got rid of this nonsense about pre-existing conditions.”

Indeed, the enactment of the ACA had helped convince me to go fully public about my HD status in 2012 and inform my health plan of my HD status (click here to read more).

In all, this has made me a more effective HD advocate – and more organized and confident regarding my daily fight to stave off symptoms.

New attacks on the ACA

The Republican Party has officially opposed Obamacare, but – because of its popularity – failed to repeal it even when the party controlled both houses of Congress under President Donald Trump in 2017 and 2018. (The 2017 major tax bill signed by Trump did eliminate, starting this year, the ACA penalty for not having insurance.)

However, the Trump administration has carried out a multi-front attack on the ACA. Among other things, it has promoted insurance plans that do not comply with the protection for pre-existing conditions, and it has allowed states to impose work requirements for Medicaid recipients. America’s number of uninsured had fallen to record lows by the end of the Obama administration in early 2017, but the number has started to rise again.

Then, on March 25, Trump’s Department of Justice filed a brief supporting a Texas federal judge’s December 2018 ruling that the entire ACA was unconstitutional.

On May 22, California Attorney General Xavier Becerra, a Democrat and one of the lead defenders of the ACA, joined 20 other attorneys general in filing a brief in defense of the ACA in the U.S. Court of Appeals for the Fifth Circuit in New Orleans.

“The Trump Administration has made clear that it will not defend Americans’ healthcare and the law that tens of millions of Americans across the country depend on – so our fight continues,” Becerra stated in a press release.

The appeal will be heard on July 9. Depending on the ruling, the case could go to the Supreme Court. With two Trump appointees, the Supreme Court has become potentially more hostile to the ACA.

HDSA’s support

The Huntington’s Disease Society of America (HDSA) supports the ACA.

“HDSA believes that any attempts to repeal or dismantle the ACA without providing a replacement plan that maintains [the] protections and benefits for Americans impacted by complex and chronic diseases like HD is unacceptable,” the HDSA national office wrote me in a June 10 e-mail. “HDSA is committed to protecting access to healthcare for individuals impacted by HD.”

According to HDSA, the ACA “has created safeguards for vulnerable Americans who are impacted by chronic, complex diseases like HD from being denied healthcare coverage or being purposefully priced out of the healthcare market.” The ACA has “provided important avenues to access care for families with HD and we believe that they need to be protected.”

Thus, without the ACA or a robust equivalent, HD families could face greater difficulties in finding quality, affordable care.

We must not return to the ‘HD closet’

In addition to supporting HDSA and other advocacy organizations, HD family members can contact their state attorney general to support or join the appeal of the anti-ACA Texas ruling.

In California, where I reside, Becerra has sent several recent e-mails to political supporters asking them to sign a petition in support of the ACA. The e-mails have also asked for donations to help support the defense of the ACA.

According to Becerra, 133 million Americans have pre-existing conditions. He calls the ACA a “life-saving law.”

(The debate over the ACA has also helped stimulate calls by many of the 20-plus 2020 Democratic presidential contenders for a “Medicare for All” program. The debate is also related to the anti-science agenda of the Trump administration. I hope to address these issues in future articles.)

As I wrote in 2010, the passage of the ACA “brought a new beginning for the Huntington’s disease community – and for everybody in America.”

We must not regress to a system that forces people to hide in the "terrible and lonely HD closet," as so many of us did in the past.

Advocacy in the workplace: raising awareness about Huntington’s disease and brain health

In the fight to defeat Huntington’s disease and other brain disorders, advocacy in the workplace can attract new allies, boost awareness, and serve as a bridge to resources for those facing HD.

November 4 will mark five years since I went public about my gene-positive HD status in my essay “Racing Against the Genetic Clock,” published in The Chronicle of Higher Education.

Before that day in 2012, I lived in the “terrible and lonely HD closet,” with virtually nobody outside the HD community, family, and close friends aware of my family’s struggles. My name appeared nowhere in the local, tri-annual HD newsletter that I wrote and edited from 2001-2007. I began this blog in 2005 with a pseudonym, “Gene Veritas,” “the truth in my genes,” a reflection of my status as an HD-gene carrier.

Starting with the Chronicle article, I have integrated my advocacy into my work as a professor at the University of San Diego (USD).

Bioethical challenges

In 2014, I started collaborating with Laura Rivard, Ph.D., an adjunct professor in the USD Department of Biology who teaches a course on bioethics. One of her students, Nazin Sedehi, recorded a video interview of me recalling my family’s experiences with genetic testing for two websites aimed at helping a general audience explore bioethical dilemmas.

I’ve spoken on HD to Dr. Rivard’s class three times. In February 2016, I gave a presentation titled “Huntington’s Disease and Bioethics: A Personal Case Study.” The talk focused on how advances in medicine and biotechnology have provided new tools for understanding both human biology and the situation of HD-affected individuals and families.

“These changes – these huge transformations that we’ve been going through scientifically and socially – have put people in unprecedented predicaments and thus, they are creating new bioethical challenges,” I stated. I reflected on how HD families faced decisions about predictive testing, family planning, abortion, suicide, euthanasia, and more.

You can watch my presentation in the video below. During the other class sessions, I provided commentary and answered questions after we watched the HBO documentary The Lion’s Mouth Opens, about young filmmaker-actress Marianna Palka’s decision to get tested for HD.

Huntington's Disease and Bioethics: A Personal Case Study from Gene Veritas on Vimeo.

‘You are precious’

My advocacy reached a milestone in May, when I traveled with my family to Rome to help represent the U.S. HD community at HDdennomore: Pope Francis’ Special Audience with the Huntington’s Disease Community in Solidarity with South America. I reported on the audience in several blog posts (click here to read one example).

My trip was made possible by USD’s College of Arts and Sciences, the Frances G. Harpst Center for Catholic Thought and Culture (CCTC), the International Center, and the Department of History. Back home, on September 28 I gave a talk exploring the social, scientific, and religious meaning of this extraordinary event. Some 60 students, faculty, and members of the San Diego HD community attended.

In one of the most emotional speeches I have given, I repeated the words of Francis’ address that most moved me:

For Jesus, disease is never an obstacle to encountering people, but rather, the contrary. He taught us that the human person is always precious, always endowed with a dignity that nothing and no one can erase, not even disease. Fragility is not an ill. And disease, which is an expression of fragility, cannot and must not make us forget that in the eyes of God our value is always priceless. Disease can also be an opportunity for encounter, for sharing, for solidarity. The sick people who encountered Jesus were restored above all by this awareness. They felt they were listened to, respected, loved. May none of you ever feel you are alone; may none of you feel you are a burden; may no one feel the need to run away. You are precious in the eyes of God; you are precious in the eyes of the Church!

I told the audience: “I saw HD turn my mother into a shadow of herself. I deeply fear losing my ability to speak and, especially, to write. Hearing that we HD people are ‘precious’ was a huge morale booster.”

I hope that my presentation raises awareness about HD in the U.S. Catholic community and beyond, and helps spur at-risk individuals and others to exit the HD closet and join the movement.

You can watch the speech in the video below, recorded and edited by Scott Lundergan of USD media services.

'Hidden No More': Pope Francis' Historic Audience with the Huntington's Disease Community from Gene Veritas on Vimeo.

Warning about football’s dangers

On October 17, another dimension of my workplace advocacy – the effort to raise awareness at the university about the dangers of tackle football – reached a crescendo. A resolution to ban football at USD, proposed by Daniel Sheehan, Ph.D., Nadav Goldschmied, Ph.D., and me, was voted on in the Academic Assembly of the College of Arts and Sciences.

USD football is a non-scholarship sport, so its profile is not as high as at some campuses, but it has fervent fans among students, alumni, and even faculty. At a USD Faculty Senate meeting last December, President James T. Harris III, D.Ed., reaffirmed his opposition to cancelling the program because, in his words, “no universities have closed their football program […]  because of concussion evidence yet.”

In the weeks leading up to the meeting, I remembered Pope Francis’ encouragement. I also frequently recalled my mother’s struggle with HD and my father, the “HD warrior” who cared for her for more than a decade.

Our resolution focused on the scientific evidence about football’s threat to the brain, especially the disease known as CTE (chronic traumatic encephalopathy), first seen in boxers in the 1920s and, over the past ten years, identified in the autopsies of an increasing number of National Football League, college, and high school players. We cited the publication in July of an article in the Journal of the American Medical Association documenting CTE in 110 of 111 autopsies of decease NFL players. (For the resolution’s rationale, please click here).

CTE produces symptoms similar to HD and other neurological diseases such as aggressiveness and cognitive loss.

However, many faculty members defended the football program because of virtues such as character-building. Surprisingly, this group included biologists and other natural science specialists.

After one of the most heated faculty debates I have witnessed in 25 years at USD, the motion lost, 50-26. However, 30 professors abstained – reflecting perhaps discomfort about offending their colleagues and/or indecision on the matter.

As a brain health advocate, I was disturbed by the vote. In an upcoming article, I will explore the USD debate in detail, in particular how it shows how scientific evidence is often ignored or manipulated in critical debates, and what this means for the HD and other disease communities.

Immediately after the assembly, I met with about 70 members of USD’s chapter of Phi Delta Epsilon, the co-ed pre-medical fraternity, to speak on HD and the papal audience. I urged them, as future members of the health professions, to be aware of CTE and to safeguard the well-being of football players. I also defended the continued inclusion in our health system of those with pre-existing conditions like me who in the past often hid their potential illnesses.

Fraternity president Nicholas DiChristofano pledged that the organization would support the HD community.

A student stands up for her family

As a result of my public stance, USD faculty members, students, and former students have supported the cause with generous donations and participation in the annual Team Hope Walk of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA). Many read this blog.

The Serbin Family Team of the 2014 HDSA-San Diego Team Hope Walk: from left to right, Dory Bertics, Bianca Serbin, Jane Rappoport, Gary Boggs, Prof. Yi Sun (of the USD History Department), Gene Veritas (aka Kenneth P. Serbin), Regina Serbin, and Allan Rappoport (photo by Bob Walker)

Through my advocacy, I can connect people to HDSA’s resources.

At day’s end on October 17, I met with Sydney Smyer, a 19-year-old USD biology major.

On October 3, Sydney had sent me the following email, quoted here with her permission:

My name is Sydney Smyer. I am a student here at USD and I attended your talk on Huntington’s disease and the explanation of His Holiness, Pope Francis’ involvement in the Huntington’s disease community. I was quite moved and enlightened, Dr. Serbin. Huntington’s disease runs in my family. My grandfather died from it as well as his father and three of his brothers. His remaining brother has recently been diagnosed with Huntington’s disease. Soon I will be tested, especially because my mother refuses to be tested and my uncle has been showing symptoms for some years now. I think your words would enlighten my family and bring them to the fullness and understanding that is comforting in so much uncertainty for our family members.

Sydney, whose family is Catholic, will share my #HDdennomore video with her family. They have an extremely rare disease known as HDL1, Huntington’s disease-like syndrome, a genetic disorder producing HD-like symptoms.

Sydney and I talked for almost an hour about our journeys with HD. Though I mentioned my own past fears about my HD status jeopardizing my career and insurance, Sydney was adamant about facing HDL1 openly and standing up for her family.

She accepted my invitation to the October 30 meeting of the HDSA-San Diego support group, featuring the highly popular annual HD research update by Jody Corey-Bloom, M.D., Ph.D., the director of the local HDSA Center of Excellence for Family Services and Research.

Stepping forward

To me, there is no more important work in the HD community than the mutual assistance we provide at the support group.

When I exited the HD closet five years ago, I did not imagine that one day a USD student would join our group.

I am grateful to USD and my colleagues for their support as the HD community seeks a treatment for this incurable disorder.

As a professor, I have the privilege of melding my academic work with advocacy.

However, many of us in the HD community have unique skills and positions with the potential for building bridges to our employers and others we associate with on personal and professional levels. Doing so can reap many unexpected benefits.

Sydney's courage should inspire us all to step forward.

Six cool L.A. ladies ‘bare the truth’ about Huntington’s disease, highlighting an exceptionally creative year for advocacy

From a pie-in-the-face challenge to documentaries to a plan to light up Chicago in blue, Huntington’s disease activists rose to new creativity in 2014 in their quest to raise awareness.

One of the most ingenious initiatives, #BareYourTruth, materialized as a photograph of six naked women advocates from the Los Angeles area, their bodies partially shielded by placards with the letters C-U-R-E-H-D.

Tastefully sexy but haunting, #BareYourTruth captures an essential issue for the HD community: ill and at-risk individuals like me and our families have struggled to exit the terrible and lonely HD closet, tell the world of our plight, and focus society’s energies on improved care and the search for remedies for this untreatable neurological disorder.

From left to right, Rachel Giacopuzzi-Brown, Angelica Randall, DeAnna DeNaro, Adriana Venegas, Taryn Renau, and Amy Morris O’Keefe (photo by #BareYourTruth)

The goal of #BareYourTruth is to “share the truth about HD,” explained DeAnna DeNaro, 49, a participant in the project. She lost her half-sister Denise DeNaro to HD on February 26.

“There isn’t anything fun about Huntington’s – it’s raw and it’s bare,” said Deanna in a phone interview on December 21. “When you’re naked, it’s a rawness, and you’re showing everything. If you can do that – to talk about something so raw and painful – ‘bare’ means you’re showing everything. We didn’t want to say ‘bare your soul.’ We wanted to do ‘bare your truth.’ Each one of has a truth about Huntington’s. When you talk about the truth, being naked is showing everything.”

Denise was 59 and had two children, now young adults. In 2001 DeAnna’s half-brother Donald DeNaro died at 52. He was believed to have HD. He had three children, today also young adults. DeAnna, Denise, and Donald shared the same father, but Denise and Donald had a different mother, who had HD. Of DeAnna’s five nieces and nephews, only one has tested for the disease. The result was negative. The other four remain untested and at risk.

Cross-country trips to offer care

For more than a decade, DeAnna traveled an average of five times per year from her home in Redondo Beach, CA, to Miami to help care for Denise. During that time, she has served on the board of the resurgent Los Angeles chapter of the Huntington’s Disease Society of America (HDSA), the last three years as president.

“I would go there a month at a time,” DeAnna said. “Each stage that she would enter into, we as a family had to collaborate to evaluate her care and what was the best for her, including her doctors and caregivers.”

As a result of her experience with HD, three years ago Deanna left her career as a manager in the construction business and opened a caregiving business. She will continue in that field when she moves next year to Germany, her husband’s homeland.

DeAnna DeNaro (photo by #BareYourTruth)

The birth of #BareYourTruth

Denise’s death spurred DeAnna to create #BareYourTruth and to recruit other women advocates. 

“I am not at risk for HD,” Deanna said. “It does affect me personally. Those are my siblings, regardless of the fact that we are half-siblings. We were very close.”

The photo shoot (with services donated anonymously by a professional photographer) took place in September. On September 28, a copy of the photograph was auctioned for $200 at the HDSA-LA Team Hope Walk, which netted $76,000 for the organization.

DeAnna witnessed HD for the first time in 1990 when she was 24 and visited Denise and Donald’s mother and an HD-affected cousin in a nursing home.

“It was the most horrific thing I have ever seen,” DeAnna said. “I was in shock. I learned very quickly that I wouldn’t be able to help my sister. It was obvious. I would be watching my sister suffer and die from this disease, which she did. Taking care of my sister was extremely challenging. I feel compelled to do this, now that my sister is gone.”

Reactions to nudity

DeAnna at first worried whether the photograph was an appropriate form of advocacy.

“I wasn’t sure of how that was going to be perceived,” she confided. However, she quickly adopted a “don’t care” approach because of the urgency of the HD cause.

“We kind of threw this picture around to a lot of people to see what they would say,” DeAnna said. “Not one man said anything sexual about the photograph. And I think they were being honest.”

So far, Deanna has gotten only positive feedback: “If you look at the faces, it’s so gratifying to see the combination of the pain of HD and our determination to do something about it. I think people are seeing that. They are reacting to what they see in the photograph, not that we’re naked. Talking about Huntington’s disease can be very difficult for many people. That’s how #BareYourTruth came out.”

DeAnna’s and fellow advocate #BareYourTruth advocate Rachel Giacopuzzi-Brown’s husbands at first balked at the idea but, after seeing the photo, “totally loved” it, DeAnna said.

A terrifying reality

In early October the women set up a #BareYourTruth Facebook page, where each has explained her connection to HD. Each has added a phrase to the hashtag #BareYourTruth that reflects each's personal story and its broader meaning for the HD community.

“I think there is still the part of me that is terrified to know the truth for fear that I wouldn't be strong enough to handle it,” Adriana Venegas wrote about her decision to test for the HD gene. “#BareYourTruth, even if it terrifies you.”

On November 3, Adriana received her result: she tested positive for the gene. In an e-mail, she told me that she is still mentally processing the result.

“You are my sister in HD,” I wrote her. “I am gene-positive, too. I am here for whatever you need.”

Adriana Venegas (photo by #BareYourTruth)

Seeking media attention

“I am now in my early 40s, with two young children and I am at risk for Huntingtonʼs disease,” wrote Amy Morris O’Keefe. “#BareYourTruth for those at risk.”

“Every day I watch my former Marine husband struggle with memory issues, myoclonic seizures, emotional instability, cognitive function, etc.,” wrote Rachel, who used the phrase “BareYourTruth for your children.” “As these symptoms became harder to hide, we struggled with how to break the news to our three children. In the end we decided that because of the behaviors he was exhibiting it was better to tell them the truth than to have them think that Daddy didn't love them. Ever since that day they have been amazing with him.”

Other women have shared their stories and photos. DeAnna and her collaborators have stimulated further discussion with a series of “truths,” or brief commentaries, about HD. So far, they have published nearly 60, posting several times a week.

Deanna calculated that through the page her story has reached more than 14,000 people.

#BareYourTruth hopes to attract more media attention. The group is producing a two-minute public service announcement that will include a message from HDSA CEO Louise Vetter, DeAnna said. They plan to post the video on Videolicious.com, with the hope that it will go viral.

Catchy initiatives

“Six very cool L.A. ladies,” I texted a friend about the #BareYourTruth initiative.

#BareYourTruth echoes past HD awareness-building efforts such as the “faceless faces of HD” project created by James Valvano, one of the seeds in the creation of the advocacy organization Help for HD International.

In 2014, other thought-provoking and catchy initiatives emerged.

At mid-year, HD-affected writer and blogger Sarah Foster Parker produced an interesting twist on the famous ALS Ice Bucket Challenge – which raised $115 million in a matter of weeks – with the creation of the HD Pie in the Face Challenge. This effort increased HD awareness on Twitter and other social media as well as donations to the HD cause.

HDSA’s Illinois Chapter has started a petition drive to have several of Chicago’s major buildings lit up in blue, the organization’s official color, during HD Awareness Month in May 2015 (click here to read more).

Many other ideas abounded in 2014, too numerous to detail here.

Informing the police about HD

Josh Bane, the nephew of Jeffrey Bane, a West Virginia HD-afflicted man roughly handled by the police as he begged for help, started a Justice for Jeffrey Bane page on Facebook.

Disturbed by the online video of Jeffrey Bane’s mistreatment and the ongoing mishandling of HD patients by police officers, a group of HD advocates set up an information booth at the 121^st Annual International Association of Chiefs of Police Conference in Orlando, FL, October 26-28.

Some 250 individuals, most with no prior knowledge of HD, obtained information at the booth. (Click here to read more).

Josh Bane (personal photo)

A dance, a twitch, and a lion’s mouth

The year brought the release of three documentary films about HD. In January, HD patient and activist Chris Furbee’s 85-minute Huntington’s Dance premiered at the Slamdance Festival in Park City, UT, winning a jury special mention for “most compelling personal journey.”

Stanford University student and HD advocate Kristen Powers launched her short film Twitch, which chronicles her journey to testing for HD. Kristen is currently holding private screenings of the film for the HD community. (I will review the film.)

Director Lucy Walker recently released her short documentary, The Lion’s Mouth Opens, about filmmaker Marianna Palka’s decision to test for HD. The film, which will appear on HBO in spring 2015, has been short-listed for an Academy Award in the short-subject documentary category (click here to read more).

Kristen Powers discussing Twitch in San Diego on October 9 (photo by Gene Veritas)

Scientific progress, but urgency for a cure

Scientists made immense progress on the search for treatments, including the announcement by Isis Pharmaceuticals, Inc., that it will commence a gene-silencing clinical trial in the first half of 2015.

The CHDI Foundation, Inc.,the non-profit virtual biotech focused solely on the development of HD treatments, is preparing to sponsor the landmark Tenth Annual HD Therapeutics Conference in Palm Springs, CA, in February.

Noting the legal existence of assisted suicide in some jurisdictions and also the use of non-approved, still experimental drugs in the race to stave off a worldwide Ebola epidemic, HD advocate Andy Meinen wondered why HD patients could not receive potential drugs still undergoing testing.

“Allow the dying to determine which risks they will choose for themselves,” Andy wrote on his Facebook site. “Ebola is hell, so is HD, give us our treatments now.”

He added in a Facebook message to me: “Once adequately informed of the risks inherent to experimental treatments, patients should have access to those drugs without interference from regulators.”

That’s a controversial idea. (I will explore the context and implications of Andy’s ideas in a future article.) Nevertheless, Andy made a valuable observation about how clinical protocols might need adjustment as both the challenges of disease and the potential of science evolve.

In 2015, the HD community will once again need creative, sharp-thinking advocates to drive home the demand for better care and a cure.

As I enter my eleventh year as an HD blogger, I'll do my best to report on new initiatives.

What’s in a name? How Huntington’s disease gene carriers are seen by themselves and by others

In 1999 I received the results of a genetic test that showed I had 40 CAG repeats on the huntingtin gene inherited from my mother, who died of Huntington’s disease in 2006 after a two-decade struggle with the disorder.

Everybody has this gene, which first appeared 800 million years ago in a species of amoebae. Huntingtin helps our cells function properly.

The gene’s CAG repeats refer to the sequence of three nucleotide bases – cytosine, adenine, and guanine, all building blocks of DNA – on the DNA molecule. Most people have 27 or fewer repeats. The gene I inherited from my father had fewer than 20.

My mother’s high CAG count caused her to start experiencing HD symptoms – typically manifested as emotional distress, cognitive loss, and involuntary movements – in her late forties.

The term “CAG repeats” and my mother’s count of 40 were two of the very first facts I learned about HD after receiving news of her diagnosis in late 1995.

The geneticist used the same terminology when he revealed my test results.

However, as he told me and many other recipients of HD test results, “a positive test result is not a diagnosis.” While everybody with 40 or more repeats will develop HD in his or her lifetime, scientists cannot yet predict the exact moment and type of disease onset.

According to John Warner, Ph.D., the director of biostatistics for CHDI Management, Inc., which carries out the day-to-day mission of the non-profit, HD drug-discovery biotech CHDI Foundation, Inc., 95 percent of those individuals with 40 CAG repeats will experience disease onset between the ages of 50 and 74. (A future article will explore the statistical meaning of the CAG count in greater detail.)

With an ominous test result at age 39 but no symptoms, I needed to construct a definition of my genetic predicament for both myself and for others.

As I said recently in an interview, unlike treatments for certain kinds of cancer, I cannot irradiate my defective huntingtin gene to destroy it. It’s part of me, literally residing in every cell.

Because of its genetic nature, HD also requires a far more nuanced kind of diagnosis. Subtle symptoms can exist for years before the more noticeable symptoms commence.

'Gene-positive'

For many years, I referred to myself as “gene-positive for Huntington’s disease,” a term I heard often in HD family and scientific circles. I also used phrases such as “tested positive for HD.”

“Gene-positive” echoed the term “HIV-positive” used by the AIDS community. It meant not only that I had tested positive for a condition, but that I inevitably faced its dire consequences.

Thus, “gene-positive” resonated with the deep stigma, discrimination, and alienation suffered by members of both the AIDS and HD communities.

“Gene-positive” further implied an activist stance. As with the early years of the fight against AIDS, we in the HD community needed to tell the world we needed treatments and the resources to find them.

I experienced all of these feelings in the late 1990s and early 2000s, as I immersed myself in advocacy work for the Huntington’s Disease Society of America.

They remain with me today as we still await the discovery of an effective treatment.

Changing perceptions

As my knowledge about HD increased, and as I came into ever closer contact with HD researchers in labs and at events such as the annual CHDI-sponsored HD Therapeutics Conference, both my perceptions of HD and the terms I used to describe my situation changed.

As I learned to my first visit to CHDI in 2009, many scientists see gene-positive individuals as genetically and, at least at the cellular level, even functionally compromised from birth.

I started to hear scientists used the word “premanifest” to describe asymptomatic, gene-positive individuals.

Soon I would be introduced to “prodrome” and “prodromal”. A precursor or forerunner to the disease, prodrome refers to the period before onset.

However, I could never imagine using such a technical term to describe myself to others.

Scientists and physicians also used “asymptomatic” and especially “presymptomatic” to describe people like me. I have frequently used the former to indicate to people that I face the danger of HD but am fine for now.

Other phrases I have used or heard include: HD gene carrier; HD gene mutation carrier; asymptomatic HD gene carrier; disease-gene carrier; tested positive for the genetic defect that causes Huntington’s disease; and carry the gene for Huntington’s disease.

Living with the ‘phantom gene’

At the World Congress on Huntington’s Disease in Rio de Janeiro last September, HD activist, historian, and author Alice Wexler, Ph.D., noted that much recent scientific discussion has focused on defining when HD actually begins.

During a panel on coping with HD, Dr. Wexler asked how global HD advocate Charles Sabine and I – both gene-positive but asymptomatic – viewed ourselves as individuals living with the “phantom gene” and in what circumstances would consider ourselves as having HD.

“It changes for me depending on where I am,” I replied. “If I’m at a conference like this: ‘Oh, my God! I have HD.’ Because I see all these studies and brain scans and searches for biomarkers … and references to me as prodromal…. There’s a tendency of the scientific community to see gene carriers as diseased from Day One.”

In settings such as my doctor’s office, I felt different, I said. “My doctor’s telling me: this time you got a clean bill of health.”

Charles, agreeing with my outlook and saying that he “treasured” his current good health, answered the question in a “wider, more metaphysical sense.”

“We are not just someone who’s had a bit of bad luck,” Charles said about having inherited the HD mutation. “We are a part of history. I have absolutely not a single shred of doubt in my mind that, whether it’s 20, 50, or a 100 years [off], that this disease will be managed just like HIV-AIDS can be now.”

You can watch the entire exchange in the video below.

Living with a 'Phantom Gene': Two Huntington's Disease Gene Carriers Discuss Their Perceptions from Gene Veritas on Vimeo.

A new shorthand

The latest conception emerged at the CHDI-sponsored HD therapeutics conference in Palm Springs, CA, last month, where Andrea Varrone, M.D., Ph.D., of the Karolinska Institutet (Sweden) gave a presentation whose title included the phrase “Huntington’s disease gene expansion carriers.”

That phrase very accurately describes someone like me, because it specifically identifies the cause of the disease: an expansion of the huntingtin gene. However, the term does not by itself identify whether a person is symptomatic or asymptomatic.

Nevertheless, it’s good shorthand for the concept of expanded CAG repeats.

However, both the phrase and its acronym, HDGEC, are a mouthful! They might not resonate with the community, and even less so with the general public, which is more familiar with the idea of a “mutated gene” than with the term “expanded gene.”

‘You don’t look like an HD person’

The abundance of terms to describe asymptomatic HD gene carriers reminds me that those of us in this predicament are undergoing “the new and harrowing human experience of living in the gray zone between a genetic test result and the onset of a disease foretold.”

Scientists have demonstrated that changes in the brain occur ten and even 20 years before onset – meaning that my brain may already be seriously compromised, even though I function just fine.

Inexorably, perniciously, but silently, HD attacks the brain.

However, it’s not discernible from the outside.

“You don’t look like a person who has Huntington’s disease,” a health professional told me recently as I contemplated him writhing with pain and discomfort from a knee operation that forced him to wear a brace and use crutches.

There is no particular way for a premanifest person to look! Moreover, no “crutch” yet exists to help the presymptomatic HD brain recover from the initial assault on the cells.

As an HD gene carrier and advocate for this orphan neurological disorder, I continually face the challenge of explaining the seriousness of the disease and its many social implications.

Along with other neurological disease communities, we in the HD community are still searching for the right formula to project the urgency and significance of our predicament.

A temporary escape

Often those of us in the gray zone prefer not to deal with HD. Unlike others in the community, we don’t yet face the minute-by-minute struggle with symptoms.

At the local HD support group meeting this week, I was the only at-risk individual to appear. Even so, the facilitator and her replacement-in-training for the at-risk section (which normally includes both tested and untested asymptomatic individuals) held a session with me. I wanted to help bring the new person up to speed on the history of the support group and the needs of the at-risk section.

We noted that the support group’s caregiver section is usually the largest of the three subdivisions, followed by the section for those already affected.

The at-risk is usually the smallest – even though at-risk individuals outnumber affected individuals nationally by a ratio of at least five to one.

I sympathize completely with the occasional need to “escape” from HD, so I understand why other at-risk people didn’t attend the meeting. However, I am hyper-aware of the need for more individuals to participate in research studies and clinical trials to create effective treatments.

The transition to patient status

The facilitators and I also discussed the difficult choice individuals and facilitators must make in transitioning newly affected individuals out of the at-risk section and into the affected section.

I’ve witnessed this transition for a number of people. I can’t imagine how hard it is.

Once the symptoms begin, the terminological ambiguity ends. They are now “affected” or “symptomatic” individuals. They are “HD patients.”

I anxiously await the moment when an effective treatment would not only ameliorate these and other patients’ symptoms, but also prevent onset in asymptomatic gene carriers.