The end of fear and exclusion: informing my health insurance plan about the risk of Huntington’s disease

In my nearly two-decade journey with Huntington’s disease, I hid my at-risk status not just from nearly all but my closest confidantes, but also from my health plan.

My warily guarded secret exemplifies the deep-seated fears many in the HD community have about denial or loss of insurance coverage. I regularly read or hear about untested at-risk individuals or gene carriers who worry about this issue.

To protect myself from losing coverage in the event of a job change or another of life’s unforeseen challenges, I instead have relied all these years on the Huntington’s disease clinic at the University of California, San Diego (UCSD) hospital. There I have paid out of my own pocket for consultations and established a medical record completely separate from all my other health records.

As a university professor, I have enjoyed the benefits of group coverage, from which it is at least theoretically more difficult to exclude people who have genetic and/or pre-existing conditions. Nevertheless, I have always erred on the side of absolute security, never knowing what life might bring, especially in the period before I obtained tenure and therefore had some but not total job security.

Over the past two months, however, I have initiated the process of informing my health maintenance organization (HMO) that I carry the mutation for HD.

“This is all so ironic!” I said the other day to my wife Regina, the very first person I had told about HD after learning the day after Christmas 1995 of my mother’s diagnosis and my own risk for inheriting the mutation. “I’m now doing what I've avoided all these years.”

Fearing exclusion, I had not resorted to the very system supposedly designed to help me.

Feeling liberated – again

Once again – as I did in definitively exiting the terrible and lonely “HD closet” on November 4 of last year – I feel liberated.

I began to apprise my HMO of HD on August 9 with a visit to my primary care doctor, who has treated me for about six years and with whom I have developed a comfortable and cordial relationship.

I had made the appointment to address a benign skin problem and other minor issues. Finally, at the end of my list of concerns, I came to the most important item. I had rehearsed the scenario in my mind many times. I decided to go right to the point.

Almost matter-of-factly, yet with the feeling of a huge wall coming down from around me, I told him that my mother had died of Huntington’s disease and that I had tested positive.

The doctor maintained his usual professional calm. At first, I couldn’t tell whether HD represented for him just another item on my list or something really significant.

From the ensuing conversation, I was reassured to learn that he clearly knew about Huntington’s disease. He also knew the work of the UCSD HD clinic. In fact, he had previously worked several years in another sector at UCSD.

I handed the doctor a printout of my article “Racing Against the Genetic Clock,” published last November in The Chronicle of Higher Education. He promised to read it soon.

My article, written “to combat the stigma and fear surrounding Huntington’s and other neurological disorders” and “to help galvanize support for increased brain research,” revealed my HD status to the many readers of the Chronicle print edition and website and, significantly, to my professional colleagues in the fields of history and Latin American studies.

It also set the stage for informing my doctors about HD.

“I truly enjoyed reading (your) article during my lunch today and plan to keep it around when I have visitors in the office for them to review,” my doctor wrote in an e-mail later that day.

On a subsequent visit, he showed me the file where he kept my article and others about patients’ responses to challenging health conditions.

Visiting the neurologist

With a referral from my primary care physician, I then scheduled an appointment with one of the HMO’s neurologists in order to establish a relationship with a specialist in disorders such as HD and obtain a baseline reading of my neurological health.

A few days before the appointment, I faxed her a copy of “Racing Against the Genetic Clock” to provide her a detailed picture of my family’s history of HD.

At my October 7 consultation, the doctor thoroughly examined me for signs of classic HD symptoms such as difficulties with memory and the inability to walk along a straight line.

As in previous consultations at the UCSD clinic, the doctor saw no evidence of symptoms.

We discussed the various psychiatric medications that I take to help remain psychologically stable and at least one of which might protect brain cells, according to one of the physicians at the HD clinic.

I added that I would schedule an appointment with my HMO psychiatrist to help in my struggle to deal with both the psychological stress of living at risk and to do all that is medically possible to protect my brain from a disorder for which there is no proven effective treatment.

The neurologist and I also discussed the supplements I take, such as creatine and coenzyme Q-10. She immediately arranged for blood tests to check for any deleterious effects the supplements might have on my kidney and liver. To obtain this same information in the past, I had always gotten these routine tests by requesting a check on the effects of the psychiatric mediations, but without mentioning that I took supplements.

Unfortunately, my HMO will not pay for these supplements, which cost close to $2,000 per year. The health establishment does not recognize them as valid for attacking HD, as they’re in the experimental stage: several such substances have undergone study in mice and even humans.

(Similarly, for more than a decade I have consulted with a private psychotherapist who knows about my HD status but whose services are not covered by any health plan or insurance.)

At the end of the consultation, I welled up with emotion as I thanked the doctor and explained to her how meaningful it was for me to have spoken about HD to a neurologist within my health plan.

Like my primary care doctor, she maintained a professional demeanor. However, I was very happy that she agreed to receive e-mail updates of this blog.

Moving beyond the political and social drama

As I have so far felt vindicated in my decision to go fully public about HD and meld my professional and personal lives with my advocacy, so do I now feel extremely relieved and hopeful about integrating HD care into my overall health care.

By bringing these and other professionals into the HD loop, I am strengthening the team that I will need to manage the inevitable symptoms of the disease.

At the same time, I know that I stand on the edge of history with many other Americans who for the first time are testing the political and social waters in the wake of the passage of the Genetic Information Nondiscrimination Act, signed into law in 2009, as well as Obamacare.

In speaking to people from countries such as Canada and England, where public health systems allow (at least in theory) greater openness about genetic conditions, I recognize how long and difficult the path to medical transparency has been for me individually and for the nation as a whole.

It all seems like such a needless drama, which we have relived again with a U.S. government shutdown resulting from the political impasse over the implementation of Obamacare.

We in the HD community have truly suffered the brunt of exclusion, not only from proper health care, but also long-term nursing.

As I stated in my Chronicle article, “As knowledge increases about numerous other health risks, medical ethics must undergo profound revision, and a genetic-rights movement must arise. To borrow one scholar’s phrase, disease-gene carriers like me are ‘moral pioneers’ on the genetic frontier.”

During these past few weeks, I have felt very strongly that pioneering aspect of my life. I’m thrilled now to have my HMO joining me on this journey.

(Next time: Huntington’s disease and bioethics.) 

It’s time for the Huntington’s community to speak out – and HDSA is listening

The HD community has a golden opportunity to both strengthen and shape the future of the Huntington’s Disease Society of America (HDSA) and its mission of care and cure – a mission that some grassroots advocates have seen as not fully encompassing their concerns and struggles.

With a deadline of February 24, a task force of the HDSA Board of Trustees seeks feedback on a proposed strategic plan for the years 2012-2016.

“Before the Plan is finalized and implemented, we want to receive input from all interested members of the community,” HDSA CEO Louise Vetter wrote in a letter posted on the HDSA website. The letter contains a link to the plan. A feedback form is located at the end of the letter. Click here to read the letter.

“The Strategic Planning Task Force spent hundreds of hours over 18 months conducting data review, community surveys, and holding discussions with individuals from every constituency of the HD community,” Vetter stated in the letter. “They used this information to assess the business of HDSA and develop this Plan for the growth of the Society, so that we can provide more services to families affected by HD and fund more research that can improve our knowledge base on HD and therefore lead us closer to effective therapeutic interventions.”

The task force included Vetter, HDSA Board of Trustees Chairman Donald Barr, and four other board members.

HDSA CEO Louise Vetter and Board of Trustees Chairman Donald Barr (photo by Gene Veritas)

As the 2011 HDSA Person of the Year and a former board member of the San Diego chapter, I urge everybody in the HD community to become familiar with the plan and provide comments. While the Board of Trustees and the HDSA professional staff in New York City perform key leadership functions, the chapters and volunteers are the lifeblood of the organization.

We are HDSA, and it’s up to us make our voices heard.

Below I present an outline of the plan as well as my own suggestions for improving it.

Plan introduction: balancing care and cure

The first eight pages of the 39-page document provide an overview of HDSA’s values, mission, and community.

As the document states, the organization’s last strategic review took place in 1998 – well before dramatic advances in both communications and science. Since then, scientists have come much closer to understanding HD. We now stand on the verge of revolutionary clinical trials.

It’s important to point out that the CHDI Foundation, Inc., the so-called “cure HD initiative,” which spent approximately $100 million in 2011 and has a far more narrow focus than HDSA, has emerged as the non-governmental sector leader in developing potential treatments (click here to read more).

HDSA’s current budget is approximately $8.5 million. According to the 2009-2010 annual report, 26 percent of the budget went to family services, 20 percent to fundraising, 20 percent to chapter development, 17 percent to education, ten percent to management and general expenses, and just seven percent for research.

Those amounts are a far cry from the early 2000s, when HDSA annually spent millions on research.

Vetter told me in an interview in May 2011 that HDSA will strive to increase its budget to as much as $20 million. For now, however, the proposed strategic plan aims for more modest annual increases of five percent, with a goal of raising $10.2 million in 2016.

Despite CHDI’s massive investment in research, the HDSA plan proposes a continued commitment to both “care” (services, education, and advocacy) and “cure” (research). As I discuss below, HDSA aims to launch a new research program, which would complement research done by CHDI and also the Hereditary Disease Foundation (HDF).

I agree that HDSA should continue to sponsor research, but I believe it should also invest more in other areas.

In the past, HDSA has primarily supported basic research, that is, research that leads to a deeper understanding of the disease but not necessarily to immediate application as a treatment or cure. CHDI now focuses on what is called the “treatment pipeline,” the search for ways to delay or halt the progression of HD using the knowledge of basic research created by others but also through its own projects.

Of course, in this fast-paced era of biotechnology, the line between basic and applied research has becoming increasingly blurred. Frequently, scientists can quickly turn new basic knowledge into a strategy for a treatment or cure. In this respect, the HDSA plan for continued research makes sense. CHDI and the HDF will continue to perform the bulk of the research, but HDSA-sponsored research will likely turn up new clues and perhaps even potential treatments.

The more brains we have working on treatments and a cure, the better our chances of success.

A community service organization

Crucially, the strategic plan recognizes the key part played by HDSA’s 21 Centers of Excellence in providing assistance to HD patients and their families and serving as a focus for patient research and clinical trials. The creation of the Centers has given greater visibility and some additional funding to local HD clinics around the country, practically all of them associated with universities. Annually the Centers each receive about $50,000 in support from HDSA.

“The Society will seek to enhance the Centers’ role in clinical research by creating linkages with the new research program,” the document states. “Imagine if a basic scientist who was used to testing hypotheses in mice could finally test a theory on human blood samples made possible by a Center of Excellence?”

The plan involves expanding “care” from “family” services to “community” services.

“HDSA is committed to offering programs that can have the broadest impact and affect the most lives,” the document states.

The meaning of expanded care

In my opinion, the shift in emphasis from “family” to “community” stands out as the most important aspect of the plan. In light of CHDI’s emergence, I believe that HDSA can best support the cause by focusing on services to HD families, raising awareness, and recruiting individuals for research studies and clinical trials.

Indeed, the second part of the plan (pages 9-13), which outlines the seven major goals of the strategy, begins with “Goal I: Build an HD Community-service organization.”

To achieve this goal, the document sets forth four “core strategies”: 1) expanding access to clinical care; 2) enhancing social services and support resources; 3) improving access to long-term care facilities skilled in HD; and 4) increasing access to counseling.

To implement these goals, the plan proposes a series of actions. I’d emphasize two: the strengthening of the Centers of Excellence and the “development of a regional network of social workers to augment the existing National and Field-based social workers.”

The staffs of the Centers and social workers regularly come into close contact with the patients and their families. They provide the vital services and first-hand information that families so desperately need in the fight against HD. And, as HDSA recognizes, the Centers stand in the best position to help implement clinical trials.

The next six goals support the idea of community service: support of HD research, removing barriers to quality care (legislative advocacy), communication, expansion of the volunteer base (click here to read my previous analysis of this question), operating in a fiscally sound manner, and fundraising.

Trying too hard to catch up on research?

Despite the emphasis on community service and the clear movement away from pitting care against cure, the document left me with the strong impression that the task force has thought more about questions of research and less about other organizational needs such as advocacy and volunteer recruitment.

While the task force established yearly goals for all seven of the major strategic goals, it included an appendix only for research – a three-page synopsis of an HDSA research planning meeting held in April 2011. In this section (pages 37-39), I could sense the renewed commitment of HDSA to make a difference in HD research.

There and elsewhere in the plan, the task force mentioned the need to hire a “medical-scientific director to oversee and coordinate research programs.” The director would help lead HDSA’s efforts to educate the community about the importance of clinical trials and “deepen our partnerships” with other organizations seeking treatments and a cure.

The plan seems solid, in part because it gives the medical-scientific director the task of education on clinical trials.

Furthermore, the document reveals that the national board aims to end a difficult situation of delinquent payments to researchers – a situation that practically brought the Coalition for the Cure research program to a halt. According to the 2009-2010 annual report, the seven percent of the budget that backed research amounted to just $370,000. In informal conversations, I have heard that HDSA spent practically nothing on research in 2011.

Fortunately, CHDI’s large investment in research has counterbalanced HDSA’s diminished role.

However, precisely because of CHDI’s huge role in research, grassroots volunteers might wonder why other areas of the strategic plan did not receive a more detailed plan of action, not to mention the possibility of hiring, when possible, additional specialized personnel in areas such as advocacy and volunteer recruitment.

Local needs

As I wrote previously, “I believe it’s implicit that the chapters and volunteers, as usual, will need to take the initiative locally” with respect to volunteer recruitment and other activities.

To cite just two examples of local need: HDSA should increase funding to Centers of Excellence for programming and staffing, and the all-volunteer chapters could also benefit greatly from increased clerical and other paid staff support.

As someone who came to HDSA through a support group, I would have liked to see a more detailed discussion of these groups’ importance.

I agree with the plan’s assertion that “personalized support, like financial aid or case management, for every family facing HD is not realistic for the Society given our budget.” Nevertheless, I definitely believe that, along with our families, HDSA should brainstorm on how to help relieve the tremendous and often financially crippling care burden of HD. One possibility frequently mentioned in HD Facebook discussions involves support for local, private assistance initiatives. HDSA could partner with these initiatives and help raise their profile.

As a disease community, we need to become more creative in these areas – including better information for families seeking specialized nursing home care for their loved ones.

Communications and advocacy

I believe that the plan overreaches by aiming to make HDSA the “premier communicator of HD information.”

The community obtains information from a wide variety of sources. Hundreds (if not thousands) of families rely on HD Facebook communities and other sources of HD news. So far, HDSA’s presence on Facebook is limited, although the strategic plan briefly mentions the need to expand the use of the social media for advocacy and fundraising. HDSA might also promote a communications network in which it can play a key coordinating role.

In conjunction, it could form a kind of “HD news service” in which volunteers could report on HD issues in their local communities and share news items and articles with the national organization.

While HDSA has made important strides in advocacy, I believe the organization should invest even more in this area and assure long-term continuity of specific programs and initiatives. In recent decades, the organization has too often started from scratch, leaving the volunteer base confused and making advocacy inefficient. The organization also should promote greater awareness of the history of HDSA as an entity founded by a great HD advocate – Marjorie Guthrie – and partly dedicated to the memory of another great advocate of humanity – her husband Woody Guthrie.

Optimism – if we participate

I am optimistic that HDSA can reach these many goals and inspire people to become active.

We need to keep in mind that HDSA has limited resources – but also that, ultimately, we grassroots activists, volunteers, support group members, chapter board members, relatives, friends, and supporters are the organization’s most important resource.

To its credit, the HDSA Strategic Planning Task Force has defined its plan as an “active, living document” to be “reviewed regularly to revisit timelines, push progress and help the Society evaluate opportunities.”

Let’s not pass up this unique opportunity to express our opinions and make a real difference in the future of HDSA.

***
In my previous article, I mentioned that the A Physician’s Guide to the Management of Huntington’s Disease was not available online. HDSA will put the guide online following the 2012 national convention, June 8-10, in Las Vegas.