Huntington’s disease has a reputation for being a “rare” disease. Statistics say that only about 30,000 people in the United States are affected by this disease. Yet 15 years ago, when a Florida clinic was recruiting subjects for one of the first clinical trials, the phone began ringing constantly….it seemed that 28,000 of those affected must live in Florida!
Today, social media is alive with people affected by Huntington’s disease. Facebook and multiple blogs cater to caregivers, gene positive people, or people at risk. The participation on these sites is overwhelming for such a “rare” disease. It appears that Huntington’s may not be as rare as once thought…so where are all these “ghosts” hiding that make Huntington’s such a “not so rare” disease?
Indeed, there are many “ghosts” that contribute to the “rarity” of Huntington’s disease. And the first and perhaps the greatest of these are family “ghosts,” or secrets that are not shared even within the family. So many times, a newly diagnosed patient is surprised and bewildered by being diagnosed with a genetic disease and has no knowledge of the disease ever being present in the family. A little digging through family history turns up stories of a grandfather who was thought to be an alcoholic, a crazy aunt who lived in a mental institution, an abusive parent who abandoned the family, or secretive cousins who had little contact with the rest of the family, and other tales considered too taboo to share or pass on to younger generations. The patients find that they are not alone; there were many “ghosts” in the closet before their diagnosis.
Perhaps the main reason the “ghosts” were relegated to the anonymity of the closet was fear. Fear is the strong motivator for fight or flight…and many families chose flight…as far away as possible. No one would want to live with disgrace, stigma, shame, or worse, experience the pity of their society.
The Puritanical practices of the earliest settlers in New England punished deviance from societal norms severely. Although it is no secret that several men affected by the “dancing” disorder called St. Vitus’ dance came over with Governor Winthrop[1] to the Massachusetts Bay Colony, only two chose to remain. Others may have come on other ships, but their history is not so clearly reported. When the motor symptoms of the affected men became so obvious they could no longer be disguised, the uncontrollable movements were considered to be punishment for their sins. Later, affected women were accused of dancing with the devil or of being witches. (None of the witches of Salem were affected with St. Vitus’ dance, but the witch of Groton, Connecticut, was hung for allegedly being inhabited by the devil.[2])
As the colony grew and time passed, other members of other families were also recognized as having St. Vitus’ dance. By the 1850s, medicine was advancing, and physicians noted that St. Vitus’ dance was a “curious” disease that ran in families. These physicians were more interested in identifying people afflicted with this disease than in treating the symptoms. Affected families tended to keep their own counsel and remained somewhat isolated from the general population but followed the same occupations and kept the same social standards as their neighbors. Within their own communities, affected people held positions of respect and were elected to local offices until their symptoms prevented them from carrying out their duties. They were not overtly discriminated against, but their differences were noted.[3]
By 1872, George Huntington had become the third generation of his family of physicians to treat the community of East Hampton, Long Island, where many families affected by this disease lived. No longer simply interested in identifying people affected with St. Vitus’ dance, he began to study the disease as a science and wrote the description still used to this day. Because of his interest, study, and astute description, the disease became known as Huntington’s chorea.[4] He called it a chorea, which comes from the Greek word for dance or dancer (khoreia) because of the dancelike movements. (Later, the name was changed to Huntington’s disease because not everyone develops the motor symptoms of chorea.)
Dr. Huntington correctly made the association that it was a hereditary disease, but unfortunately, he described the cognitive and psychological symptoms as “insanity,” which shifted the way in which the disease was understood from a benign manifestation to a medicalized disability that brought a negative aspect or stigma to the affected families. Families with Huntington’s disease began to be perceived as detriments to society who were prone to have too many children. Also, at this same time, medical “science,” such as it was at the time, became focused on building a society that was disease free and had only good genes. This was the beginning of the Eugenics Movement.[5] (The word eugenics derives from Latin, “eu—” meaning good and “genics” referring to genes.) The United States was not alone in the Eugenics Movement. Europe, too, and particularly Germany, shared this view. Hitler used eugenics to justify his deliberate and harsh programs to eliminate those he considered unfit for his program. Opinion at that time was that anyone from a family that included members diagnosed with insanity should not be allowed to marry or to have children. In the U.S., Indiana was the first state to pass mandatory sterilization laws in 1907. That law read that sterilization was necessary for “prevention of the procreation of confirmed criminals, idiots, imbeciles, and rapists.”[6] More than 60,000 men, women, and children in the U.S. were sterilized without their consent before individual states found the laws unconstitutional and voted for their repeal. Not until the end of the 1970s were the final laws passed that made forced sterilization no longer legal in any state. It is not hard to see why prior generations would choose to keep their “ghosts” firmly locked in closets and never share their secrets with anyone.
The 1960s was a decade that brought attention to social ethics and reform. Mental health began to receive more recognition as a disease, civil rights moved front and center, and the feminism movement saw improvements in reproductive health and medicine for women. Science was changing due to better education, and research began to focus on causes and treatments of disease. Many of the drugs used today to treat illnesses were developed after this time. By 1984, the gene that causes Huntington’s disease had been found.[7] In 1994, the genetic test to determine if an individual would develop the disease had been developed.[8] But it was expensive, and few doctors even knew about it.
Medicine was also growing by leaps and bounds. The independent family physician who treated all members of a family for anything and everything from birth to death was being replaced by doctors who specialized in different diseases and specific areas of medicine. Medical care moved into medical clinics organized by the corporate world, and insurance dictated practice guidelines. Specialists became even more specialized; for example, neurology now has specialists who deal exclusively in stroke or epilepsy or movement disorders or multiple sclerosis or autism, etc., etc.
Today, there are now more than 20,000 known common illnesses. So it is easy to see why many doctors may never have received any training to recognize the symptoms that lead to a diagnosis of Huntington’s disease. The early symptoms are often vague and can be indistinguishable from symptoms for other diseases. Also, there is no general x-ray or laboratory test, such as can identify many other illnesses, which can specifically identify Huntington’s, only the specific genetic test. Without previous experience with this disease, doctors may have a very hard time trying to find what is going on with the patient. Or they may see the symptoms in terms of diseases with which they are familiar and do have more experience.
Patients, too, may not be acting in their own best interests. Lack of knowledge of family history is a big issue. Slightly more advanced symptoms also include anosognosia, or “organic denial,” the total inability to see what is happening to them, even though caregivers may insist there is a problem. Constrained by time and number of patients, doctors rarely have enough face-to-face time with the patient to fully assess family histories and must focus on evaluating the symptoms the patient does complain about. Unless a physician has had previous experience with Huntington’s patients, coaxing out the realization of other symptoms from a patient who is unaware or in denial may be exceedingly difficult.
Many doctors are unwilling to consider a diagnosis of Huntington’s until well after the motor symptoms or chorea presents. The psychological or cognitive symptoms which usually present first are treated the same way whether or not they are part of Huntington’s. And even if the physician does suspect Huntington’s, genetic testing is needed to confirm the diagnosis.
Through the development of social media and the internet, awareness of this disease is increasing. National organizations and local groups are bringing attention to the problems faced by families affected with this disease. Social stigma and discrimination are also lessening as affected families band together and find support and encouragement from each other. Changes in insurance regulations have helped ensure that coverage for “pre-existing conditions” is now mandated. Research into causes and treatments for this disease has expanded tremendously since the year 2000, and with it, education of both doctors and families. As science continues to advance the search for the cure, the “ghosts” of Huntington’s will be vanquished, never more to haunt or add further anxiety to already distressed families.
[1]Winthrop, John; Dunn, Richard; Savage, James; Yeandle, Laetitia. The Journal of John Winthrop, 1630–1649. Cambridge, MA: Harvard University Press, 1996.
[2] Samuel Willard, A briefe account of a strange & unusuall Providence of God befallen to Elizabeth Knap of Groton in Samuel A. Green, ed., Groton In The Witchcraft Times. Groton, MA: [s.n.] 1883.
[3] Arthur Kleinman. Writing at the Margins: Discourse between Antropology and Medicine. Berkeley: University of California Press, 1995.
[4]George Huntington, M.D. “On Chorea,” The Medical and Surgical Reporter: A Weekly Journal. Philadelphia: S.W. Butler, vol. 26, no. 15, April 13, 1872.
[5] Diane B. Paul. Controlling Human Heredity, 1865 to the Present. Amherst, N.E.: Humanity Books, 1998.
[6] http://www.iupui.edu/~eugenics/
[7] Gusella, J. F.; Wexler, N. S.; Conneally, P. M.; Naylor, S. L.; Anderson, M. A.; Tanzi, R. E.; Watkins, P. C.; Ottina, K.; Wallace, M. R.; Sakaguchi, A. Y.; Young, A. B.; Shoulson, I.; Bonilla, E.; Martin, J. B. “A polymorphic DNA marker genetically linked to Huntington’s disease”. Nature, 306 (5940): 234–238, 1983.
[8] “Guidelines for the molecular genetics predictive testing Huntington’s disease.” Neurology 44: 1533–1536, 1994.