Penitence

Content Warning: This section of the guide includes discussion of illness and death.

Huntington’s Disease is an inherited disorder that causes a gradual decline in both cognition and the body’s ability to move normally. It is caused by a genetic mutation passed down from parent to child. When one parent has the gene that causes Huntington’s Disease, each of their children has a 50 percent chance of inheriting the mutation. The disease causes nerve cells (neurons) in certain areas of the brain to gradually stop functioning and eventually die. It primarily attacks parts of the brain that control voluntary movement, although there are typically other areas of brain function that are also affected. 

Individuals living with Huntington’s Disease develop uncontrollable movements called “chorea” that often resemble dance. They also struggle with uncontrollable, abnormal body postures, behavioral abnormalities, and impaired cognition, speech, and affect. The hand spasms that Julian experiences are a classic, early sign of Huntington’s Disease and are often the first kind of chorea that develops in individuals experiencing the disorder. Other early symptoms include clumsiness, issues with balance, and trouble walking or moving normally. Some Huntington’s patients experience a painful, uncontrollable rigidity instead of chorea and have fixed postures called dystonia. 

There are also emotional and cognitive symptoms: Individuals living with Huntington’s Disease can experience psychiatric distress or, like Nico, find themselves unusually moody, frustrated, or quick to anger. Their memory gradually declines, and many Huntington’s patients experience problems with attention, problem-solving, judgment, and decision-making. Eventually, Huntington’s patients might lose the ability to speak without slurring and experience problems eating and swallowing. Many people living with Huntington’s report weight loss because of how difficult eating becomes. Energy levels also gradually decrease, and wheelchairs are common for patients in the later stages of Huntington’s. Most patients are diagnosed in adulthood. Julian’s case is much more common than Nico’s, although juvenile Huntington’s does occur. Huntington’s is a degenerative disease and progresses until patients are unable to work, live alone, or care for themselves. The average lifespan after diagnosis is 15 to 20 years. Huntington’s is always fatal and, in its final stages, results in dementia. 

There is no cure for Huntington’s, but there are standard diagnostic tests and palliative treatments available. Huntington’s is typically diagnosed after a neurological exam, during which a neurologist conducts a thorough, detailed interview to better understand both the patient’s symptoms and their family history. Because Huntington’s Disease is a genetic disorder passed down from parent to child, it is typically present in a patient’s family medical history. In addition to an interview, a neurologist will also test a patient’s reflexes, balance, and muscle performance and observe the patient doing a variety of movements. They also perform hearing and cognitive tests, and a neurologist might also consult specialists like psychiatrists, genetic counselors, speech pathologists, or clinical neuropsychologists to get a more holistic picture of the patient’s physical, mental, and emotional changes. Imaging tests like MRIs or CT scans can also help neurologists identify areas of shrinkage within the brain and understand how far the disease has progressed. Genetic testing, like Angie and David undergo, can identify which parents carry the gene and additionally confirm or rule out the presence of other disorders that might also be impacting the patient. 

Although there is no “cure” for Huntington’s Disease, there are medications prescribed to treat various symptoms. Tetrabenazine and deutetrabenazine treat chorea and help patients maintain normal activity levels as the disease progresses. Antipsychotic medications can also alleviate chorea and have the additional benefit of controlling hallucinations, delusions, and the kind of psychiatric distress that Huntington’s patients often experience. While Julian had not yet begun to have serious psychiatric symptoms, his moodiness and heightened frustration levels represent the beginnings of what ultimately leads to more severe symptoms. Drugs to treat depression and anxiety are often prescribed to Huntington’s patients, especially during the early stages of the disease when patients are still coming to terms with the difficulty of their diagnosis and adjusting to the way that the disease’s progression impacts their lives.