Dance of Death
BY DIRK KUNZ
An insidious genetic disease killed almost all of Ursula S.’s family. Because her mother in-law didn’t want to give up having grandchildren, she concealed the family’s genetic defect. The risk of inheriting the disease is 50%
Anton S. the father in law brings the insidious illness into the family. A family member describes him as quick-tempered, somewhat aggressive, choleric and restless. No one could identify his disease based on the symptoms. Its effects were interpreted as post-traumatic stress disorder, which he brings home from World War II. Traumatized soldiers often suffered from uncontrolled tremors and difficulty concentrating after combat missions in World War I and II. People first assumed that Anton had Parkinson´s disease. When Ursula S. began dating her future husband, the family hid the already sick father in law. He came to Hessen in the 1930s as a soldier from a small village in the Ruhr region with a population of only one hundred. Ursula remembers quite well how friendly her future parents in law were, but later she felt strange. This was the richest family in town; her own family she considered to be poor. “For a very long time there were no children in this house, and we are looking forward to the new perspectives,” says the mother in law. After a year, there is still no baby. The grandmother in law chastises the couple: “Please don´t stay childless. Don´t do that to us.”
Some day the mother in law calls Ursula at her office. She should come home immediately, as Arnold was non-responsive. She hurries home, but Arnold had already been taken by ambulance to the hospital. In the hospital, they pump his stomach. Devastated by the prospect of his degenerative disease, he tries to commit suicide and takes an overdose of sleeping pills. As he awakes, he says: “I wish you had let me go.” The suicide attempt is kept secret, because the family wants to avoid gossip in the small village. In the early 1960s, Ursula’s mother in law travels with her son to the city of Tübingen to see a professor. It is unknown why she is goes there, or how she even found the address. The doctor diagnoses the genetic defect for the first time. She keeps the test results private, and tells neither her son nor his spouse. She keeps quiet, even when Ursula becomes pregnant for the first time in 1967 with her daughter Carmen and even one year later, when her son Thorsten is born. Later, she visits Arnold with her daughter in law every weekend in a psychiatric hospital. In 1974, he dies at age 59 after suffering ten years of acute illness. It’s not until 1990 when the mother in law dies that Ursula finds files in which the illness is documented: Huntington’s disease.
Six years after the father’s death, and shortly after a promotion as senior civil servant in the 1980´s, Hans-Werner, suddenly tells his wife Ursula that he doesn’t feel capable of doing his job properly anymore. He takes a two year-long sick leave, yet no doctor can help him. A professor at a university hospital finally diagnoses Hans-Werner. At home, the 39 year-old tells Ursula “I have my father’s illness!” It seems that neither of them are aware of the terminal nature of this incurable illness. “If it doesn’t progress, we can live with the disease,” both say. But it does progress.
His wife Ursula takes care of her husband, mostly alone. He is not capable of shaving. She brushes his teeth, as one day he forgets to rinse after brushing. He has hallucinations. Nevertheless, the wife walks with him every day. Toward the end, he enters hospice. Like a lot of Chorea-Huntington patients, Hans-Werner is confined to bed and ultimately dies from the effects of a respiratory disease in his wife’s arms.
At the time, their son Thorsten is 23 years old and says: “I don´t want to die like that.” He will not; he dies more slowly and painfully. After an internship at a bank, he joins the military. It takes him three times as long to clean his gun as it does his brothers-in-arms. According to his mother, Thorsten’s superiors think he’s being insubordinate and have him court martialed several times. Thorsten begins to numb his pain with alcohol. It seems he already knows what awaits him.
Further neurological symptoms appear; his gait is unsteady and his hands tremble, but it’s not a result of drinking. In his apartment, he forgets several times to turn off the stove. One day he calls his mother and tells her that he can’t live alone anymore. He wants to throw himself off a 160-foot tall bridge. He stands at the top, but is unable to jump. He finally agrees to check himself in to a psychiatric facility. He often escapes and starts bar-hopping. Once he’s three sheets to the wind, he returns to the facility. He tells his mother that he wants to make friends, and he’s not sure how long he’ll be able to do so. Ursula and Thorsten don´t talk about the illness. Thorsten is incapable of having that conversation, also because of his alcoholism. He also has no living will. He goes into intensive care and lies in bed for ten years. His toe has to be amputated because of circulatory issues.
In 2011, on Thorsten’s 43rd birthday, Ursula visits her son in the hospital. She says that the liquid from his feeding tube is running out of his mouth. She calls the caregiver and the next day Thorsten is transferred to a hospice for the terminally ill. They remove the feeding tube and take him off life support. The mother visits her son, holds him, and tells him stories about heaven, where he would see his father and sister again. He dies only three weeks later.
Thorsten´s sister Carmen falls severely ill twelve years after his brother´s illnes occurs and dies five years before him. Her first child is born in 1995 and an amniocentesis reassures her that her son is healthy. In 2004, she becomes pregnant again with a different husband. During her second pregnancy, she begins experiencing the jerky and uncontrollable movements typical of Huntington’s. Her mother discourages her from the continuing the pregnancy, but Carmen refuses to discuss an abortion. Any time her illness comes up in conversation, Carmen withdraws and becomes angry. She doesn´t want to have her unborn child tested, and she refuses even to consider discussing it with her husband. The hormones, said Ursula, had sped up the progression of the disease. Carmen needs round the clock care and dies two years after the birth of her second child from a pulmonary embolism, caused by dehydration. Ursula finds many handwritten notes amongst Carmen’s things. The letters show that Carmen wanted to organize her life as a means of controlling it: clean the dishwasher, call her husband, vacuum the living room, go for a walk. Her second untested child is today eleven years old. She tells herself that he probably doesn’t carry the genetic defect. Bolstering her courage, she says “He doesn´t look like he has the disease.”
Approximately 8000-10000 people in Germany suffer of this neurodegenerative genetic disorderthat affects muscle coordination and leads to mental decline and behavioral symptoms. Physical symptoms can begin at any age from infancy to old age, but usually begin between 35 and 44 years of age. A protein called Huntingtin kills nerve cells in certain areas of the brain, which are responsible for important functions of the body control, but also for the mental health. The American doctor George Huntington realized first, that it is a genetic disease.
The most characteristic initial physical symptoms are jerky, random, and uncontrollable movements called chorea . The alternate eponym, “Vitus Dance”, is in reference to Saint Vintus a Christian saint who was persecuted by Roman emperors and died as a martyr in AD 303. Saint Vitus is considered to be the patron saint of dancers. In the middle age people thought probably because of the strange movements that the patient suffers under frenzied dance.
Prof. Dr. Saft, is the report above a typical example of the symptoms that people suffering from Huntington’s disease (HD) experience?
Dr. Saft: Such cases can occur. Normally the disease emerges at the same age that the parents became sick. In this particular case, the disease can occur earlier, especially if it is inherited from the father’s side, but it doesn’t necessarily have to be that way. In exceptional cases, the gene could be unstable, mainly when the gene is inherited from the father’s side. The father in-law’s easy excitability and aggression do not always indicate Huntington’s disease, but it does occur.
In rural Germany, as recently as 70 years ago, mental illness, disability, and infertility faced even bigger stigmas than they do today. Looking at it this way, the mother in-law’s actions are a bit easier to understand. Does this still happen today?
Dr. Saft: The willingness to talk about the Huntington’s disease has increased significantly. Now there are many support groups, internet forums and Huntington’s disease centers, where those suffering from the disease can take part in [medical?] studies.
It seems also that alcohol abuse played a role in this family. Is there a general connection between alcohol abuse and Huntington’s disease?
Dr. Saft: There are indeed patients who feel internal stress and want to relax. They self-medicate with alcohol, but that is not typical for HD-patients. I hesitate to call these people alcoholics. But I have noticed a disproportionately high number of tobacco smokers among our patients.
Carmen´s mother said that her second pregnancy triggered the disease. Can you explain that from a medical point of view?
Dr. Saft: I doubt there is a connection. I assume that it is the mother’s way of explaining the situation. It is possible that changes in hormone levels have an influence on uncontrollable and spastic body movements, but in that particular case, I think the connection is coincidental.
Is it legal for a pregnant woman to have an abortion after receiving a positive HD diagnosis?
Dr. Saft: Because of the German Act of Gene Diagnostics (“Gendiagnostikgesetz”), it’s illegal to conduct a prenatal examination of embryos to diagnose a disease that manifests in adulthood.
However, there has been a rise in pre-implantation genetic diagnosis centers where child-seeking couples who have a history of HD in their family can apply. An ethics committee decides whether testing for chromosomal abnormalities is possible. During the pre-implantation genetic testing, the eggs are harvested and fertilized with the partner’s sperm. After about three days, the embryo is made up of eight cells. 1-2 cells are removed and tested for the Huntington mutation. Finally, one or two of the embryos are implanted in the woman’s uterus.
Carmen’s mother hopes that Carmen’s second child doesn’t carry this genetic defect. She said to me, her grandchild doesn´t look like that he would have the disease. What do you think aboaut that?
Dr. Saft: You can´t say that. Before the disease produces symptoms, there is no certainty without testing. You can feel absolutely healthy and fit, and nevertheless be a carrier of the mutation. It has nothing to do with whether you look like one parent or not. You must consider very seriously whether you want to know if you have the disease. A lot of carriers don´t want to know; they prefer to hope that maybe they don´t have the defective gene. It is important to take some time to consider some issues before testing. Ask yourself, “do I need total permanent disability insurance or long term care insurance?” You should also get counseling by a center specializing in human genetics.
How do people affected by the illness deal with it?
Dr. Saft: I know families in which the healthy spouse takes care of their sick partner for decades and later must be a caretaker for his or her children. These people are so brave; I admire them.
Will there be a cure for HD in the foreseeable future?
Dr. Saft: With medication we can ameliorate the symptoms of the disease, to reduce the uncontrollable movements, curb the depression and irritability. In these areas, intensive research is well underway. But there is still no medication to slow progression of the disease. But even so, new studies are coming out seeking to change the progression of the disease.
Since the identification of the genetic basis of HD in 1993, researchers have made excellent progress. The pharmaceutical industry hopes that HD research will also produce solutions for other degenerative central nervous system disorders, such as Parkinson’s or Alzheimer’s disease.
I would recommend patients, carriers, and people with Huntington’s in their families visit a counseling center for advice. You can find up to date information on progress in HD-research here.
Prof. Dr. Saft, thank you very much for the interview!
Professor Dr. Carsten Saft is the senior physician at the Catholic Clinic St. Josef’s Hospital in Bochum. He is the head of the clinical department at the Huntington’s Disease Center in North Rhine-Westphalia, Germany.
Translation into the English language by Shellie Anne Labell & Dirk Kunz.
In an older version of the article a photo of Carmen and another one of Ursula and Hans-Werner S.´ wedding were contained. Later Ursula asked me, not to publish these two images anymore. Of course I honoured that request.