Welcome to the Huntington Disease Awareness Bloodspot
As a genetic counselor with the Huntington Disease Awareness Foundation, this blog is designed to help guide future parents through the potential risks of a positive test result, how to have children without facing risks, symptoms of the disease and the treatments, and understanding the entirety of Huntington Disease. (Plesae note this is for a school project and is no way associated with any Huntington's Disease Foundation, nor am I a professional of any sort)
What is Huntington's Disease?
Discovered in 1993, Huntington's Disease (HD) is the genetic disorder that ultimately "diminishes the affected individual's ability to walk, talk and reason" (HSDA) through the breakdown of (degeneration) of nerves cells in the brain. Huntington's disease usually causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms. Normally found in adults between ages 30-40, there are rare cases when children suffer from the disease as well (normally before the age of 20 it's called Juvenile Huntington's Disease).
Huntington disease is caused by a genetic defect on chromosome 4. The defect causes a part of DNA, called a CAG repeat, to occur many more times than it is supposed to. Normally, this section of DNA is repeated 10 to 28 times. But in persons with Huntington disease, it is repeated 36 to 120 times.
As the gene is passed down through families, the number of repeats tend to get larger. The larger the number of repeats, the higher your chance of developing symptoms at an earlier age. Therefore, as the disease is passed along in families, symptoms develop at younger and younger ages. (Medline PLUS)
(Sample Pedigree of a family with Huntington's)
Symptoms
Cognitive
- Problem with short term memory
- Problem with concentrating
- Problem with organizing
Motor
- Muscle problems, such as rigidity or muscle contracture (dystonia)
- Uncoordination
- Fidgety behaviour
- Difficulty with speech, swallowing, walking
Behavioral/emotional
- Irritability
- Depression
- Anxiety
- Aggressive outbursts
- Mood swings
- Social withdrawal
(HSDA)
Common Treatments
There is no true treatment to Huntington's Disease. Scientists are working on one now, but there are no promises. But medications can lessen some symptoms of movement and psychiatric disorders. And multiple interventions can help a person adapt to changes in his or her abilities for a certain amount of time (Mayo). Some medications include:
Tetrabenazine (Xenazine): This medication is specifically approved by the Food and Drug Administration to suppress the involuntary jerking and writhing movements (chorea) associated with Huntington's disease.
However, side effects of this medication are the triggering of depression, drowsiness, nausea, and restlessness (Mayo).
Antipsychotic drugs such as haloperidol (Haldol) and chlorpromazine: Side effects of this drug is reducing movements, which is beneficial to the motor problems faced by those suffering from HD.
The drugs might possibly worsen the ridgitiy of the muscles and cause more issues.
Other medications that may help suppress chorea include amantadine, levetiracetam (Keppra) and clonazepam (Klonopin). At high doses, amantadine can worsen the cognitive effects of Huntington's disease. It may also cause leg swelling and skin discoloration.
Side effects of levetiracetam include nausea, stomach upset and mood swings. Clonazepam may worsen the cognitive side effects of Huntington's disease and cause drowsiness. It also has a high risk of dependence and abuse.
Occupational Therapy: This is a mechanism in which an occupational therapist assists the patient at home and help the families and caregivers use assistive devices that improve functional abilities which include: hand rails, eating and drinking utensils designed for those suffering from HD, and tools to help those people bathe and dress easier.
What Happens if You Test Positive?
As a parent, it is important to make sure you get tested for dangerous diseases. If you get tested positive for Huntington Disease, not only are you going ot face the disease yourself, but your offspring is very at risk at developing HD as well. Because it can be performed prenatally, the test allows a woman to choose to abort a fetus carrying the gene — to date, that is the only way of preventing the disease. HD is found in every country of the world. It is a familial disease, passed from parent to child through a mutation or misspelling in the normal gene (MedicineNet).
Since having a child while being a carrier for the disease is such a high risk, there are many alternatives to having children naturally:
- Adoption
- Vitro fertilization with donor sperm and eggs
- Preimplantation genetic diagnosis (this is a process in which eggs are removed from the ovaries and fertilized with sperm in a labratory setting. The embryos are then tested for Huntington Disease and those that test negative are implanted into the mother's uterus) (Mayo).
Coping and Support
Support services for people with Huntington's disease and families include the following:
- Nonprofit agencies, such as the Huntington's Disease Society of America, provide caregiver education, referrals to outside services, and support groups for people with the disease and caregivers.
- Local and state health or social service agencies may provide daytime care for people with the disease, meal assistance programs or respite for caregivers. (Mayo)
Matters that may need to be addressed for families include:
- Care facilities. Care in the advanced stages of the disease will likely require in-home nursing care or care in an assisted living facility or nursing home.
- Hospice care. Hospice services provide care at the end of life that helps a person approach death with as little discomfort as possible. This care also provides support and education to the family to help them understand the process of dying.
- Living wills. Living wills are legal documents that enable a person to spell out care preferences when he or she isn't able to make decisions.
(Mayo)
Battling Huntington's Disease
Charles Sabine, a television journalist that worked for NBC for 26 years, was diagnosed with Huntington's Disease in 2005 at age 45. "Huntington’s has been described as the most disastrous disease known to man because of its peculiarly cruel characteristics. It progressively strips a person of control of his muscles, reason and emotions—though not necessarily in that order" (More Intelligent Life). Sabine’s elder brother, John, who already had four children, rushed to have the test and found that he too had the mutation. Their father died in 2001 and John now has physical symptoms, though cognitively and emotionally he remains relatively intact. Charles is now working hard to provide support for families and those who suffer from HD. He now travels the world and seeks scientists to help find a cure. “I think they’re too late for me,” he said of this and other treatments in development. “But the next generation has every reason to believe that they do not have to fear this disease as much as I do.” (Washington Post)
Works Cited
"BATTLING HUNTINGTON'S DISEASE." More Intelligent Life. Web. 09 Feb. 2015. <http://moreintelligentlife.com/content/laura-spinney/health-different-battle>.
"Daniel My Brother (Huntington's Disease)." YouTube. YouTube. Web. 09 Feb. 2015. <https://www.youtube.com/watch?v=JzAPh2v-SCQ>.
"Former TV Reporter Campaigns to Bring Huntington's Disease out of the Shadows." Washington Post. The Washington Post. Web. 07 Feb. 2015. <http://www.washingtonpost.com/national/health-science/former-tv-reporter-campaigns-to-bring-huntingtons-disease-out-of-the-shadows/2013/07/29/136d1a9e-bd70-11e2-9b09-1638acc3942e_story.html>.
"Huntington Disease." Genetics Home Reference. Web. 03 Feb. 2015. <http://ghr.nlm.nih.gov/condition/huntington-disease>.
"Huntington Disease: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine. Web. 08 Feb. 2015. <http://www.nlm.nih.gov/medlineplus/ency/article/000770.htm>.
"Huntington's Disease Symptoms, Causes, Treatment - What Causes Huntington's Disease? - MedicineNet." MedicineNet. Web. 06 Feb. 2015. <http://www.medicinenet.com/huntington_disease/page2.htm>.
"Huntington's Disease." Definition. Web. 03 Feb. 2015. <http://www.mayoclinic.org/diseases-conditions/huntingtons-disease/basics/definition/con-20030685>.
" ." Huntington's Disease Society of America. Web. 08 Feb. 2015. <http://www.hdsa.org/>.
