Imagine a world where you could not swallow, you suffered from depression, twitching, had mild uncontrollable movement, short-term memory lapses, difficulty in concentration and mood swings. This is the world for people with Huntington's Disease.
Huntington's Disease is a neurological disease when brain cells loose function resulting in impaired motor functions and mental capability. Huntington's Disease (HD) is named after Dr. George Huntington who wrote about it in a paper in 1872. “HD usually appears in an individuals between 30 and 50 years of age and progresses over a 10-25 year period” There have been children as young as two years old diagnosed with the disease. In these young victims the disease progresses quickly and the symptoms are worse. Children with the disease usually only live 10 years and the adult life span is approximately 17 years. “There are approximately 30,000 Americans with Huntington's disease and over 150,000 more are at risk.”
Huntington's disease is a dominant disease. If one parent has the disease the offspring would have a 50/50 chance of inheriting the disease. If you inherit the gene you will get the disease. If you don't have the gene you will not get the disease and you cannot pass it on to your children. Huntington's disease is not contagious. “HD affects both sexes and all races and ethnic groups around the world.”
Currently there is no cure for Huntington's Disease, but in 1993 researchers were able to identify the gene that cause HD. Today there are medications to help some of the symptoms but “ultimately the weakened individuals succumbs to pneumonia, heart failure and other complications”
Researchers have found that lab mice have a gene similar to the gene found in humans with HD. This is an exciting breakthrough because now we can test on the mice to find a cure for the disease.
There is a blood test to determine if the gene is present in an individual, but does not indicate at what age one will get the disease. They now can also test pregnant woman to see if the baby they are carrying has the gene. If you are going to be tested there are many things you should take into consideration:
If you are married, does your husband or wife want you to be tested?
If you were to test positive would you have children? Would you use a donor to have a baby?
How would the results change your life? What would you do different? Should you start to enjoy life more?
Do you have siblings? What are there thoughts? Are they scared for their brothers or sisters? Will your decision to have the test impact them?
If you have children and you test positive, should you have your children tested?
For example identical twins would have to make the decision together because they share the same DNA so If one twin had the gene, then both would have the gene. This is not the case in fraternal twins.
There is not a lot written about Huntington's Disease. I believe it is because it is so rare and there needs to be more money raised for research so that the next generation will have a cure.
John Hopkins Medicine: Department of Psychiatry Division Of Neurobiology
Baltimore Huntington's Disease Center
Huntington's Disease Society of America:
Genetic Testing for Huntington's Disease
Fast Facts About HD
A Guide for Families Genetic Testing for Huntington's Disease: Huntington's Disease Society of America
Gene Therapy: Treating Disease by Repairing Genes by: Joseph Panno Ph.D.