Tag Archives: Disease

Huntington’s Disease

Huntington’s disease (HD) is an inherited brain disorder that results in the progressive loss of both mental faculties and physical control. Symptoms usually appear between the ages of 30 to 50, and worsen over a 10 to 25 year period. Ultimately, the weakened individual succumbs to pneumonia, heart failure or other complications.

Everyone has the HD gene but it is those individuals that inherit the expansion of the gene who will develop HD and perhaps pass it onto each of their children.

Presently, there is no cure. Although medications can relieve some symptoms, research has yet to find a means of slowing the deadly progression of HD.

Current estimates are that 1 in every 10,000 Americans has HD and more than 250,000 others are at-risk of having inherited it from a parent. Once thought a rare disease, HD is now considered one of the more common hereditary diseases.

Every person who inherits the expanded HD gene will eventually develop the disease.
Over time, HD affects the individual’s ability to reason, walk and speak

Symptoms Include:

Personality changes, mood swings and depression
Forgetfulness and impaired judgment
Unsteady gait and involuntary movements
Slurred speech and difficulty in swallowing

The Scope of HD
Approximately 30,000 Americans have HD, but the devastating effects of the disease touch many more. Within a family, multiple generations may have inherited the disease. Those at-risk may experience tremendous stress from the uncertainty and sense of responsibility. In the community, lack of knowledge about HD may keep friends and neighbors from offering social and emotional support to the family, fostering unnecessary isolation.

The Huntington’s Disease Society of America (HDSA) has a nationwide network that provides support and referrals for individuals with HD and their families.

Genetic Testing for HD
Individuals can be tested for the gene that causes HD. The test may be used to confirm a diagnosis of HD, but may also be used as a predictive test before symptoms arise. Some individuals at-risk for HD feel that it is important to know whether they carry the gene. Others ultimately choose not to be tested. While the actual procedure is simple, the decision to have the test is not. HDSA recommends that persons wishing to undergo presymptomatic testing for HD do so at one of our HDSA Centers of Excellence, or at a testing center with specific training in working with HD. A list of these testing centers is available from HDSA

HD affects both sexes and all races and ethnic groups around the world.
The Decision to test is highly personal and should never be rushed or forced.

Who is At-Risk?
Every child of a parent with HD has a 50/50 chance of inheriting the expanded gene that causes the disease. If the child has not inherited this expanded gene, he or she will never develop the disease and cannot pass it on to their children.

Genetic Information Nondiscrimination Act of 2008 (GINA)
The Genetic Information Nondiscrimination Act (GINA) protects people from discrimination by health insurers and employers on the basis of their DNA information. This federal law also enables individuals to take part in research studies without fear that their DNA information might be used against them by health insurers or in the workplace.

However, GINA protections do not extend to long term care, disability or life insurance policies. Anyone contemplating testing should first consider adding one or more of these types of policies before starting the testing process.

Advocacy
HDSA advocacy works to advance legislation and policy to improve the lives of HD families by raising awareness about HD in the U.S. Congress, by promoting legislation, policy and regulations that would help individuals in the HD community, by educating Federal agencies about HD, and by partnering and collaborating with national organizations that have common goals. Learn more at www.hdsa.org/advocacy.

Join us in the fight against HD
YOU can help HDSA in our efforts to end HD and provide resources for those who must face this disease daily. Both funds and volunteers are needed. Contact the HDSA National Office to find out how YOU can help.

HD does not skip generations; if one does not inherit the expanded gene, one cannot pass it on

An End To HD?
In 1993, researchers identified the gene that causes HD. Since then, research has moved quickly towards developing treatments and, ultimately, a cure. HDSA supports the goals of clinical and basic research at leading research facilities globally.

Clinical and observational trials are an important way you can help to sustain the momentum of HD research and move potential new therapies through the approval process. Visit the Research section of the HDSA website for more information and to find a trial in your area. There are opportunities for all HD family members – gene positive, at-risk, gene negative, and caregivers – to participate.

About HDSA
The Huntington’s Disease Society of America (HDSA) is the largest 501(C)(3) non-profit volunteer organization dedicated to improving the lives of everyone affected by Huntington’s disease. Founded in 1968 by Marjorie Guthrie, wife of folk legend Woody Guthrie who lost his battle with HD, the Society works tirelessly to provide family services, education, advocacy and research to provide help for today, hope for tomorrow to the more than 30,000 people diagnosed with HD and the 250,000 at-risk in the United States.

Where to find help
You are not alone in facing HD. HDSA has developed a nationwide network that includes Chapters and Affiliates, HDSA Centers of Excellence, Support Groups, and Social Workers that are ready to assist you with referrals and resources in your area. To learn more, please visit www.hdsa.org or call 888-HDSA-506.

Research worldwide is working to unlock the mystery of HD and find a cure

Parkinson’s Awareness

Leave a reply

Parkinson’s disease is a movement disorder that is chronic and progressive, meaning that symptoms continue and worsen over time.

As many as one million individuals in the US live with Parkinson’s disease. While approximately four percent of people with Parkinson’s are diagnosed before the age of 50, incidence increases with age.

Its major symptoms vary from person to person, but can include tremor, slowness of movements, limb stiffness, and difficulties with gait and balance. The cause of the disease is unknown, and although there is presently no cure, there are treatment options such as medication and surgery to manage the symptoms.

Tuberculosis (TB) Awareness

Leave a reply

Tuberculosis (TB) may seem like an obscure disease; perhaps you were once tested for it during a pre-employment or school physical. But for people in some countries, tuberculosis infection is a real threat, the symptoms are well known, and the death toll is still too high. With the emergence of resistant strains of TB, currently used medications are becoming less effective, and for some strains, treatment is extremely difficult.

And TB is more common than you may think. About one-third of the world’s population is currently infected with TB, with one new infection occurring every second. Not all infected people are sick with active TB; in fact, 90 percent have “walled off” the bacteria within their lungs and are not ill. But the other 10 percent will develop active, contagious tuberculosis each year, and each person who develops active TB will likely infect at least 10 to 15 other people before s/he is treated.

Tuberculosis Is All About Human Contact
Eradicating the tuberculosis infection in a particular country isn’t a matter of simply providing a clean water supply or non-contaminated food — it’s about setting up an organized system for recognizing the infection, treating it, and reducing transmission from person to person. Tuberculosis is spread by the tiny droplets that become airborne when a person with active TB coughs.

Preventing Tuberculosis Infection
Limiting transmission sounds simple in principle, but it is an elusive goal for many countries. To stop the spread of tuberculosis, people must be treated as soon as they contract it.

The United States has an extremely low incidence of tuberculosis — around 12,000 to 13,000 new diagnoses per year. That’s because the United States has the human resources, an existing healthcare system, and funds needed for controlling the disease. Many countries have none of these things. And those countries, including many in Asia and Africa, are still plagued with high numbers of tuberculosis cases. Effective medications are needed to control tuberculosis and unfortunately some parts of the world either can’t afford or can’t administer them.

January Is Glaucoma Awareness Month

Leave a reply

Glaucoma is a very misunderstood disease. Often, people don’t realize the severity or who is affected.

Key Facts About Glaucoma

Glaucoma is a leading cause of blindness
Glaucoma can cause blindness if it is left untreated. And unfortunately approximately 10% of people with glaucoma who receive proper treatment still experience loss of vision.
There is no cure (yet) for glaucoma
Glaucoma is not curable, and vision lost cannot be regained. With medication and/or surgery, it is possible to halt further loss of vision. Since open-angle glaucoma is a chronic condition, it must be monitored for life. Diagnosis is the first step to preserving your vision.
Everyone is at risk for glaucoma
Everyone is at risk for glaucoma from babies to senior citizens. Older people are at a higher risk for glaucoma but babies can be born with glaucoma (approximately 1 out of every 10,000 babies born in the United States). Young adults can get glaucoma, too. African Americans in particular are susceptible at a younger age.
There may be no symptoms to warn you
With open-angle glaucoma, the most common form, there are virtually no symptoms. Usually, no pain is associated with increased eye pressure. Vision loss begins with peripheral or side vision. You may compensate for this unconsciously by turning your head to the side, and may not notice anything until significant vision is lost. The best way to protect your sight from glaucoma is to get tested. If you have glaucoma, treatment can begin immediately.

Some Statistics About Glaucoma

It is estimated that over 2.2 million Americans have glaucoma but only half of those know they have it.
In the U.S., more than 120,000 are blind from glaucoma, accounting for 9% to 12% of all cases of blindness.
Glaucoma is the second leading cause of blindness in the world, according to the World Health Organization.
After cataracts, glaucoma is the leading cause of blindness among African Americans.
Blindness from glaucoma is 6 to 8 times more common in African Americans than Caucasians.
African Americans are 15 times more likely to be visually impaired from glaucoma than Caucasians.
The most common form, open-angle glaucoma, accounts for 19% of all blindness among African Americans compared to 6% in Caucasians.
Other high-risk groups include: people over 60, family members of those already diagnosed, diabetics, and people who are severely nearsighted.
Estimates put the total number of suspected cases of glaucoma at over 60 million worldwide.

COPD: Emphysema Awareness

Leave a reply

Chronic obstructive pulmonary disease (COPD) is one of the leading cause of death in the U.S. and affects more than 12 million Americans. COPD – which includes emphysema and chronic bronchitis – is a term used to describe the obstruction of airflow.

COPD cannot be cured, but it can be treated. Early detection and diagnosis is the key to successful management of this chronic disease.

Emphysema is a long-term, progressive disease of the lungs that primarily causes shortness of breath due to over-inflation of the alveoli (air sacs in the lung). In people with emphysema, the lung tissue involved in exchange of gases (oxygen and carbon dioxide) is impaired or destroyed. Emphysema is included in a group of diseases called chronic obstructive pulmonary disease or COPD (pulmonary refers to the lungs). Emphysema is called an obstructive lung disease because airflow on exhalation is slowed or stopped because over-inflated alveoli do not exchange gases when a person breaths due to little or no movement of gases out of the alveoli.

Emphysema changes the anatomy of the lung in several important ways. This is due to in part to the destruction of lung tissue around smaller airways. This tissue normally holds these small airways, called bronchioles, open, allowing air to leave the lungs on exhalation. When this tissue is damaged, these airways collapse, making it difficult for the lungs to empty and the air (gases) becomes trapped in the alveoli.

Normal lung tissue looks like a new sponge. Emphysematous lung looks like an old used sponge, with large holes and a dramatic loss of “springy-ness” or elasticity. When the lung is stretched during inflation (inhalation), the nature of the stretched tissue wants to relax to its resting state. In emphysema, this elastic function is impaired, resulting in air trapping in the lungs. Emphysema destroys this spongy tissue of the lung and also severely affects the small blood vessels (capillaries of the lung) and airways that run throughout the lung. Thus, not only is airflow affected but so is blood flow. This has dramatic impact on the ability for the lung not only to empty its air sacs called alveoli (pleural for alveolus) but also for blood to flow through the lungs to receive oxygen.