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Mark Smrtnik, his sister Trisha Smrtnik Peaslee and their family have created the Hope for Huntington's Fund, which has raised over $1,000,000.00 to help find a cure for Huntington's Disease.

Huntington's Disease

This page presents only a brief overview of Huntington's Disease. Please visit the Huntington's Disease Society of America (HDSA) or our Links page for more detailed information.

What is Huntington's Disease?

Huntington's Disease is an inherited disorder which causes degeneration of neuropsychiatric functions. Affecting both body and mind, HD usually strikes persons between the ages of 35 and 50, although onset may occur anywhere between early childhood to old age. The disease causes emotional, cognitive, and motor disturbances.

There are 30,000 people in the U. S. who have Huntington's Disease. About one person in every 10,000 has the disease, and at least 150,000 have a 50% chance of developing it someday. Thousands more are "at risk" and live with the knowledge that they, too, might develop HD.

What Causes HD?

HD is caused by the degeneration of nerve cells (neurons) in certain areas of the brain. Specifically, HD affects cells of the basal ganglia, structures of the brain that affect coordination of movement. The brain's outer surface (cortex), which controls thought, memory and perception, is also affected. For a more detailed explanation of how HD affects nerurons, click HERE.

How is HD Inherited?

Each of us has about 30,000 genes which determine our individual characteristics or traits. HD is produced by a single abnormal gene which is passed on from parent to child. Each child of an HD parent has a 50% chance of inheriting the mutated gene. If the gene is inherited, the person affected will sooner or later develop the disease.

What are the Effects of HD?

The symptoms of HD vary greatly from person to person. Early symptoms may include:

  • apathy
  • irritability
  • depression
  • anger

Eventually, HD may affect the individual's cognitive functions, such as judgment and memory. The person may have difficulty grasping new concepts, remembering facts, making decisions, or even answering questions. As the disease progresses, other symptoms may appear:

  • lack of coordination
  • inability to concentrate
  • slurred speech
  • difficulty swallowing

The disease generally progresses slowly and may last anywhere from 10 to 30 years.

Diagnosis and Genetic Testing

The discovery of the HD gene in 1993 resulted in the development of a direct genetic gest that can confirm the presence of the gene. Basically, the test analyzes DNA in a blood sample for the mutated gene. Tests can be performed to confirm or deny the diagnosis of HD on persons exhibiting symptoms. They can also be used to confirm or deny the presence of the gene in asymptomatic individuals who are at risk for developing the disease.

Treatment and Hope for a Cure

At present there is no effective treatment for Huntington's Disease. Antipsychotic drugs can be prescribed to keep clinical symptoms under control, but there is no treatment that can stop or reverse the course of the disease.

Since the discovery of the HD gene, research efforts have increased significantly. Neurologists, psychologists and other scientists are conducting studies to help them find out exactly how the HD gene causes disease in the body. Ongoing research provides real hope for Huntington's, because it may soon lead to new therapeutics and someday to a cure.

How You Can Help

Research is the key to developing better treatments and to finding a cure for HD. Our dream, to make this the last generation with Huntington's Disease, is now a distinct possibility. However, we need your commitment and support to sustain the research efforts that will help us eradicate HD from existence. The Huntington's Disease Society of America is dedicated to that purpose, and they have set the ambitious goal of $25 million by 2006. Your donation can help us reach that goal. Help us achieve our dream of finding a cure so that all generations beyond this one will live in a future free of Huntington's Disease.

To make a donation to be used towards research, please call the HDSA at 800-345-HDSA or visit the HDSA site to learn the different ways you can help. You can make a gift via their secure server or you can print the gift form and mail it to them. 87% of each unrestricted gift to HDSA will be used to support HDSA's research, education and family services programs. Donors also have the right to restrict their gifts for a specific program or programmatic area. When this is done, 100% of the restricted donation is used for that program. All cash contributions are deductible to the fullest extent of the law.

There are many ways you can contribute toward a cure for Huntington's. Employers will often match your tax-deductible contribution. Other options are memorial gifts in honor of friends/family members or the establishment of a family fund to support the project or program of your choice. You can also help to ensure HDSA's financial security by remembering the Society in your estate plans.

If you would like more information about the different ways to give to the HDSA, please contact HDSA's National Executive Director/CEO Louise Vetter: vvetter@hdsa.org

Huntington's Disease Society of America
158 West 29th Street, 7th Floor
New York, New York 10001-5300
(212) 242-1968 or (800) 345-HDSA

The Hope for Huntington's fund, established by the Smrtnik/Fiore family, is dedicated to the goal of finding a cure for Huntington's. If you would like to make a gift in their name, please state so at the time you arrange for your donation. Your commitment and support is appreciated by all of us.

These pages were created and are maintained by Alice Manfredini 2011. All rights reserved. Original images and/or text on this site may not be reproduced without written permission from the copyright owners and/or the webmaster.

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