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AOA2 Donation

To donate to a specific fund toward the research for our type of Ataxia, AOA2, please visit the following link.

 


 Learn Our Story

About Us

Ataxia with Oculomotor Apraxia Type 2 (AOA2) is a rare neurological disease. For families, such as ours, who are affected by it, life is never the same. Unfortunately, AOA2 tends to begin in late adolescence, leaving patients unable to drive, walk, write, and handle their own basic daily needs. Common symptoms of AOA2 include balance problems, tremors, loss of motor skills, double vision, and muscle weakness. This site is dedicated to sharing our story and raise awareness about AOA2. Although we must use a wheelchair and AOA2 has robbed us of the ability to live independently, we remain optimistic about the future, thanks to UCLA’s Brent Fogel, M.D., Ph.D. who is determined to find a cure for AOA2. He is one of a handful of investigators specifically researching AOA2.

For more information about our story please Click Here to see an article from The Orange County Register.

 


There are many types

What is Ataxia?

The word “ataxia”, comes from the Greek word, “a taxis” meaning “without order or incoordination”. The word ataxia means without coordination. People with ataxia have problems with coordination because parts of the nervous system that control movement and balance are affected. Ataxia may affect the fingers, hands, arms, legs, body, speech, and eye movements. The word ataxia is often used to describe a symptom of incoordination which can be associated with infections, injuries, other diseases, or degenerative changes in the central nervous system. Ataxia is also used to denote a group of specific degenerative diseases of the nervous system called the hereditary and sporadic ataxias which are the National Ataxia Foundation’s primary emphases.

Diagnosis is based on a person’s medical history, family history, and a complete neurological evaluation including an MRI scan of the brain. Various blood tests may be performed to rule out other possible disorders which may present similar symptoms. Genetic blood tests are now available for some types of hereditary ataxia to confirm a diagnosis or as a predictive test to determine if someone has inherited an ataxia gene known to affect other family members.

The hereditary ataxias are genetic, which means they are caused by a defect in a certain gene that is present from the start of a person’s life. All of us have genes that have little mistakes or variations but most of these do not cause disease, they are called mutations. The hereditary ataxias can be divided into those that are dominantly inherited and those that are recessively inherited.

Autosomal recessive inherited diseases also affect males and females equally but it takes a “double dose” of the ataxia gene to result in disease symptoms. Both parents must be carriers of the disease gene and each must pass on the ataxia gene to their child for the double dose that is needed to produce symptoms of the recessive disease. Each child of parents who are carriers of a recessive disease has a 25% chance of inheriting two ataxia genes so will develop the disease, a 50% chance of inheriting just one of the ataxia genes and, therefore, be a carrier and a 25% chance of inheriting no ataxia gene and be completely free of ataxia. Because a single recessive ataxia gene does not cause symptoms, it can be passed on in a family for generations without being recognized. Therefore, there is often no “family history” of ataxia if the disease is inherited as a recessive gene.

Above information about ataxia is courtesy of the National Ataxia Foundation.

 


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Featured Videos

 

Angels Weekly: The DeMint family meets Mike Trout

Featured on Angels Weekly, watch as the DeMint Family and the Brothers on a Quest get a very special visit while visiting the Angels’ locker room. This is an experience the DeMint family will never forget.

 

FOX Sports West, Kings Weekly: Random Acts of Kindness

To view a video about our story featured on Kings Weekly’s Random Act of Kindness as shown on FOX Sports West, please click below to watch. The video features our parents, Cindy and Jerry DeMint, and the Los Angles Kings. We can’t thank FOX Sports West and the Los Angels Kings enough for this incredible experience.


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Classic Car Gaming is a proud supporter of Ataxia research. Do you like classic cars? Care for a little fun? Classic Car Gaming is geared for excitement as an interactive game in which you can place a variety of fantasy bets on the outcomes of actual sales from classic car auctions around the world.

Another proud supporter of Ataxia research is 2016 NASCAR Track/California State Rookie-of-the-Year, and up-and-coming NASCAR driver, Dylan Garner.