Freedom! Accessiblity and Experience
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Meet Alexis :-) She is a very bright 15 year old young lady who LOVES video games. She is in 9th grade (homebound schooling), and says her favorite subject is lunch :-P
Alexis would LOVE to take a trip to Canada one day and visit Niagara Falls.
Alexis was diagnosed with a severe form of Friedreich's Ataxia (FA), a neurodegenerative disease, when she was only 9 years old. While it does not affect her cognitively, it does affect her strength and coordination, making everyday activities difficulty for Alexis, needing assistance for things like dressing and grooming.
Alexis is in need of house modifications and medical equipment and care to make life just a bit easier for her and her family. House modifications include making her home handicap accessible so she can have more independence (getting a drink out of the fridge, being able to maneuver around in her bedroom with her wheelchair, being able to go out in her backyard, remodeled pool for handicap access and therapeutic benefits, communication system thru the home so Alexis can call for assistance wherever she is...). Alexis needs a caregiver to help her out sometimes. Alexis also is in need of a custom wheelchair and a wheelchair accessible vehicle.
To learn more about FA, please visit: www.curefa.org
Here is some information taken directly from NIH website: http://www.ninds.nih.gov/disorders/friedreichs_ataxia/detail_friedreichs_ataxia.htm
What is Friedreich's ataxia? <topic_body style="color: rgb(0, 0, 0); font-family: Arial, Helvetica, sans-serif; font-size: 13px; line-height: normal; background-color: rgb(255, 255, 255);">Friedreich's ataxia (also called FA or FRDA) is a rare inherited disease that causes nervous system damage and movement problems. It usually begins in childhood and leads to impaired muscle coordination (ataxia) that worsens over time. The disorder is named after Nicholaus Friedreich, a German doctor who first described the condition in the 1860s.
In Friedreich's ataxia the spinal cord and peripheral nerves degenerate, becoming thinner. The cerebellum, part of the brain that coordinates balance and movement, also degenerates to a lesser extent. This damage results in awkward, unsteady movements and impaired sensory functions. The disorder also causes problems in the heart and spine, and some people with the condition develop diabetes. The disorder does not affect thinking and reasoning abilities (cognitive functions).
Friedreich's ataxia is caused by a defect (mutation) in a gene labeled FXN. The disorder is recessive, meaning it occurs only in someone who inherits two defective copies of the gene, one from each parent. Although rare, Friedreich's ataxia is the most common form of hereditary ataxia, affecting about 1 in every 50,000 people in the United States. Both male and female children can inherit the disorder.
What are the signs and symptoms? <topic_body style="color: rgb(0, 0, 0); font-family: Arial, Helvetica, sans-serif; font-size: 13px; line-height: normal; background-color: rgb(255, 255, 255);">Symptoms typically begin between the ages of 5 and 15 years, although they sometimes appear in adulthood and on rare occasions as late as age 75. The first symptom to appear is usually gait ataxia, or difficulty walking. The ataxia gradually worsens and slowly spreads to the arms and the trunk. There is often loss of sensation in the extremities, which may spread to other parts of the body. Other features include loss of tendon reflexes, especially in the knees and ankles. Most people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which often requires surgical intervention for treatment.
Dysarthria (slowness and slurring of speech) develops and can get progressively worse. Many individuals with later stages of Friedreich's ataxia develop hearing and vision loss.
Other symptoms that may occur include chest pain, shortness of breath, and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany Friedreich's ataxia, such as hypertrophic cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and cardiac failure. Heart rhythm abnormalities such as tachycardia (fast heart rate) and heart block (impaired conduction of cardiac impulses within the heart) are also common.
About 20 percent of people with Friedreich's ataxia develop carbohydrate intolerance and 10 percent develop diabetes. Most individuals with Friedreich's ataxia tire very easily and find that they require more rest and take a longer time to recover from common illnesses such as colds and flu.
The rate of progression varies from person to person. Generally, within 10 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease individuals may become completely incapacitated.
Friedreich's ataxia can shorten life expectancy, and heart disease is the most common cause of death.
What is Friedreich's ataxia? <topic_body style="color: rgb(0, 0, 0); font-family: Arial, Helvetica, sans-serif; font-size: 13px; line-height: normal; background-color: rgb(255, 255, 255);">Friedreich's ataxia (also called FA or FRDA) is a rare inherited disease that causes nervous system damage and movement problems. It usually begins in childhood and leads to impaired muscle coordination (ataxia) that worsens over time. The disorder is named after Nicholaus Friedreich, a German doctor who first described the condition in the 1860s.
In Friedreich's ataxia the spinal cord and peripheral nerves degenerate, becoming thinner. The cerebellum, part of the brain that coordinates balance and movement, also degenerates to a lesser extent. This damage results in awkward, unsteady movements and impaired sensory functions. The disorder also causes problems in the heart and spine, and some people with the condition develop diabetes. The disorder does not affect thinking and reasoning abilities (cognitive functions).
Friedreich's ataxia is caused by a defect (mutation) in a gene labeled FXN. The disorder is recessive, meaning it occurs only in someone who inherits two defective copies of the gene, one from each parent. Although rare, Friedreich's ataxia is the most common form of hereditary ataxia, affecting about 1 in every 50,000 people in the United States. Both male and female children can inherit the disorder.
What are the signs and symptoms? <topic_body style="color: rgb(0, 0, 0); font-family: Arial, Helvetica, sans-serif; font-size: 13px; line-height: normal; background-color: rgb(255, 255, 255);">Symptoms typically begin between the ages of 5 and 15 years, although they sometimes appear in adulthood and on rare occasions as late as age 75. The first symptom to appear is usually gait ataxia, or difficulty walking. The ataxia gradually worsens and slowly spreads to the arms and the trunk. There is often loss of sensation in the extremities, which may spread to other parts of the body. Other features include loss of tendon reflexes, especially in the knees and ankles. Most people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which often requires surgical intervention for treatment.
Dysarthria (slowness and slurring of speech) develops and can get progressively worse. Many individuals with later stages of Friedreich's ataxia develop hearing and vision loss.
Other symptoms that may occur include chest pain, shortness of breath, and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany Friedreich's ataxia, such as hypertrophic cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and cardiac failure. Heart rhythm abnormalities such as tachycardia (fast heart rate) and heart block (impaired conduction of cardiac impulses within the heart) are also common.
About 20 percent of people with Friedreich's ataxia develop carbohydrate intolerance and 10 percent develop diabetes. Most individuals with Friedreich's ataxia tire very easily and find that they require more rest and take a longer time to recover from common illnesses such as colds and flu.
The rate of progression varies from person to person. Generally, within 10 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease individuals may become completely incapacitated.
Friedreich's ataxia can shorten life expectancy, and heart disease is the most common cause of death.
Organizer
Whitney Testa
Organizer
Tampa, FL
