On Sunday May 17 @ Independence Elementary (Liberty twp, Ohio) there will be a 5k walk/run to raise money to help find a cure for FA. To date with this event they have raised over $150,000! 100% of that money goes to research in finding a cure.
If you would like to participate or even just make a tax deductible donation, you can find all of the details here
Thanks for your support!
Thursday, March 12, 2009
Thursday, November 6, 2008
Tuesday, November 4, 2008
What is FA (Friedreich's Ataxia) ?
(info taken from the curefa website)
Friedreich’s ataxia (FA) is a debilitating, life-shortening, degenerative neuro-muscular disorder. About one in 50,000 people in the United States have Friedreich's ataxia. Onset of symptoms can vary from childhood to adulthood. Childhood onset of FA is usually between the ages of 5 and 15 and tends to be associated with a more rapid progression. Late onset FA (LOFA) can occur anytime during adulthood. FARA is supporting research that will improve the quality and length of life for those diagnosed with Friedreich's ataxia and will lead to treatments that eliminate its symptoms.
Signs and Symptoms
loss of coordination (ataxia) in the arms and legs
fatigue - energy deprivation and muscle loss
vision impairment, hearing loss, and slurred speech
aggressive scoliosis (curvature of the spine)
diabetes mellitus (insulin - dependent, in most cases)
a serious heart condition (enlarged heart - hypertrophic cardiomyopathy)
These symptoms are not present in all individuals with FA, for example diabetes occurs in about 10-20% of individuals with FA. The mental capabilities of people with Friedreich's ataxia remain completely intact. The progressive loss of coordination and muscle strength leads to motor incapacitation and the full-time use of a wheelchair. Most young people diagnosed with FA require mobility aids such as a cane, walker, or wheelchair by their teens or early 20s.
Cause
FA is a genetic disorder. FA patients have gene mutations that limit the production of a protein called frataxin. Frataxin is known to be an important protein that functions in the mitochondria (the energy producing factories) of the cell. Frataxin helps to move iron and is involved with the formation of iron-sulfur clusters, which are necessary components in the function of the mitochondria and thus energy production. We also know that specific nerve cells (neurons) degenerate in people with FA, and this is directly manifested in the symptoms of the disease.
Treatments
There are currently no treatments for FA. Patients are monitored for symptom management. FARA is funding research to find a cure. We believe the treatment era for FA is now! As a result of great advancements to understand the cause of the disease, new treatments are now emerging. These treatments address the causes of FA such as gene mutation, frataxin production, iron sulfur clusters, and mitochondrial function. A full listing of treatment initiatives can be viewed in FARA’s treatment pipeline. Several of these treatments will be in clinical trials which require patient participation.
Additional details on FA symptoms, causes and treatments can be found on the Patient and Family Resources section of the website. Friedreich’s ataxia (FA) is a debilitating, life-shortening, degenerative neuro-muscular disorder. About one in 50,000 people in the United States have Friedreich's ataxia. Onset of symptoms can vary from childhood to adulthood. Childhood onset of FA is usually between the ages of 5 and 15 and tends to be associated with a more rapid progression. Late onset FA (LOFA) can occur anytime during adulthood. FARA is supporting research that will improve the quality and length of life for those diagnosed with Friedreich's ataxia and will lead to treatments that eliminate its symptoms.
Additional details on FA symptoms, causes and treatments can be found on the Patient and Family Resources section of the website. http://www.curefa.org/
We have a 14 yr old daughter who is affected with this disorder. She was diagnosed 4 yrs ago and has progressed to the point of not being able to walk unassisted. It was a long troublesome 6 months of tests upon tests to figure out what was wrong with our little girl. When we finally got a diagnosis, we were hoping for some relief, but realized rather quickly that this was just the beginning of a very long road. She has never been able to run, ride a bike, roller skate or do many other simple things that others take for granted.
She is a blessing in our life and we are so very thankful that our Father in Heaven entrusted us with her special spirit. She is a very happy young woman. She doesn't usually let her disorder bring her down. She is an inspiration to all who meet her.
So, if you would like to help us in our fight to find a cure. Please visit the website listed above and make a donation. (all of which are tax deductible-info on website)
Thank you for your time.
Friedreich’s ataxia (FA) is a debilitating, life-shortening, degenerative neuro-muscular disorder. About one in 50,000 people in the United States have Friedreich's ataxia. Onset of symptoms can vary from childhood to adulthood. Childhood onset of FA is usually between the ages of 5 and 15 and tends to be associated with a more rapid progression. Late onset FA (LOFA) can occur anytime during adulthood. FARA is supporting research that will improve the quality and length of life for those diagnosed with Friedreich's ataxia and will lead to treatments that eliminate its symptoms.
Signs and Symptoms
loss of coordination (ataxia) in the arms and legs
fatigue - energy deprivation and muscle loss
vision impairment, hearing loss, and slurred speech
aggressive scoliosis (curvature of the spine)
diabetes mellitus (insulin - dependent, in most cases)
a serious heart condition (enlarged heart - hypertrophic cardiomyopathy)
These symptoms are not present in all individuals with FA, for example diabetes occurs in about 10-20% of individuals with FA. The mental capabilities of people with Friedreich's ataxia remain completely intact. The progressive loss of coordination and muscle strength leads to motor incapacitation and the full-time use of a wheelchair. Most young people diagnosed with FA require mobility aids such as a cane, walker, or wheelchair by their teens or early 20s.
Cause
FA is a genetic disorder. FA patients have gene mutations that limit the production of a protein called frataxin. Frataxin is known to be an important protein that functions in the mitochondria (the energy producing factories) of the cell. Frataxin helps to move iron and is involved with the formation of iron-sulfur clusters, which are necessary components in the function of the mitochondria and thus energy production. We also know that specific nerve cells (neurons) degenerate in people with FA, and this is directly manifested in the symptoms of the disease.
Treatments
There are currently no treatments for FA. Patients are monitored for symptom management. FARA is funding research to find a cure. We believe the treatment era for FA is now! As a result of great advancements to understand the cause of the disease, new treatments are now emerging. These treatments address the causes of FA such as gene mutation, frataxin production, iron sulfur clusters, and mitochondrial function. A full listing of treatment initiatives can be viewed in FARA’s treatment pipeline. Several of these treatments will be in clinical trials which require patient participation.
Additional details on FA symptoms, causes and treatments can be found on the Patient and Family Resources section of the website. Friedreich’s ataxia (FA) is a debilitating, life-shortening, degenerative neuro-muscular disorder. About one in 50,000 people in the United States have Friedreich's ataxia. Onset of symptoms can vary from childhood to adulthood. Childhood onset of FA is usually between the ages of 5 and 15 and tends to be associated with a more rapid progression. Late onset FA (LOFA) can occur anytime during adulthood. FARA is supporting research that will improve the quality and length of life for those diagnosed with Friedreich's ataxia and will lead to treatments that eliminate its symptoms.
Additional details on FA symptoms, causes and treatments can be found on the Patient and Family Resources section of the website. http://www.curefa.org/
We have a 14 yr old daughter who is affected with this disorder. She was diagnosed 4 yrs ago and has progressed to the point of not being able to walk unassisted. It was a long troublesome 6 months of tests upon tests to figure out what was wrong with our little girl. When we finally got a diagnosis, we were hoping for some relief, but realized rather quickly that this was just the beginning of a very long road. She has never been able to run, ride a bike, roller skate or do many other simple things that others take for granted.
She is a blessing in our life and we are so very thankful that our Father in Heaven entrusted us with her special spirit. She is a very happy young woman. She doesn't usually let her disorder bring her down. She is an inspiration to all who meet her.
So, if you would like to help us in our fight to find a cure. Please visit the website listed above and make a donation. (all of which are tax deductible-info on website)
Thank you for your time.
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