Friedreich's Ataxia
What is Friedreich’s Ataxia?
Friedreich’s Ataxia (FA) is a debilitating, life shortening, degenerative neuro-muscular disorder.
Onset of symptoms can vary from childhood to adulthood and can include loss of coordination (ataxia) in the arms and legs; energy deprivation and muscle loss; vision impairment, hearing loss, and slurred speech; aggressive scoliosis (curvature of the spine); diabetes mellitus; and a serious heart condition.
While the mental capabilities of people with FA remain completely intact, the progressive loss of coordination and muscle strength in FA leads to motor incapacitation and the full-time use of a wheelchair. There is currently no treatment or cure for it.
Is there anything that will help?
Sam is taking a drug called Idebenone. Under the guidance of Sam’s medical team here in Ireland and the doctors at Philadelphia Children’s Hospital, Sam takes a daily dosage of Idebenone. It is currently being tested in European Phase III ‘Catena’ Trial and has conditional approval in Canada. Some doctors believe it assists in reducing the potential effects of FA on the heart and can thus reduce the impact of cardiomyopathy. We purchase it online at Kirkman Labs – the correct quantity to be taken, depends on a persons weight. To read more on Idebenone, visit here.
Sam is also taking 200 iu of Vitamin E each day – Vitamin E is a fat-soluble antioxidant, it is thought that vitamin E may prevent or delay diseases associated with free radicals.
Since July 2010 Sam has also started to take Sulforophane. It is a phytochemical that is believed to have antioxidant and anti-cancer properties.
Sam has also undertaken a programme of exercise since September 2009. Co-ordinated by his physiotherapist Eoin, Sam spends about 45 minutes every Monday and Wednesday doing Pilates. The sessions are one to one. Sam is working on strenghtening the left side of his body, which is weaker than the right. He is also working on core strength, posture, stretching and flexibility. Sam continues to improve and benefit from the Pilates classes.
Warning:
The content of this site does not represent a qualified medical opinion. You should always seek the advice of your doctor or neurologist for professional medical advice, diagnosis, research or treatment. We are not doctors.
I just have accessed your site.Our son was diganoised with FA in april 09. he is now 10 yrs old. As you know looking at every avenue, to get as much information as possible.Our prayers and good wish are sent to Sam and his family.
Good to hear from you Elaine, we are just a little ahead of you in terms of Sam’s diagnosis in November ‘08. We have travelled to the US for information and there is a lot of great work and research going on there. We hope that you we find the site a good source of information and support. Keep in touch with us! Caroline