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News
FA Clinic in Brisbane is now open. This is a gathering of specialists in the one place that are all well informed of FA. For more information on the clinic and how to book in click here.
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One of our major sponsors is Compass Expeditions.
So if you are looking for a holiday with a difference then follow the link.
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Date: 21 - 22 May -
Photography Exhibition: Wesley Misson, Ann St, Brisbane Click on the image to read how sucessful this was.
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Documentary release:
Our documentary was released February 2010. This has been created to raise awareness. Click on the image to read more about it. 
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Go the TAN
February I pushed the wheelchair the 3.8kms around 'the TAN' - the botanic gardens in Melbourne to raise funds for FA research..
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Mick's Book
Mick is a special mate and was my driver for an overland I did through South America. He and 3 of his mates rode motorbikes from London to Vladivostok and raised alot of money. This is the story of that ride. Click on the picture for more info. |
Frequently Asked Questions - 2
TREATMENT
15. Should FAers be on CO 10 and vitamin E to slow down deterioration caused by FA?
No published evidence it works, however there is published evidence that it is somewhat useful in treatment of some symptons e.g cardiomyopathy. .
16. Will chelator stop the deterioration caused by FA?
Unknown at present
17. Why is Idebenone not allowed into Australia and made available on public health?
It is an experimental chemical which has not passed through all necessary checks to be considered a treatment. People can buy it over the internet but the government would not be doing its job if it allowed unrestricted access.
18. Is there research available regarding exercise and slowing down the deterioration caused by FA, at a cellular, mitochondrial level?
No evidence exercise slows down the disease process but most patients with FA will say it does. The stronger you are the less fatigued you become. I go to the gym twice a week and I know ir has helped me to stay walking for longer.
19. Bearing in mind that it is better for people with FA to be active than inactive, what preparticipation screening would he recommend for people about make a graduated beginning in a regular moderate physical activity programme?
Worth seeing a heart specialist/cardiologist as well as their own GP for moderate exercise
20. My question comes because cardiovascular complications occur in people with FA but you don't really want to require that everyone with FA receive a clearance from a cardiologist prior to commencement (this would be a significant disincentive to becoming active). On the other hand, this may be necessary?
I'd suggest better to be assessed than not
21. Would these medical clearance requirements be any different for children (say in schools participating in PE)
Children with FA are likely to be limited in their ability to participate in normal school sport activities
22. What communication aids are used by people with FA?
Best to ask speech therapy unit
GENETIC ASPECTS
23. How many people in Qld have FA?
Not known. In Sweden 1 in 10,000
24. Will the FA gene stay constant, ie. 1 in 50,000 or will it increase or decrease?
Stay constant
25. Can my children contract FA from someone with FA?
No, not like an infection.
26. How, where and why did the fa gene begin?
No one knows, if you mean where did the alteration start
27. Are the children of people with FA carriers – and are their grandchildren carriers?
All children of someone with FA are carriers, half the grandchildren will be carriers
28. If my brother and sister are carriers but do not have FA, should their children be tested when they wish to have a child?
Best discussed with their GP and if necessary a geneticist/genetic counsellor
29. If a parent has fa should their children be tested when they want children to determine risk of passing on the gene?
Refer to question 28
30. If every cell in the body is affected, why are there only cerebellum, cardiac and diabetes complications?
The gene product is more important in some cells than others (most genetic diseases are like this)
31. What is the function of Frataxin and is it in every cell? If not, is it known why only some systems are affected?
Frataxin appears to be involved in the import of iron into mitochondria, small organelles within the cell which are responsible for the cell's energy requirements. Iron is taken into mitochondria where it is complexed with some of the proteins involved in mitochondrial function. If frataxin is absent or abnormal, excess iron accumulates causing damage to the mitochondria, which can't then function properly. Some tissues use frataxin to regulate iron levels, but others apparently are not so dependent on frataxin activity (see also 30)
32. With the mapping of the human genome lead to the mutant gene being able to be “turned off”?
No, it's loss of function that is the problem. It would need replacement of normal copies
VARIABILITY
33. Why do people have more severe symptoms than others in the same family?
The gene alteration is not stable and may vary slightly between brother/sisters enough to make a difference
34. Why do symptoms show at different ages?
As above, relate to repeat length
35. There has been one report of very late onset FA with mild symptoms despite the person having nearly 1000 repeats. What might influence severity/age at onset in addition to the number of repeats?
Anyone's guess
Go back to Questions 1
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