spokesman for EB group Debra Australia
Interviewer: Welcome to the 60 Minutes chat room. ninemsn in association with 60 Minutes present a live interview with Michael Fitzpatrick, spokesman for EB group Debra Australia and the father of Connor who suffers from the rare disease EB (epidermolysis bullosa).
Interviewer: Michael, thank you for joining us tonight to talk about EB.
Michael Fitzpatrick: Worldwide is estimated around 500,000 people. In Australia around 1000 are affected. It varies in severity from mild to severe, the severe forms were shown tonight.
wine asks: Do doctors know what gene causes EB?
Michael Fitzpatrick: There is a range of genes that can be affected. The affected genes determine the type and severity of the condition. Sometimes the genes can be determined through genetic testing, sometimes they cannot.
Nick asks: adidas philippines branches Do you know if there is a test others can do to see if they have the same gene?
Michael Fitzpatrick: There is no general testing done for EB, it is specific to each person and usually the parents have to be tested to determine which genes are affected.
Fizzy asks: Do all children of carriers “inherit” this disease, or can it affect only one of say two siblings, with the unaffected one then being a carrier?
Michael Fitzpatrick: No, not all children inherit the disease. In our case with Connor, Bree and I both carry the same genetic fault. There is a one in four chance that each pregnancy the child could be affected. I’m not sure of the figures if an offspring was just a carrier.
remote asks: What treatment is available for sufferers of EB?
Michael Fitzpatrick: There is no one treatment. Treatment is more around managing the symptoms and effects. Dressing and bandaging play a large part and these can be very expensive for families. It is hoped that one day we will be able to find a cure or an effective treatment through research.
Shed asks: Are doctors hopeful of finding a cure?
Michael Fitzpatrick: Research is being conducted around the world. The hope relies on gene therapy. As stated in the story we hope this will be within the next decade.
Molly asks: If you are born with it does the disease show itself immediately or can it slowly develop with age?
Michael Fitzpatrick: It depends on the type of EB. There are three main types of EB. In most cases it is present at birth. The three main types are dystrophic, simplex and junctional.
yam asks: Was your son diagnosed with EB when he was born, or did it happen a short time later?
Michael Fitzpatrick: Connor did have EB when he was born which only showed on two thumbs. He was eight months old before he was successfully diagnosed and the test results came back.
Amanda asks: Which form of EB does Connor have?
Michael Fitzpatrick: adidas philippines instagram Connor has junctional EB. Even though there are three main types there are 12 sub types. Connor has junctional non herlitz With the other form of junctional, called herlitz, most of these children do not make it past early infancy. Connor has a trachy, which is more associated with non herlitz.
Fizzy asks: Is there any way to detect this disease before birth?
Michael Fitzpatrick: adidas philippines price list Yes there is. There is prenatal testing only available for people with a history of the condition and this must be set up for each individual family. I’m not a medical professional and if people need medical advice on this type of condition they need to speak with their doctor. Debra Australia can provide contacts for people who can arrange this. Debra Australia can also help people with the options available.
Tanya asks: Had you heard of this disease before Connor was diagnosed?
Michael Fitzpatrick: We had never heard of EB before Connor was diagnosed but since then we have learnt a lot.
yewo asks: How hard is it to get by in the world with EB? Will your son be able to live life like non EB sufferers, or will he be very restricted with what he can do?
Michael Fitzpatrick: This depends on the individual. Connor is restricted in a sense that he has to be careful with physical activities. They endure pain most days, all day. The level of pain determines the level of activity. We have always tried to allow Connor to determine what activities he would like to do, he will try anything once.