so i dont have any info other than that we are in Sydney Australia and hubby's DNA was sent to Griffith university for testing however they got nothing and they've had in for 12 years as well as our three year olds daughters for a year or so now still can't confirm EA2 however clinically its text book. so now the sydney children's hospital has sent off my daughters DNA to England to be tested in a new line of testing has anyone heard anything of this new testing in England? they said she will be the first child and the only person on it whom has EA2, epilepsy, global delay, a right sided tremor and autism. that part wasn't surprising. incidentally anyone els have all of the above or some of i can only find one study of a boy in the us and its online 300 words not much to go on.
Yes I have. In fact I attended their first conference as a social scientist, therapist and patient. The project is called Genomics England. The government has granted £100m for the first stage of the project which will last 3 years. You can read more on their website Genomics England. If you need any help or more information you can email me at ■■■■■■■■■■■■■■■■■■■■■
I will be pleased to put you in the right direction.
I had genetic testing 4 years ago, by my neurologist at the John Hunter Hospital in newcastle NSW Australia. I was tested because both my mother and aunt had cerebella ataxia. The test came back confirming I SCA6. It was not the news I wanted
After diagnosis of SCA I donated DNA for research purposes. All I know definitely is that
I test negative for SCA6. It’s probably unrealistic but I would like to know what other types
they might test against.
me too! I have SCA6 like my mother. It is the best ataxia to have, at least it is slow growing.
Fiona
gail said:
I had genetic testing 4 years ago, by my neurologist at the John Hunter Hospital in newcastle NSW Australia. I was tested because both my mother and aunt had cerebella ataxia. The test came back confirming I SCA6. It was not the news I wanted
I was at the first meeting of Genomics England,
Genomics England’s first ‘Town Hall’ Engagement Events on Thursday 3 October 2013 http://www.genomicsengland.co.uk/events/
It was very interesting and looks promising
Hi Alan
I missed you then. If I knew you would be there I would have come earlier so that we could meet. I was there for the afternoon session which was for professionals. I attended as a social scientist, nutritionist, therapist and patient. It looks promising for sure. Will you be attending the Disability Rights UK meeting on 31 October in London? Let me know if you will be there. We can arrange to meet. Best wishes.
Alan Thomas said:
I was at the first meeting of Genomics England,
Genomics England’s first ‘Town Hall’ Engagement Events on Thursday 3 October 2013 http://www.genomicsengland.co.uk/events/
It was very interesting and looks promising
thanks everyone i will check out the links. Gail i know the john hunter well i think Mat Edward's was the geneticist there he has been helping our family for 15 years was very happy when we ran into him at campbelltown hospital when my daughter had her first attack.
sorry chaotic busy here
yes it is a shame we didnt meet - I had another meeting in the afternoon with the World Travel Market CEO round table (for accessible tourism)
I will be in London again soon (will let you know)
hope your fine and Dandy
Alan
I saw the neurologist Dr Louselle, I have also seen the Genetic Councillor, through Hunter New England Health at Waratah.
I was told SCA6 is inherited and my children have a 50% chance of also developing the decease later in life, if they are blessed in not having the decease, the decease will not pass on to future generations. I can have the option to have both my children tested (19Yrs, 23 yrs) but have decided not to at this stage.
becknscott said:
thanks everyone i will check out the links. Gail i know the john hunter well i think Mat Edward's was the geneticist there he has been helping our family for 15 years was very happy when we ran into him at campbelltown hospital when my daughter had her first attack.
Although at present the reason I have SCA is not known, my mother had similiar symptoms
which were never identified before she died. My children have no desire to find out if the
condition is genetic anyway, despite the fact that they are both adults and could at any time
decide to start a family. There are other implications to take into account, insurance cover
etc. Any known condition is supposed to be disclosed.
Is it responsible to tell your children if you know the condition is genetic, bearing in mind
there’s something like a 50-50 chance of inheriting? Or, is it better to wait and see? Knowing
about something that might or might not happen, can leave someone living with a burden,
possibly unnecessarily, for years.
For what it’s worth, my personal view is if it’s genetic, it should be made known.