Jo's eye job :) Achromatopsia study
Donation protected
Hey friends and people taking time to check out our story... hope everyones having a great festive season... the new year is bringing us some big adventures and challenges.. Jo has been offered a position to be part of a new research study on her extremely rare genetic eye condition.. Achromatopsia..
Basically it's means she can only see in black and white, is severely short sighted ( what you can see at 45m away is equivilent of her vision at 6m ) and also has photophobia, meaning the glare from sunlight is extreme... she has to wear sunglasses and special contact lenses outside or in bright rooms.. and causes consistant migrains.. it also means she cant get a licence or beat Pat Rafter at tennis :-)
but she can be an extremely talented artist: https://www.facebook.com/JoRigbyArt/
an amzing singer:
www.totum.com.au
and the best friend, wife, mother and daughter you'd ever want..
We are trying to raise money for travel expenses as we need to travel to Florida for 2 days, every 6 months for 2 years.. so 4 trips.. and we are hoping to be able to take our 7 month old son, Abel as he is still breastfeeding..
They have done tests on animals with the same eye condition with very positive results... in particular with the photophobia part of the condition.. which is the worst part for jo as it causes the migrains and extreme glare outside.. This study is the pre curser to the actual human trials of the gene therapy treatment of Achromatopsia focusing on the Cnga3 gene ( even rarer as that particular gene is only in 25% of the few that do have Achromatopsia) and we are trying anything in our power to be a part of it and help Jo and the other few who suffer from this condition.
Basically it's means she can only see in black and white, is severely short sighted ( what you can see at 45m away is equivilent of her vision at 6m ) and also has photophobia, meaning the glare from sunlight is extreme... she has to wear sunglasses and special contact lenses outside or in bright rooms.. and causes consistant migrains.. it also means she cant get a licence or beat Pat Rafter at tennis :-)
but she can be an extremely talented artist: https://www.facebook.com/JoRigbyArt/
an amzing singer:
www.totum.com.au
and the best friend, wife, mother and daughter you'd ever want..
We are trying to raise money for travel expenses as we need to travel to Florida for 2 days, every 6 months for 2 years.. so 4 trips.. and we are hoping to be able to take our 7 month old son, Abel as he is still breastfeeding..
They have done tests on animals with the same eye condition with very positive results... in particular with the photophobia part of the condition.. which is the worst part for jo as it causes the migrains and extreme glare outside.. This study is the pre curser to the actual human trials of the gene therapy treatment of Achromatopsia focusing on the Cnga3 gene ( even rarer as that particular gene is only in 25% of the few that do have Achromatopsia) and we are trying anything in our power to be a part of it and help Jo and the other few who suffer from this condition.
Organizer
Dave Tweedie
Organizer
Booyong, NSW