Genomic information is already delivering benefits to individuals and their families affected by rare, genetic conditions.
Receiving an accurate and timely diagnosis can provide families with access to new treatments and therapies as well as a clearer understanding of the journey ahead.
“We are extremely grateful that finally we have a diagnosis… Every day is a very big joy for us and we are hoping that he will go like this for a few years at least until there is a better solution.”
This is story of Alan, whose life-threatening immune disorder has been held at bay through the power of genomic information. Alan is one of the first people in Australia to receive a diagnosis from whole genome sequencing that has changed his treatment – and, in Alan’s case, transformed his health.
“He was not allowed to ride on a bicycle, he was not allowed to run around, jump, do normal things that children do.” Tansel, his father.
We invite you to learn more about Alan, his story and the research and technology that has changed his life in our in-depth web feature.
Jaeli and Dali
Danielle Williams has two young daughters – Jaeli and Dali – with a rare condition that approximately 100 people in the world have. They have a range of symptoms, including frequent seizures and movement disorders.
Danielle talks about how they spent years seeing medical specialists, allied health and complementary medicine practitioners before they got a diagnosis through whole genome sequencing.
“We did one whole genome sequence. We got one diagnosis, and now, we have some real hope” Danielle, mother of Jaeli and Dali
A genomic diagnosis has done more than just give them an answer. It has connected them to others with the same condition and given them hope for finding better treatments.
Watch as Danielle shares how a diagnosis for Jaeli and Dali has empowered her family.