Our youngest daughter Polly was diagnosed with a rare genetic illness at age 2. Polly has a condition called Congenital Myasthenia, which, once diagnosed can be managed with medications and therapies.Ā
The road to diagnosis was tough. The term failure to thrive was employed and we had two years of watching our daughter deteriorate without a known cause. Polly had multiple hospital admissions, a thriving social life with medical professionals and sported a NG tube and hip brace for some of the time. This time for our little family was traumatic. We felt helpless and scared of what Pollyās future might look like and upset for our eldest daughter who couldnāt understand why mum and dad were always gone with Polly.
The day of diagnosis was bitter sweet. Relief that we werenāt going crazy and now the condition was named, but also sad that we had given our daughter a disease neither of us knew we carried. Medication helped Polly massively and the āPolly Pausesā (a name we used for when Polly would appear to be having absence seizures) slowly reduced. But the relief of a name for the condition was immense, whole Exome sequencing had found what 2 other tests had failed to pick up.Ā
Polly has come on leaps and bounds since those early days. She is a happy little girl who is excited to start prep next year! She will always need her medication and wonderful team of therapists/doctors to keep her well! Polly also uses a wheelchair for when her fatigue is overwhelming, but she loves her pink cricket! (the chair).Ā
We, our family, would be so grateful for any donations to raise funds for jeans for genes 2025. You donāt realise how much we need genetic testing and continued research until it hits close to home. Genetics is a vast and confusing area of science and we are eternally grateful to the incredible professors and Drs who found our answer. Thank you so much for your support !
Did you know that
1 in 20 Aussie kids are born with a genetic disease or birth defect? Thatās one in every classroom!
This year, Iām taking part in
Jeans for Genes to help fund the incredible scientists at
Childrenās Medical Research Institute, who are working today to change lives tomorrow.
Your donation will help keep labs running, research advancing, and hope alive for kids who need it most.
Together, we can make a difference.
Join me. Share this message. Donate. Thank you!
Our youngest daughter Polly was diagnosed with a rare genetic illness at age 2. Polly has a condition called Congenital Myasthenia, which, once diagnosed can be managed with medications and therapies.Ā The road to diagnosis was tough. The term failure to thrive was employed and we had two years of watching our daughter deteriorate without a known cause. Polly had multiple hospital admissions, a thriving social life with medical professionals and sported a NG tube and hip brace for some of the time. This time for our little family was traumatic. We felt helpless and scared of what Pollyās future might look like and upset for our eldest daughter who couldnāt understand why mum and dad were always gone with Polly.
The day of diagnosis was bitter sweet. Relief that we werenāt going crazy and now the condition was named, but also sad that we had given our daughter a disease neither of us knew we carried. Medication helped Polly massively and the āPolly Pausesā (a name we used for when Polly would appear to be having absence seizures) slowly reduced. But the relief of a name for the condition was immense, whole Exome sequencing had found what 2 other tests had failed to pick up.Ā
Polly has come on leaps and bounds since those early days. She is a happy little girl who is excited to start prep next year! She will always need her medication and wonderful team of therapists/doctors to keep her well! Polly also uses a wheelchair for when her fatigue is overwhelming, but she loves her pink cricket! (the chair).Ā
We, our family, would be so grateful for any donations to raise funds for jeans for genes 2025. You donāt realise how much we need genetic testing and continued research until it hits close to home. Genetics is a vast and confusing area of science and we are eternally grateful to the incredible professors and Drs who found our answer. Thank you so much for your support !
Did you know that 1 in 20 Aussie kids are born with a genetic disease or birth defect? Thatās one in every classroom!
This year, Iām taking part in Jeans for Genes to help fund the incredible scientists at Childrenās Medical Research Institute, who are working today to change lives tomorrow.
Your donation will help keep labs running, research advancing, and hope alive for kids who need it most.
Together, we can make a difference.
Join me. Share this message. Donate. Thank you!
