6 month old baby, Indi with rare genetic condition

Dear family, friends and supporters, we come to you with a heartbreaking and devastating story of a young family from Sydney’s South. Georgia Perrin and Thomas Szabo have 2 beautiful daughters, Amarni Rose Szabo who turns 2 on 11 August and their newest addition to the family, Indigo Grace Szabo who was born on 19 January 2023.

Their beautiful and brave Indi is currently in a medically induced coma and is battling upwards of 20 seizures per day since she was 6 weeks old. At just 6 months old, Indi has spent more than half her life in the Sydney’s Children’s Hospital with her worried mother, always by her side. Despite her young age, Indi has shown incredible strength and resilience in the face of this challenging condition and after a long and painful 173 days has finally been diagnosed on Tuesday, 11 July 2023.

KCNT1-Related Epilepsy is an ultra-rare disease with only 1 of every 2 million children around the world annually diagnosed. Infant-onset seizure disorder is caused by mutations in the KCNT1 gene. Some cases lead to severe, early-onset, intractable (unresponsive to medications) seizures and encephalopathy (widespread injury of the brain that leads to altered structure and function). KCNT1-Related Epilepsy is a disease that affects the functioning of the brain. Children with KCNT1-related developmental and epileptic encephalopathy typically experience seizures that start early in infancy, sometimes even shortly after birth, just as Indi has. Seizures consist of focal stiffening or shaking in one part of the body that may spread to involve both sides of the body. Epileptic spasms, a type of seizure that involves repeated muscle contractions and/or stiffening. These seizures are difficult to control with anti-seizure medications meaning that unfortunately there is no cure or way of helping little Indi. Having KCNT1-related developmental and epileptic encephalopathy also causes delays in reaching developmental milestones and may not attain the ability to walk or talk. To add to this Indigo is planned to have an open heart surgery due to an abdominally large hole in her heart.

Indi’s devoted parents are now facing their worst nightmare of their child being diagnosed with an incurable gene mutation. On top of that, they are facing financial difficulties due to the overwhelming medical expenses associated with Indi’s ongoing treatment and the rising cost of living pressures/costs. Georgia and Thomas are doing everything they can to help their little girl to make ends meet. However, with one parent as a full-time ongoing carer to Indi and a toddler, any financial assistance would be a weight lifted off their shoulders.

We have had an overwhelming number of requests on how one can help, so we are kindly asking for your support in raising funds to alleviate the financial burden, allowing them to focus on providing the best care and support for their daughters. Together, we can help Georgia, Thomas, Amarni and most importantly help Indi during this incredibly difficult time.

Every donation, no matter the size, will be greatly appreciated. Thank you xx