Scarlett is an easy going and affectionate seven year old. When she was 18 months old, she was diagnosed with a rare disease known as GNB1 Syndrome. There are less than 100 known cases worldwide.
Scarlett has GNB1 Syndrome, which is a rare disease with less than 100 known cases worldwide. Credit: Supplied by family
GNB1 Syndrome is a genetic mutation to the GNB1 gene that affects one small, but important part of this communication system. Scarlett has severe movement disorder, growth delay, chronic lung disorder, cerebral palsy and epilepsy.
Scarlett has severe motion disorder, which causes involuntary muscle spasms and breathing challenges. Credit: Supplied by family
At the time of Scarlett’s diagnosis, her mum Kate was “heartbroken but relieved to finally have answers” to the challenges her first born daughter was facing. It has been a rollercoaster for the family. The hardest part is the severe motion disorder, which causes involuntary muscle spasms and breathing challenges.
Scarlett loves swimming and enjoys the outdoors and playing at the park with her two younger sisters. Credit: Supplied by family
Scarlett is very resilient and when you ask her how she’s feeling she communicates that she is “loved” and “happy”. She loves swimming and enjoys going outdoors to the beach and park with her two younger sisters.
Scarlett describes how she is feeling as ‘loved’ and ‘happy’. Credit: Supplied by family
Thanks to the generosity of West Australians, Scarlett and her family receive support from Telethon beneficiaries including Ability WA, Hannah’s House, Healthy Strides Foundation and Starlight Children’s Foundation.
Kate says, “Without these organisations, Scarlett would be less mobile and wouldn’t have as much support.” She encourages everyone to dig deep this October so that children who go through so much receive the support they need.
You can donate today at telethon7.com/donate