Twins Gemma & Shayes Story
Gemma and Shaye are 28 years old twins living in Queensland.
They are twins and have a triplet sister.
They are the oldest known adults with KAND in Australia.
The twins had been diagnosed with Cerebral Palsy when they were younger, but it wasn’t until only 5 years ago when they were 22 years old that they received their official diagnosis of KAND- KIF1A Associated Neurological Disorder as genetic testing advanced.
The girls are diagnosed as legally blind, but it fluctuates from day to day. Some days they can tell you what colour top you have on. They see things moving more than if they are still. Both girls suffered from Seizures.
Gemma seizured for 10 years every time she woke up. If she woke up at 11 pm from a dog barking, she would seizure. I’d give her seizure medication then when she woke up again in the morning, she would a seizure again. It took 10 years to find a medication to help.
Gemma has now not seizured since January 2023 what a record this is. I’ve had both girls seizuring at the same time and I would run from room to room administering seizure medication. Their seizures never started till 10 years old but they might have been having partial seizures before we noticed bigger ones earlier on.
It’s been a long bumpy road but they are such happy loving girls. They absolutely adore their little nephew.
Having two identical twins with KIF1A and them being 28 years old now, our story is a long one but hey they are still with me and I am always keeping a close eye on their health and I know their health problems better than I know my own.
Sandra (Shaye and Gemma’s mum)