From Niamh’s Mother

My 10 year old daughter Niamh started having seizures at age 2. She has been tested for every known condition in the past 8 years including GM1 which was ruled out originally. I have just been told that this is now the diagnosis, with Niamh receiving 2 genes on Chromosome 3 from her father and none from myself. Her neurologist believes she is mosaic – that is, its not on all of her genetic material. I am finding that the medical community in Australia, her special development school and counseling services have no information nor knowledge on this condition in order to help me care for and make sure my beautiful child lives her best life, with the best care possible.

2023 update: 

Read a detailed version of Niamh’s story in six parts!

Part 1

Part 2

Part 3

Part 4

Part 5

Part 6