Family struck twice with extremely rare fatal condition

Jan 2013 Anita was born, she was hitting all her milestones and seemed healthy until 9 months old, she started getting a tremor and got quite shaky in her movements

June 2015 she had a StarShip appointment with the neurologist, who admitted her for intensive tests to see whats going on, months back &forth between still no answers.

As she got older she declined quite quickly, she stopped sitting, walking along furniture etc.

Eating &drinking become to dangerous, she started aspirating& getting pneumonia the decision was made to change to gastrointestinal feeds. Anitas seizures became far worse, nearly everyday she needed emergency anti epileptic medication and required oxygen at home.

On March 12th 2019 Lisa found her seizing &called 111, she was rushed to Waikato where she continued to seizure, no meds would help, her oxygen was dropping &she was put into a induced coma, she was still seizing while incubated. On March 15th 2019 she was taken off life support, she took her last breaths in her mothers arms. After she passed away she finally got answers as to what caused all of this, she had two mutations in the gene of RARS2, PCH6

Lisa has another daughter Grace who was born Oct2021. Bloods were taken asap& sent off to the lab to test her for PCH6. After months of no results they were told they were sent overseas instead of the genetic lab here in NZ so finally in September 2022 they got the results, Grace has the exact same genetic Anita had.

Any donations will help tremendously