Support Sunny’s journey

Hi, I’m Charlotte, mum to 9 month old Sunny. After a seemingly healthy pregnancy Sunny was born under normal circumstances though it became clear very early on that something was not right with our little boy. Doctors were perplexed. At 4 months old, after genetic testing, Sunny was diagnosed with an incredibly rare gene mutation that results in a severe neurological condition. There are less than 50 known cases world wide and the mutation itself has only been discovered in the last 3 years. There is very little known about this condition but what is documented is pretty horrendous. Unfortunately this condition leaves Sunny with multiple severe life long disabilities.

Sunny has Microcephaly, epilepsy, is profoundly intellectually impaired, profoundly deaf and has cortical visual impairment. He is fed through a NG tube and we are awaiting a PEG tube. He has multiple movement disorders and he will be wheelchair/bed bound, non verbal and basically require 24/7 care and medication for the rest of his life.

We have been given an opportunity to participate in research relating to Sunny’s condition and need to purchase a DNA sample kit in the next month which will cost around $2000 AUD. Genetically modified tadpoles will be created using patient specific DNA and they will begin testing medications on these samples. Unfortunately there won’t be a cure for Sunny and our goal is to keep him comfortable for as long as he is earthside. However, if we can in any way contribute to future treatment of this condition through providing Sunny’s DNA to research and possibly prevent or, at the very least, ease the enormous challenges we have had to face as a family it would mean more than we can express. This is why we are asking for help in raising enough money to purchase this DNA kit to get the process started. The only way to understand more is through research.

We appreciate any amount donated.

Charlotte, Chris, Daisy, Harry & Sunny