In March 2017 our son Ashley was diagnosed with a non hereditary genetic condition known as FoxG1 Syndrome. FoxG1 Syndrome is a rare neuro-developmental disorder which impacts brain development and function. To date there are only around 350 people recorded to be living with FoxG1 Syndrome worldwide. Of the 350, half of them are tube fed and almost all have epilepsy which is usually drug resistant. Almost none of them walk or talk.

This is our story.

Ashley was our second born and came into the world in August 2016, full term after a normal pregnancy. He passed all of the standard newborn tests and we came home after a few days to begin our lives as a family of four. From his second week of life he became a very difficult baby, crying constantly day and night which often progressed to relentless screaming. Any advice I sought would be answered with “its colic”, or “it’s just that age, it will pass”. We now know that inconsolable crying is a FoxG1 trait. 

At 7 weeks he went for his immunisations and checkup. Here it was noticed that his head circumference measurement was a little low on the growth chart and so I decided to make an appointment with a paediatrician. At 3 months old we had our first appointment with the paediatrician and Ashley was prescribed medication for severe silent reflux and checked over thoroughly. Once the reflux was under control and the screaming had somewhat settled we began to notice some red flags in regards to developmental milestones. Ash wasn’t holding his head as well as he should, he wasn’t reaching and grabbing for his toys and he wasn’t fixing and following with his eyes as a typical baby his age would. So the tests began. 

Ashley underwent  x-ray, MRI, urine and blood tests, was referred to a pediatric ophthalmologist for an eye exam, and we were told to get in touch with our nearest early intervention centre to discuss Ashley with their occupational and physiotherapists. These were very difficult days at home. My mindset would jump daily from positivity and thinking he’s just a bit behind…he’ll soon catch up, to then sitting at the dinner table sobbing while I watched him, knowing in my gut that something was wrong with my baby. Our answer was in the bloods. The paediatrician had ordered a genetic screen to be carried out. Here it was discovered Ashley had a genetic deletion and at 6 months old we were given the diagnosis of FoxG1 Syndrome. This was the worst day of my life. With tears in his eyes our paediatrician went through the characteristics of this disorder stating that “for children with FoxG1 Syndrome walking and talking are usually impossible”, I will never forget my husband butting in to clarify “impossible?” 

It’s been a little over 12 months since that day and we are in a way better place now. Of course the diagnosis hasn’t changed but our perspective on pretty much everything has changed. It’s a sharp learning curve and we are grateful for all that Ash is teaching us about ourselves and for opening up a world we didn’t know existed. He keeps us busy with regular occupational therapy, physiotherapy, speech therapy, and hydrotherapy as well as specialist appointments with his paediatric ophthalmologist, neurologist and paediatrician. Last October Ash had his first seizure and we are currently trying to keep his epilepsy at bay. Ash is also due to receive a feeding tube soon which can’t come quick enough. He feeds orally but each meal is a slow and messy process. Ash is still a difficult child but with support from our family and friends we are taking each day as it comes, making small goals and slowly but surely kicking them. 

Our aim is to make Ashley’s life as mobile, inclusive, and as happy as possible and that’s where your funds will go, for mobility and therapy equipment not covered by the NDIS. In years to come we will also need modifications to our home so Ash has better access, and a wheelchair accessible vehicle. Thank you to everyone supporting him and helping us to give him the best life that he can have.