Albie’s story


Stacey tells us about her son, Albie’s, diagnosis of Aicardi Goutieres Syndrome (AGS)

Tuesday 6th September 2022, our little boy Albie was born 3 and a half weeks early, weighing a tiny 5lb 14oz.

Fast forward to January 2023, after spouts of poor feeding, increased fussiness and being in a Pavlic harness, something still wasn’t right and mother instinct kicked in. 

On the 24th January we took Albie to A&E as he was showing some worrying signs that we thought could have been infantile spasms. The next day we came back to hospital for a MRI on the brain & spine and to talk with the paediatric neurologist. The next day, 26th January, that’s when our world shattered as we were told Albie had Leukodystrophy. We didn’t know what this was as we’d never heard of it. We came away from hospital grieving, angry and raw with emotion. We were grieving for the life that Albie wasn’t going to get and the life we weren’t going to get as parents. Thats when my mother-in-law found Alex TLC, but we weren’t ready to speak with them as we were so upset and angry with the world.

This diagnosis sent us on a whirl wind of many hospital and clinic appointments. And everyone we have met so far within the NHS have been lovely. 

Then in May/ June time, we were ready to speak with Alex TLC to see how they could help. And this was the best thing ever for us. Karen has been truly wonderful; her support and knowledge has not gone unnoticed. We still keep in touch and will continue to do so in Albies journey. The community days organised by yourselves are truly a wonderful thing as it’s great to meet other Leukodystrophy families.  

In August 2023, we got Albie’s official diagnosis – Aicardi Goutieres Syndrome, affecting his TREX gene. We also learned that myself and husband are carriers of a faulty TREX gene. From the official diagnosis, we found a really helpful AGS group on Facebook which is incredible in what is a horrible journey as parents. But it’s allowed us to reach out to people all over the world at different stages in their AGS journeys. 

Albie is nearly 17 months old and in that time, he has endured MRI’s, CT scans, EEGs, Lumbar punctures, countless blood tests. But he’s taken it all like a champ. He’s growing beautifully and is becoming a big boy. We as parents have grown in confidence and are starting to embrace this life as special needs parents. It’s still hard and always will be, we’ll always be angry and upset, but we are trying to turn that negative into a positive and enjoy our time as a family.

What is special about Alex TLC, is that it is a charity (that’s sadly) built on own personal experience. So they understand fully how us and other families feel. But those personal experiences have created a wonderful network of people who can reach out and help one another.

Thank you Alex TLC 🙂