Hello, I’m Ailbhe and along with Adam, my husband, and Sam (5) and Dara (3), we are the O’Reilly family from Dublin, Ireland. Dara has Glut1 deficiency syndrome and was diagnosed at 19 months old.
He had his first obvious symptom at around 7 weeks old when he had 2 non-breathing episodes. He had a lumbar puncture at this time, but Glut1 was not considered. More symptoms appeared including paroxysmal eye movements and he was diagnosed with myoclonic epilepsy of infancy at 6 months old. Due to his developmental delay, hypotonia and epilepsy he had a genetic test at 15 months old and that’s how we got our answer. It was bittersweet but we were so happy to find answers and such a supportive community. He started on the classical keto diet shortly after and we noticed he was much more alert and took a great interest in books while in hospital. He instantly became seizure free.
And we all lived happily ever after…..well, happily enough. Last April after 17 months of seizure freedom, he is having seizures again, worse than before. Dara now walks independently, has had a speech explosion, and uses some 3-word sentences. He understands similar to a neurotypical child of his age. He is very sociable and fun loving. He looks up to his big brother Sam, who doesn’t fully understand his condition yet.
We had such a great sense of achievement that we were able to attend the Glut1 conference in San Diego with Dara who absolutely loved the traveling, surprisingly, as he is a creature of habit! We look forward to what the future holds for Dara and his GLUT1 friends.
This story was originally published in the January 2023 newsletter from our partner the Glut1 Deficiency Foundation.
