Three days after Jovi and his parents were tested using trio-whole exome sequencing, he was diagnosed with a severe, life-threatening condition: Spinal Muscular Atrophy with Respiratory Distress type 1 (SMARD1). This disease is so rare that only around 60 people are known to be affected in the world.
It was with both relief and sadness that we learnt of her diagnosis. Of course we knew there was very likely an underlying cause for her long hospital admission and difficult start to life. What the diagnosis has meant for her is that she has had access to early intervention since she was a newborn and is doing remarkably well.
Joshua Stirling and his family were inducted early into the so-called diagnostic odyssey. It began when the healthy baby boy was six months old and he had his first seizure. One month later he had a second one.