Jago (2023)

CACNA1E c.2104G>A p.Ala702Thr

After a very normal pregnancy Jago was first diagnosed with arthrogryposis when he was born and gradually over time developed significant dystonic movements with severe contractions of his arms and legs and extension through is neck/spine. He was hospitalised for more urgent investigations after concern from the medical team he was under and because he struggled to gain weight where we found he had severe reflux which we were hoping was the cause to his symptoms but sadly the genetic testing showed CACNA1E. He has an unsafe swallow so was put on an NG feed which has helped him put on weight and will likely remain on NG feeding until we decide to move to a gastric feed. His medication management has been up and down since the diagnosis with minimal success, and unfortunately has recently started to have focal seizures which we are struggling to get control of. He has started regular physiotherapy sessions now but with his symptoms the way they are they currently dominate everything.

We remain hopeful that there will one day be a cure for this awful condition and have found comfort in the CACNA1E community support and extremely useful information it provides. 

Follow Jago and his journey on Instagram: @jagos_journey