By Suvi, UBE2A Deficiency Syndrome, United Kingdom, February 24, 2021
We are so proud of our gorgeous boy and how he is coping with a rare genetic condition, UBE2A Deficiency Syndrome. Jacob was only diagnosed last July and is now 2.5. His condition affects his motor development, speech and his cognitive development. Jacob also has a form of epilepsy which thankfully is now controlled with medication. Jacob is a cheeky, happy boy who has brought immense happiness to our family. He is very resilient and determined.