This is beautiful Eva and this is her story, told by her mum, Ursula.
On the 21st December, 2015 Eva was born. Instantly, things were not right. I was laying awake in the hospital listening to other babies cry but mine didn’t make a sound. We were told Eva just had reflux and we were sent home from hospital. Not long after being home, Eva went into status epilepticus and this is when our lives changed forever. At her worst, she would seize every 20 minutes.
As we continued to fight for answers, we could just never get the seizures under control with countless ICU visits. Just when we thought things couldn’t get any worse, they did. At 5-months-old, Eva had a bleed on the brain and her brain shrunk. We were told to prepare for the worst and that she would probably not make it to her first birthday. We were sent home from hospital under palliative care.
At 6-months-old, we finally got a diagnosis of SCN2A. After a lot of research, I realised that what had happened to Eva had happened to other kids and they were alive! I finally started connecting with other families. As a parent, you feel helpless to love a child so much and not be able to do anything for them. As time went on, a divide emerged within our family. All of sudden, we were not only dealing with our own emotions but the anxiety and beliefs of others.
My sole focus since Eva’s diagnosis is to find a treatment or a cure. The medications that we have to use give our children terrible side effects and only really help to elevate symptoms. They don’t help the disfunction of the gene. We are currently involved in a study out of The Florey Institute in Melbourne. They have taken a biopsy of Eva’s skin and are growing it into a ‘mini brain’. We are hoping they may find a better treatment for her. Without this, Eva may not have a chance. Unfortunately, we have lost many SCN2A children due to infection, seizures or Sudden Unexpected Death in Epilepsy (SUDEP). There isn’t a night that goes by that I don’t kiss her goodnight and hope she is still with us in the morning. When I wake to see her beautiful smile, I know I need to keep fighting for a cure and also gain acceptance for our children in this world.
Please check the Rare Disease page(s) for related Support Organisation(s)