My name is Amanda and my son, Anthony, he was diagnosed with Neuronal Ceroid Lipofuscinosis Type 7, also known as Batten Disease. Batten Disease is a rare, terminal genetic disease and affects the bodies ability to dispose of wastes, which causes build up of fats and proteins in the brain.

Throughout my pregnancy with Anthony and after his birth there were no indications that anything was wrong. He was a happy little boy who loved to watch Marvel movies, play with his action figures, listen to stories and play outside. When he was 4, he started showing signs that something may be wrong. He started running into things, tripping over things and having seizure-like movements. At first, I didn’t think anything of it because that was Anthony’s personality, full of life and always smiling, laughing and being silly. However, I realized that he wasn’t playing around and something wasn’t quite right.

On November 30, 2020, Anthony was admitted to the hospital for seizure like movements, we sat in the children’s emergency department waiting to hear the next steps, but doctors were conflicted on whether or not he should be admitted. Once he was admitted he had the seizure like movement again and the doctors in the room at the time said it didn’t appear to be a seizure. However, they proceeded to get an EEG and MRI completed. The EEG didn’t show any signs of seizures, but did show it was abnormal. The MRI showed that he had some fluid on the brain and they ruled it as Dandy-Walker and gave us a referral to the neurosurgeon, who later ruled it out. We left the hospital that day still confused as when we arrived, Anthony was prescribed medication for what the believed to be frontal seizures, but made him have more seizures.

The next few months we started engaging in physical therapy, occupational therapy and speech therapy. However, during this time his symptoms were not improving and doctors kept switching medication to the point I was unable to recognize my son. He was no longer the happy, silly, laughing little boy I once knew. I felt like doctors were not listening to my concerns and I eventually change to the other Children’s hospital and got a genetic test done.

In July 2021, I got the official diagnosis and didn’t understand what was to come. Now, Anthony is no longer weight-bearing ,completely non-verbal and slowly losing his vision. He now depends on me for all his needs and recently had a procedure for a g-tube. However, through it all Anthony is finally on medication that no longer sedates him and he is always laughing and smiling and will light up a room.

It took a lot of advocacy and tears to ensure I found out what was going on with Anthony. I went to every specialist and doctor I could think of and did not settle when they tried to misdiagnosis Anthony. And although Batten Disease is a terminal disease, Anthony is loved and has the best life anyone can ask for.

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