Anthony's Avengers

My name is Amanda Simington and I am a single mother of Anthony who was diagnosed with Neuronal Ceroid Lipofuscinosis Type 7, also known as Batten Disease at the age of 4. Batten Disease is a rare, terminal genetic disease and affects the body’s ability to dispose of waste and causes the buildup 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, loving 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 soon realized 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 they believed to be frontal seizures, but in fact, only made him worst.

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 a different 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 is 100% feed through 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.

The BDSRA is an advocacy group for families with affected love ones who have been diagnosed with Batten Disease. They provide research information, advocacy and grief support to families in need. We are partnered with the BDSRA to continue raising awareness with the hopes that one day there will be a cure. Any donations will contribute to the BDSRA's efforts to support family who are experiencing financial hardships.

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I am a Batten Advocate for a Cure because I believe everyone should be able to live a long, healthy, fulfilling life.

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