After a very normal pregnancy, and semi-normal birth on February 22, 2016, Leo made his way into the world. After the first couple of days my husband and I started to worry that something wasn't quite right. Leo was unable to keep his temperature up and had an odd jerking movement that we noticed. The doctors all brushed us off and insisted nothing was wrong, we were just paranoid new parents. So we took him home and tried to ignore our guts. After just a few days home we couldn't take it anymore. We knew in our hearts something just wasn't right. We took him straight to the children's hospital that was an hour away and hoped they would listen. And thankfully, they did.

The doctors all agreed something was going on and ordered blood tests and an MRI. We will never forget when the doctor came to our room to give us the results. She sat us down, with a team of interns around her, and instantly started crying. I had never seen a doctor cry before so of course we knew this was not good news for our new, tiny baby. She informed us that Leo's myelin, or white matter, wasn't as developed as it should be and that he had a brain bleed. They asked me time and time again, was I sure he wasn't premature? Was I sure I didn't have my dates wrong? Was I sure I hadn't gotten sick during my pregnancy? I was sure on all of these, the answer was no. The next few weeks, and even months are a blur of genetic tests and trying to piece together the puzzle pieces of what was causing all of Leo's issues. Meanwhile, Leo continued to develop new symptoms. He wasn't meeting milestones and eventually lost the ability to safely swallow. While we were admitted for Leo's g-tube placement, the genetics team suggested doing a whole genome sequencing. Since Leo was admitted at the time, we were able to bypass the several-year waiting list for this test and would get the results in a few months.

We anxiously waited, and finally in December of 2016 we got a phone call saying that we needed to come in. The results were back. Diagnosis Day is one that no parent will ever forget. My husband and I sat in a tiny room as they proceeded to tell us that our baby has an inherited genetic disorder called Aicardi-Goutieres syndrome, or AGS. The disorder affects mainly the brain, the immune system, and the skin. It was incredibly rare and no other cases had been reported in Oklahoma at the time. The geneticist gave us pages printed from the internet and said Leo has the most severe type, Trex1. Life expectancy was about 10 years.

Fast forward to now and Leo is doing much better than we ever expected. He is a very social, happy little boy. He has taught us that communication is not always words and sentences, but can be so much more. Leo tells us so much through facial expressions, noises, and movements. We want the world to know that Leo is just a normal little boy regardless of his diagnosis. He has the same likes and dislikes as any three year old would. I think people see him in his wheelchair, nonverbal, and assume he is not cognitively aware. They assume he doesn't understand what they are saying or what is going on around him, but he does. My wish would be that the world treats him

no differently than any other little boy.

To learn more about Leo and keep up with the Lowery family’s journey, follow @lauren_nia_lowery on Instagram and visit www.thislittlelifewithleo.wordpress.com!

no differently than any other little boy.

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