Our journey with Ella has unexpectedly brought some amazing humans into our lives. Tawnya and her son Trever are two of those people. I asked her to share her story on my page so that you can get to know some of the people walking beside us as we navigate this incredibly challenging and emotionally driven world. My hope is to be able to meet these two incredible souls this summer.

Here is their story….

You’re pregnant with your first child.

You read all the books about pregnancy and child birth, take birth education classes, even hire a doula for your delivery! That special day finally arrives, and you’re more excited than nervous because you are prepared.

Your beautiful first born son arrives 12 days past his due date, a healthy 8lbs 11oz, with the most handsome head of hair. You can’t believe this is real life! You just had the most perfect unmedicated labor and delivery! Better than you imagined… and now you can go home a family of 3 and start your next chapter as a parent.

The thing is, you head home from the hospital beyond nervous and unsure because no book or class can prepare you for the physical and emotional stage of mothering a newborn. Within 24 hours, you’re at his first pediatrician appointment with that “mommy instinct” gut feeling that something is very wrong… and you better buckle up, because it’s going to be a wild ride.

This was my reality. Trever’s pregnancy and delivery were a dream. It was the days to follow that replay in my mind as a nightmare.

For the first several months of his life, Trever was in and out of the hospital because he couldn’t regulate his body temperature, had a bad case of jaundice, got a UTI, was diagnosed with failure to thrive after not getting back to his birthweight within 4 weeks, had a tongue tie, always slept (and I mean always) and would barely stay awake to feed… and the list goes on.

From the start, I learned quickly that I needed to be strong and advocate for my baby boy. I was his voice. He was a very floppy baby, with little to no muscle tone whatsoever. He rarely cried, and he never hit milestones on time. I felt like the only mother in the world who had a child like this & often felt embarrassed and ashamed of our situation. Something within him was causing all these delays and physical limitations and I needed to be the one to get to the bottom of it.

For the past 7 years I have now been a stay at home mom so I can be Trever’s primary caretaker. I am the one who takes him to his therapies, specialists and doctor appointments. We went 5 1/2 years without answers to why he was developmentally delayed. Why can’t he walk independently? Why can’t he talk? Why is he so far behind in so many areas? The answer to all our questions of “why” finally came when we got the genetic results of his Whole Exome Sequencing test through UVA Children’s Hospital in Charlottesville, VA. Trever was one of the rare few (roughly 300 people at that time) in the world who had PURA Syndrome: caused by mutations in the PUR-alpha protein gene, which is vital for brain development. His diagnosis didn’t really change anything, it just finally gave us one more piece to his medically complex puzzle. A piece that brought peace.

When you become a parent, you quickly find out you have to go with the flow and take life one step at a time. Nothing will be “by the book”, and you will go crazy trying to control every step. As I look back at our journey to this point, I wouldn’t change a thing.

Written By: Tawnya Smith

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