“Our Journey” – Kelly

When Trenton was born in New York, he weighed 7 lbs 2 ounces. Before we left the hospital, he dropped to 6lbs 12 ounces, by our first appointment 6lbs 9 ounces and stayed there. He was bottle fed and projectile vomited often. I took him to the pediatrician and they just kept informing me that baby spit up is normal. No matter how much I argued with them it was not just spit up, they didn’t begin to do anything until he finally projectile vomited on them. We were in and out of the doctors at least 2 times a week for approximately seven months. They just kept switching his formula. He got a GI scan and that came back normal. No one knew what to do but he was finally gaining weight so they just dropped it.

Trenton didn’t sit up until he was nine months, did not crawl until after age one, and did not walk until almost two.

We moved to Colorado when he was 11 months. Every time I would take him to his new pediatrician, I was told he was healthy. I would bring up his developmental delays and I was informed that he was fine. A month after he turned two, Trenton would get upset about little things and hold his breath until he passed out. He would get up right after and be back to normal. One day while we were at my parents’ house, he was on the porch with my husband and my dad while I was in the house with my mom. My husband came running in the house carrying Trenton who was not breathing and having convulsions. We could not get him breathing, called 911, and my brother had to give him chest compressions to get him breathing again. That was the absolute worst day of my life. We almost lost him that day, and that was the most painful thing I have ever felt. He got a CT scan which came back normal. We went to his pediatrician and she referred him for an EEG. That came back normal as well. I brought up my concerns again with her about the breath holding spells, developmental delays and speech delays. I once again was told he was fine and as far as the breath holding spells, he would grow out of them. Those were not good enough answers so I started searching for a new pediatrician.

When I started taking him to his new pediatrician, I instantly liked her. His first visit with her, she told us there were some concerns. She referred us to get him evaluated for autism and genetically tested. I called to set him up appointments, and talk about waiting lists! Finally after about a year and a half of waiting for answers, he was diagnosed with X linked creatine transporter deficiency. He was also diagnosed with ADHD, and mild autism, but the autism diagnosis is only because of his lack of speech.

Trenton is now 5 years old and in his second year of preschool. It has been a battle with the school due to his behavior. He is extremely hyper all the time, and puts himself in danger quite often. He does not have seizures. His speech is still limited. He says a few words and can sign 2 words. I will always remember the moment he said his first word, mama. It was like music to my ears. Trenton has a way to make you want to pull your hair out one second and then melt your heart the next. He is so full of life and loves everyone. He says “hi” to almost every person in the store, as long as he’s not in one of his moods. His smile can light up a room. He learns a lot from his little sister, which amazes me every day.

I took his diagnosis hard when we first found out. To me, the unknowns in this diagnosis are the scariest. Even though it’s been a hard road to travel, we will never give up on this little boy. He has opened my eyes to so many things. With my family and I and my husband and his family, Trenton has a great support group. When he was first born, I kept looking at him and saying how perfect he was, that has not changed, he will always be perfect in our eyes and wouldn’t trade him for the world.