When I was around 5 months pregnant I got an ultrasound. I saw my sweet boy doing barrel rolls and rapid kicks in my belly. My heart swelled with pride and love for this tiny little bean. I just couldn’t contain my happiness, until I got a phone call. The doctor told me my baby had a echogenic intracardiac focus on his left ventricle and that this increased his risk for Downs Syndrome significantly. I was shocked and so scared. I’ve never received any abnormal information about any of my previous pregnancies, so I was quite jarred with this information. Moving forward we had another ultrasound and I was told the results were normal and either it was never there to begin with or a mistake on the screen. Relief washed over me and I felt like I could breathe easy. Little did I know this was a tiny bump in a very rocky journey.

Ethan Cole Thomas was born December 7, 2016. He came on his due date at 6:34 am. He was born sunny side up and barely avoided an emergency cesarean due to his positioning. His face was smashed and bruised, his head a little misshaped, but he was mine and he was beautiful. My labor was long and painful, but it was worth the tiny human that was placed on my chest. I loved my boy from the start. After a few weeks, as we were settling into home life, I noticed Ethan was struggling with breastfeeding. He is my 4th child so I felt like I was a pro at this point, but here we sat struggling. He also cried, a lot. At his 3 month check up I told his doctor I was concerned something was different about Ethan, but my concerns were not taken seriously. I was told to see a lactation consultant, which I did and was told there’s nothing wrong with my milk production. I was also worried Ethan wasn’t tracking and lifting his head like he should. His doctor assured me she had no concerns other than feeding, but I couldn’t shake the feeling something else was going on with my baby.

At 4 months old, Ethan got sick and wasn’t eating. I took him to the emergency room because I was worried about dehydration. The doctors were acting funny and admitted him with out telling me the reason. I found out the next day it was for failure to thrive. I was horrified. As a former CHW who worked specifically with women and children in crisis, I knew exactly what failure to thrive meant as well as the stigma attached to it. We spent 7 days in the hospital. 7 days I spent proving what kind of mother I was. A week under scrutiny. I wasn’t allowed to breast feed my baby, but a PT spent 30 minutes trying to get Ethan to eat from a bottle. I pumped every 3 hours, round the clock and watched my milk dwindle every day. I watched helplessly as an onlooker as they poked and prodded my son. They took blood samples, urine samples, spinal fluid…They ran cat scans, MRIs, drug tests and countless vital checks. I was questioned like I didn’t feed my baby. I was treated like a stereotype. And everyday the doctors came to our room without any answers. I begged them for a scale to show how much more I can get him to eat by breastfeeding and finally on the 6th day they brought me one.

The scale revealed Ethan took in over 3oz in 8 minutes, they couldn’t get him to take 1/2 of an oz in the over 20 minutes they spent trying to force feed him a bottle. It didn’t matter though, we left the next day with an NG feeding tube. After the time in the hospital, being force fed, and getting a tube shoved down his nose, Ethan refused to breast feed. I was already losing my milk and his refusals sent me into a depression further drying up my supply. I tried to pump but I was so discouraged by my depleting supply that I finally gave up. This broke my heart. Even writing our story now still brings me to tears because I feel like we were robbed of that time. So at about 5 months, we switched doctors. I’m now convinced it was something to do with my birth experience, that Ethan somehow experienced trauma and something has been damaged. It takes weeks for all the testing to come back, but when the results arrive. I am floored. Everything has come back normal. No one can tell me why my baby is not developing typically. Cerebral Palsy is now a term I’m hearing. They also want to do some additional genetic testing, but his insurance won’t cover it. I had to write a letter saying why I thought we deserved the funding for testing. Finally funding was found and we were able to do the genetic testing his insurance wouldn’t cover.

Again, it took weeks for the results, but finally I received a call that would confirm my suspicions and change our lives forever. My baby has a rare genetic condition called GRIN1. I was told very little information is available because not much is known about GRIN1. Ethan is the only one in Michigan that we know of and is part of less than 400 cases in the entire world. Today my boy is thriving. He had surgery last year for a g-tube placement and it has helped tremendously. Ethan is still very small and struggles with feedings. He still suffers from oral aversion, but he will take a bottle. No solids yet, but we are hopeful one day he will. Ethan is in therapy and I work with him everyday. He doesn’t cry so much anymore which is amazing because he spent about 70% of his first year and a half in tears. He laughs now, which is the best sound I’ve ever heard. He truly is my sunshine. Right now he is still very much behind developmentally, but I don’t want to put limits on my son, he will show us what he can do. Every day I am in awe with his determination. He’s trying so hard to move and control his body and I know he will succeed. 

There isn’t a day where we go out in public and someone doesn’t stop to admire and love on my Ethan. He is so special. I wasn’t prepared for this, no parent is, but I wouldn’t change it for the world. Ethan is the love I never knew I needed. He completes my family. Now that we have a diagnosis we’ve been able to connect with our GRIN1 family from all over the world, we’ve even found one other who has his same variant! To have this bond and be able to talk with other families who understand is invaluable and something I will forever cherish. We are so happy to be able to share our story!