My name is Amanda and my husband is Jason. We have two beautiful children together – Our oldest, Baylor(6) and our youngest, Brewer(21 months). Our pregnancy and delivery with our daughter Baylor seemed pretty typical. We had no issues getting pregnant, check-ups were consistently normal and overall it was just easy and everything we expected it to be. Life was good and our family was happy, but we knew there was something missing.

We decided it was time to grow our family one more time but we soon realized it wasn’t going to be as easy as it was before. During this time, we experienced two miscarriages. It was a difficult time for us but we made the decision to try one more time. You know what they say, “third times a charm!” We were pregnant! But then again, things were not as they once were before. We had many pregnancy scares from the very beginning.(Lower heart rate, bleeding, cramping, low kick counts, little fetal movement and so on) This pregnancy was going to be far from stress free or easy but I was always told that the baby was healthy and some of the things I was experiencing were normal – In my heart I knew something wasn’t quite right. 

Time goes on, I luckily made it to 38 weeks and we plan for our c-section. Just one day before our scheduled date of delivery, here he comes. Brewer was born on May 29th 2022. Brewer was born blue, but came to a normal color fairly quickly. I was assured that he was doing well and was healthy. When we brought Brewer home from the hospital, feeding became a pretty severe issue. Every 4oz feed took longer than an hour or two with 10-15 minute breaks in between. We were literally trying to feed him 24 hours of the day. It was exhausting! Luckily after a few months, feeding became easier but we started to notice other things. He was showing delays in many areas of development, if not all. Originally we thought malnutrition could have played a part in this but our doctor was pretty certain he had never been malnourished. She did express concerns while mentioning a word I had never heard of until that day – “HYPOTONIA.”

Instantly my world came crashing down on me and everything I thought “would be” was in question. Google became my best friend and also my worst enemy. We immediately reached out to early intervention and scheduled an evaluation. Unfortunately at four months old, he did not qualify – but some concerns were definitely present and were instructed to call back in a few months. At 6 months old we again reached out to Early Intervention, but with a more definitive amount of reason and proof for necessary therapies. Of course, things did not go as planned, and he was put on a waiting list that lasted up until he was about 11 months old.

At this point my husband and I could not sit and wait around. We knew we were facing some serious issues that we needed to take control of and we needed to take control ASAP. On top of Brewer’s significant delays, he was displaying many odd and unusual behaviors. Most of these behaviors looked similar to seizures, infantile spasms and ticks. We decided these movements and behaviors were pretty far from the normal so we decided to seek care with our pediatrician and also a neurologist at CHOP (Children’s Hospital of Philadelphia). After a visit with each doctor, the overall outcome was the same. “He’s okay.”

After a week or so, I still wasn’t happy with him just being “okay”. My daughter did not exhibit these behaviors, so why is he? I demanded an over night EEG at CHOP. We were brought in right away due to many of the other concerns we had. As we were hooking Brewer up to the monitors, he was displaying the unusual movements he had been having for weeks prior. We were admitted for a few days which felt like weeks, the worry and fear of the unknown was painful, and in the end, to be told it was nothing was leaving us with even more anxiety and stress. During our hospital stay, the doctors conducted a 24 hour EEG and MRI – both were clean. As a result, we were told to reach out to a CHOP geneticist.

Our journey with our wonderful geneticist at CHOP began shortly after our hospital stay.  We met a few times, drew a full blood panel and still had no answers. After receiving no new information on Brewer, our geneticist decided it was time to look into WES genetic testing. After multiple attempts with our insurance to get the test approved we were blessed with an anonymous donor willing to cover the expense of the test. Come to find out, the person to cover our testing would be the one who discovered GRIN2B, the condition in which Brewer would soon be diagnosed with.

Brewer was diagnosed on July 24, 2023 with GRIN2B-related neurodevelopmental disorder. Since his diagnosis, we’ve been living with constant worry, extreme anxiety and a feeling of isolation from the world. A parent’s living nightmare. But with his diagnosis, comes unimaginable strength, courage, determination and growth. There are also many days when miracles happen. Our days with Brew begin and end with endless smiles, giggles and so much happiness. Brewer is full of love and joy. Learning to take nothing in this life for granted is easy with a child like Brewer. We adore him and could not imagine a life without him. We are so proud to call him ours. We are looking forward to the future and overcoming the obstacles coming our way. As a family, we are always resilient and ready!