The appointments came and went and there were still no concrete answers, but they did diagnose Alex with failure to thrive and cortical visual impairment. The neurologist suspected that Alex had suffered a stroke and looked like he had Cerebral Palsy, and an MRI was scheduled for about a month out. In the meantime, while we waited for the MRI, he was evaluated by TN Early intervention services (TEIS) where it was found that he was well below the mark in all aspects of development. We were really sad knowing we didn’t have answers as to why he was developmental delayed. 

 

The MRI results finally arrived and went fairly well. The results I had been waiting for were still not going to come. I made an appointment to go in to talk to the neurologist about his results and see if there’s something we should do next because I needed answers. We went in and the neurologist said everything went well. You would think that would be great news, but for us, it meant back to square one with no answers. Still the neurologist kept telling me that he suspected Cerebral Palsy and that doesn’t always show up in an MRI. He then mentioned that he would like to redo his MRI at 8 months of age. I left the doctor’s appointment sad, frustrated, and hurt all at the same time. I cried like a baby because I knew something was not right with my son. 

About a month after his MRI, Alex started having episodes that looked like mild seizures. I made an appointment to see his pediatrician and he made a referral to get an EEG done. We took him to Children’s hospital in Knoxville, TN and they performed an EEG. We got discharged and said we would get the results in a few days. After a few days we got the results that there was no seizure activity and was said to be “essentially normal”. Yet again, we still had no answers. 

I kept searching and searching on google, trying to find some kind of answers for my son. I would drive myself crazy. Being up all night trying to search everything Alex could not do and as to why. Sleepless nights. It was hard. 

 

After 2 months, Alex was 8 months of age, I got a phone call from the neurologist to come in because the doctor wanted to talk to me. I remember the moment I got myself in the car and drove to Children’s…I was shaking. I was scared and I even started crying. I got to the neurologist. The doctor walks in and said, “As I was looking really close at Alex’s MRI we did find something abnormal in his brain. Both sides of his brain is damaged very little and his brain is not growing like it should.” That moment, I couldn’t speak, I was in shock. I remember my lips got stuck and I couldn’t even say a word. I was speechless. Neurologist said let’s go ahead and repeat the MRI since Alex is bigger. I remember I shook my head and left the building. As I got in my car, I broke down in tears. My husband was working at the time so I didn’t know how I was going to tell him without him breaking down. I remember biting my nails so bad. I even bled. I had no choice but to call my husband and tell him the bad news we received about our son, Alex. I remember I couldn’t even speak when my husband answered the phone. He asked me what’s wrong? Is everything okay? I had to break it to him. It definitely tore him to pieces. We didn’t know how we were going to handle any of this.

 

At 8-months of age, Alex got his second MRI done. 3 days later we received his results that both sides of his brain were damaged and it showed his brain was not growing like it should be growing. It also showed he had some fluid in it. The neurologist said he thinks there’s more than just damage and that something genetic is going on. They did some blood work for genetic testing, but all those came back normal.

 

The neurologist referred Alex to see a genetic doctor, but they didn’t get us in until he was 17 months old. Again, we had to keep waiting for the right answers. As the days and months got closer to see a genetic doctor, we finally got our appointment in May of 2023. They did all the panasl and mouth swabs on me and dad and Alex. We waited and waited. It was frustrating to wait and we wanted to know the answers. We still waited patiently.

Finally we got the call from his Genetic Doctor. I remember picking up the phone and said hello. She asked me if I was Alex’s mom and I said yes! She said I’m the genetic counselor, do you have a minute? We got Alex’s results. My heart just dropped. She said we found a gene in Alex and it’s called “GRIN2A.” She explained the best she could about GRIN2A. I myself went on google and started reading about it. I didn’t understand any of it, but finally got the right answer. 

 

At 20-months of age, Alex had a lot of problems with swallowing foods, even stage 2 baby foods. He would gag a lot and cry in pain. Every sip of formula he would drink he would have rashes all over his body and he would cry in pain. So I made another appointment for his pediatrician to see him. I explained that all the formulas we have tried and nothing was working. If anything, it was making his body much worse with stomach pain, constipation, throwing up, and rashes all over his face and body. My son was in so much pain. It was sad seeing him suffer this way. So his pediatrician put a referral to see a Gastroenterologist and they called me the next day, which was great! They were amazing doctors. They did all kinds of blood work. We waited for those results which came back pretty fast. Alex is allergic to Cow’s Milk, eggs, soy, and sesame seeds. No wonder my son was in so much pain! The  gastroenterologist sent me some samples of Kate Farm formula that does not contain milk, eggs nor soy and insurance pays for them, so they will send me some every month. Alex did great on this formula and still to this day, he’s doing really good on them.

 

Alex had bad acid reflux to where he was in so much pain throughout the day and night. He would get sick every other week with pneumonia, croup, flu and all kinds of viruses. It was back to back at his pediatricians office. His pediatrician put in a referral to see a pulmonologist. Alex got diagnosed with Asthma, so he has to have an inhaler with him at all times. 

 

Still Alex was suffering a lot with reflux and getting sick with pneumonia every other week. Nights were always the worse when he would get sick. So we went back to his Gastroenterologist doctor and I explained that I can’t see my son suffer the way he was suffering. He put a referral to see a surgeon to talk about getting a Nissen fundoplication surgery to stop the reflux coming back up. We got the call pretty quickly to come talk to the surgeon. We went and explained everything to him, he was pretty good at listening and said ok lets get it done! He also explained that a G-Tube will have to be placed because Alex would not be able to burp on his own like he usually does. Again I was speechless…a G-Tube?

Everything just ran through my head. How am I going to handle seeing my son with a G-tube? There were millions of questions running through my head. He also stated that Alex’s testicles were not in his sack and that would be another surgery to pull them down. If it wasn’t one thing, it was another.  I signed the papers to get it done, with tears in my eyes. I remember the surgeon patting my shoulder telling me everything going to be okay.

 

It wouldn’t be Alex’s story if I didn’t have at least one paragraph about his 3 sisters. The bond they share is like no other. Alex knows voices and when he hears his sisters talking to him he bursts out laughing. We cannot forget he is his Daddy’s boy all the way! Their bond is incredible. It’s amazing.

 

Alex is the happiest little child out there. He has the absolute BEST smile and when he’s excited, the whole room knows it because he just bursts out laughing. He has brought so much love in our lives. He has made me a much better person. Having a child like Alex really changes your perspective on life. It allows you to understand that everybody’s perspective of their situation is their own. You aren’t in their shoes. You don’t know how they feel. You also don’t know how you would feel or handle situations they’re in. These are just “life” things that Alex has taught me. 

 

Alex brings joy to everyone with his sweet smile. And for that, I thank God every day he chose us, our family. WE are the lucky ones.