Carson was born on April 6th, 2016, a healthy, full-term baby boy.  He passed all his newborn tests and came home from the hospital on time and with no known issues of any kind. However, around 4 months of age, we noticed that he was not reaching important milestones.  At Carson’s 4-month appointment, he had only hit 2 out of 5 milestones.  At his 6-month checkup, he was not holding his head up, not making sounds, and was not visually tracking. Therefore, his pediatrician made a referral to the Neurology and Ophthalmology departments at Vanderbilt’s Children’s Hospital in Nashville, TN.

The appointments came and went and there were still no concrete answers, but they did diagnose Carson with Failure to Thrive and cortical visual impairment.  The Neurologist suspected that Carson had suffered a stroke, 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 Carson was well below the mark in all aspects of development.  When they told me the results would be hard to read, I said “Nah, I’ll be fine.” I am an Occupational Therapy Assistant and often must talk with families about their loved ones. Plus, I already knew he had deficits. Well, it is one thing to know your child has deficits but for a professional to write them all out on paper is a whole other ball game. To say the least, it was very hard to read the results. I cried quite a bit.

As we continued to wait for the MRI, he started receiving Physical and Occupational Therapy services as an Outpatient and Developmental therapy services in our home.  After a month of these therapies, he was referred to Speech Therapy because of his coughing while eating/drinking and his lack of oral motor skills.  He was not chewing any of the level 2 baby foods.

The MRI date finally arrived and went fairly well.  The results I had been waiting for were still not going to come.  The “stroke” that the Neurologist had mentioned, did not show up on the MRI.  You would think that would be great news, but for us, it just meant back to square one with no answers.  About 2 weeks after the MRI, Carson began having episodes that looked like seizures.  After 2 days of these off-and-on episodes, we took him to the Children’s Hospital and they performed an EEG.  While we were there, he was seen by several Neurologists and other specialists who all said they had “no idea” what these episodes were.  He had X-rays and bloodwork while we were there, and everything was normal.  The EEG results came back with no seizure activity and was said to be “essentially normal”.  He was discharged after 3 days, yet again, with no answers.  

He had another appointment with a Neurology- Geneticist who was the first person to tell us “If I knew what I was thinking it could be, I would tell you.” FINALLY, an honest doctor who doesn’t just make something up! The basic genetic testing was completed with no abnormalities. Then, another genetic panel was tested, and then another… it seemed like it would never end. Carson continued to see this doctor and they completed an abdominal ultrasound to rule out other various things.  All these specialists and still no answers. I was even told a few times, “You might just have to wait and see what else comes up that could help us better diagnose him”.  Ummm, no thank you…I will find out what is wrong with my son.  

Our pediatrician suggested we go to the Mayo Clinic for further diagnostics. So, that’s what we did.  The visit to Minnesota was incredible! The doctors, nurses, and all the staff were fantastic! We had long sit-down conversations with these specialists and then they met afterwards to discuss a course of action. The last sit-down we had was with Neurology and it was by far the hardest. We were told that Carson ‘s MRI from Vanderbilt Children’s was not normal and that it showed cerebral atrophy. This would suggest that he had something Neurodegenerative. Sitting in that room was the longest 10 minutes of my life. Listening to someone tell us that our precious 13-month-old baby boy was going to die but had no idea how or when was almost unbearable. I remember one of my first thoughts was “How are we gonna tell his big brother Tanner.” 

Before we left the Mayo Clinic, they instructed us to get blood work done for a test called Whole Exome Sequencing. This is a test to identify genetic variations. They took Carson’s blood, my blood, and his dad’s blood for this specific test. 

Carson, with both his dad and I, had spent a week in Minnesota going to appointments and having tests run. Then we were home, waiting for answers that I realized may never come. It was several months before anything else happened. 

When Carson was 15 months old, he began to let formula dribble out of his mouth when he took a drink. Just barely making it to the sippy cup stage, he had to go back to a bottle. As far as food is concerned, he still couldn’t chew anything but was able to swallow. He began coughing a lot more while he was drinking so we knew we had to schedule another swallow study. 

Not too long after he started having swallowing difficulties, he ended up getting sick and we had to stay in the hospital. While we were inpatient, they went ahead and did another swallow study. This swallow study showed that he was aspirating on thin liquids. Since he would not suck from a sippy cup, we had to give him thickened liquids with a syringe very carefully. Ultimately, it proved to be almost impossible to get all the daily needed nutrition in. We tried hard, so hard, but he just was not consuming enough. A couple of days after we were admitted, we ended up having a second swallow study completed. I remember being in there with him and having the Palliative Doctor with me and hearing them say to stop the test because he was aspirating on everything at this point.

This. Was. Hard. 

If you remember, the Neurologist at the Mayo Clinic suspected he had something Neurodegenerative, and this decline would fit perfectly in that scenario. I was numb. I couldn’t fathom this being our reality. Again, my mind goes straight to “how do we tell Tanner?” That was always the hardest for me. Tanner absolutely ADORES his little brother, and while I couldn’t imagine telling him that his little brother was going to die, I couldn’t imagine not telling him either.  

This hospitalization ended up being almost 30 days. Carson had so many ups and downs, and even more setbacks. He would have blood sugar issues for one week, constipation and vomiting issues the next week, and then we were back to neurological issues again. He had another EEG while we were inpatient and again, we were told that everything was fine. They administered Nasogastric Intubation (NG tube) soon after the last swallow study. It only took less than a week for me to ask for a Gastrostomy Tube (G-Tube) for permanent placement. He had been so sick that it ended up taking a few extra days to get it placed. Getting him used to the formula and feeding through his tube was definitely a challenge for his little body. Before we were discharged, Carson was admitted under the Palliative Care Team and Hospice was set up for him in the home. Still no diagnosis… only a terrible prognosis.  

Several months went by and Carson didn’t make any gains, but also didn’t have any more setbacks. This was encouraging yet very confusing, and the roller coaster of our lives continued.

After being on hospice for nine months, the test results from his whole Exome Sequencing came back with a diagnosis! At 22 months old we were told he has a rare, genetic disorder called GRIN1. At that time, there was one clinical study that I recall with a total of around 25 people documented with GRIN1. In the entire WORLD! Then, we are told this is not actually neurodegenerative! I can see where at this very moment, you would think how excited I would be, but I was indifferent. I was happy, but the reason I was indifferent was simply because the last nine months I had lived as if my son was going to die at any given moment, and then the roller coaster continued with ‘we have a diagnosis, but we have no information to give you on it.’ Basically saying “Good luck! Let us know what you find out!”

We made a follow-up appointment with the Neurogeneticist at our Children’s Hospital, which turned out to be non-productive. They knew less than we did and presented us with the same clinical trial we had already found. We had already found a GRIN1 Facebook group that was more informative than any doctor we had seen regarding his GRIN1 diagnosis. We stopped seeing genetics specialists, but he still has his fair share of specialists at Vanderbilt Children’s Hospital who we absolutely love! We also fired the first Neurologist who told us everything was fine after finding out his EEG’s were also NOT normal! 

Over the years, Carson has made progress but has had setbacks as well. He has lots of respiratory issues which are chronic and do not go away even when he’s healthy. He requires oxygen at times and has daily respiratory treatments that increase in frequency every time he is sick. In his 7 years with us, he has had at least 30 hospital stays with over half of those being in the ICU. His Average length of stay is 3-5 days with 90% of his admissions being for respiratory infections. When Carson gets a “cold”, it’s usually bad. Carson has several other diagnoses caused by his GRIN1 but respiratory failure, neuro storming, and hypotonia are, by far, his most debilitating for him. 

It wouldn’t be Carson’s story if I didn’t have at least one paragraph about big bro, Tanner. Tanner is Carson’s favorite person. The bond they share is like nothing I’ve ever seen. Even from the youngest age, Tanner has been all about Carson. Now, at age 12, Carson goes to all of Tanner’s football and baseball games. Tanner has recently taught him how to play basketball in their new pool! Yes, it is precious and yes, I share all of it on social media with #carsonsjourney so if you want to see the most precious thing, check these two brothers out! 

Carson is the happiest little kid out there. He has the absolute BEST smile and when he’s excited, the whole room knows it because he’ll be screaming about it! He has brought so much love to our lives. He has made me a much better person. Having a kid like Carson 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 Carson has taught me. 

Carson 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.