Carson was born on April 6th, 2016, a healthy, full term baby boy. He came home on time and with no known issues. Around four months of age, we noticed that he was not reaching his milestones. At his four month appointment he had only hit two out of five milestones. At Carson's six month check up, his pediatrician made a referral to the Neurology department at Vanderbilt's Children's Hospital and the ophthalmologist. The appointments came and went and there were no answers, but he did have an MRI scheduled because the neurologist suspected he had a stroke. In the mean time, while we waited for the MRI, he was evaluated by TEIS (TN early intervention services) where he was found to be below the mark on all aspects of his development. When they told me the results would be hard to read, I said "Nah, I'll be fine." Well, it is one thing to know your child has deficits but for someone to write them on paper is a different ball game. It was very hard to read the results. As we continued to wait for the MRI, he started receiving outpatient physical and occupational therapy and developmental therapy in the home. After a month in these therapies, he was referred to speech therapy because of his coughing while eating and the lack of oral motor skills.
The MRI was on January 11 and it 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. One would think that would be great news, but for us, it just meant back to square one. About two weeks after the MRI, Carson began having episodes that looked seizure-like. After two days of these episodes, I took him to Vanderbilt 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 was wrong with him. He had x-ray's and blood work while we were there and everything was normal. The EEG results came back with no seizure activity, but some slight abnormalities present. He was discharged home after three days and still no answers.
His next appointment was with a neurologist-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 had been complete with no abnormalities. Carson continued to see this doctor and they completed an abdominal ultrasound to rule other things out. All of 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." 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. The visit to Minnesota was incredible and the doctors, nurses and staff were fantastic! His week long appointments had come and gone and still, I wait on answers that I now realize may never come. We found out that the MRI and EEG were NOT just slightly abnormal at Vanderbilt and that he has Cerebral Atrophy which is shrinking of the brain. All of these symptoms, plus his physical abilities, are indicative of a neuro-degenerative disease. Carson had a one month long hospitalization where he had surgery to get a feeding tube due to aspirating on all liquids and solids.
After being on hospice for nine months, Whole Exome Sequencing (which took 6 months) was complete and at 23 months, we FINALLY had a diagnosis. He has Grin1 which is an extremely rare genetic mutation. The gene mutation happened on its own at conception and was not passed down from either parent. There is very little information on GRIN1, but the group of families with other kiddos of GRIN1 has been our biggest source of information. All of the GRIN1 kids have multiple levels of deficits and abilities. Some can walk, some can talk, some are tube fed, like Carson, and some eat regular food. So from here, we will continue his therapies, move forward with different studies and pray for the best.
At three years old, Carson is unable to hold his head up independently, sit up by himself, track objects visually 100% of the time or reach for objects and bring them to his mouth. I say all of these things he cannot do, but we do see improvements every day! He is able to hold his head in mid-line longer than he did at twelve months, he can roll all over the floor (which he was not able to do a year ago) and he has the most contagious and amazing smile you will ever witness! This boy brings more joy to peoples lives than he will ever know! He is beyond precious and God put him on this planet for a reason, to teach us all to be thankful and grateful for each day. God gave him to us to be his voice and he will always spread positivity through me.