Our son, Timothy, is our third and last child. He was born in 1999 in Knoxville, Tennessee, three years younger than his sister and six years younger than his brother. At first everything seemed just fine with him. He smiled and laughed, rolled over, sat up and crawled right on time, just like his siblings. He walked three months later than they did and started talking MUCH later. Finally, at age two we took him to a psychologist who diagnosed him with Autism Spectrum Disorder.

We immediately started him in speech therapy, behavior therapy and occupational therapy. By age three he had approximately 40 words and some simple phrases that he could say. We assumed we were well on our way to having a high functioning child who would lead a nearly normal life. Then at age three or four he started to lose his words and by the time he was nine, he could no longer speak at all. None of his many doctors could explain this. He continued to grow in his ability to understand language, though, and was able to use picture cards and eventually a speech device to express his wants and needs. His gross motor skills have always been good, he is very muscular and is a VERY fast runner! He is also extremely strong. But I get ahead of myself. Let’s go back to around age 13.

Tim began to have significant motor and verbal tics. We took him to a neurologist who diagnosed him with Tourette’s Syndrome. Around this same age he was also diagnosed with Crohn’s disease after he became anemic, started eating paper and other non-food items, and had blood in his stool. Later on, at approximately age 15 or 16 he became very aggressive and since he is so strong, this was quite a problem for us as his parents and for his school staff as well. We continued to work on his behaviors with ABA, speech, and O.T.

For years, his dad and I would say that autism was the least of his worries. He had been to a geneticist at age 3, who tested him for Fragile X disorder. The results were negative so we just assumed his genes were fine. As he kept losing skills and becoming increasingly aggressive, we decided to take him to another geneticist at Children’s Hospital in Denver, Colorado. (by this time, we had moved to Colorado) She mentioned that he could have Childhood Disintegrative Disorder. In his middle school years, Tim had two separate overnight EEGs to rule out seizure activity. This was because he would sometimes, suddenly burst out into a full-fledged tantrum for no apparent reason. No seizures were ever detected.

Finally, at around age 18 she ordered bloodwork for Exome testing for Tim, and both of us parents. The results showed that his dad and I are completely normal, but that Tim has a deletion on the GRIA2 gene, a “spelling error,” as she put it. It also showed an abnormality of the GRIA1 gene, but the geneticist believes all of his problems are the result of the GRIA2 gene. Soon after this finding we sent all of our blood to London for a study being conducted by the University of London Hospital. A paper was published and Tim, along with the approximately 20 other children in the study cohort, were given the official diagnosis of GRIA2-Related Neurodevelopmental Disorder.

This summary of Tim’s early life leaves out MANY additional therapies and specialists he saw and tried, but these are the most important ones, in my opinion.

Tim is now 21 years old, very healthy and his Crohn’s is in remission. When he is stressed his tics can still be a problem, as can aggressive behaviors, though these seem to be improving with age and increased communication ability. He also frequently breaks items in his environment (a bull in a china shop is a great way to describe him). He has a day program that he attends five days per week and will soon be training to work on a therapeutic farm a few hours per week. He loves to eat, go for walks and rides in a “stroller,” jump on his trampoline, listen to music, watch movies, sit in the steamy shower, go for rides to the mountains, and play outdoors at parks. I would say that overall, Tim is a happy young adult, and isn’t that the main thing a parent wishes for her child?