Emerson is a fun and busy little 2 and half year old boy with a ferocious appetite.  Emerson was born healthy on his due date and had no noticeable issues until his 4-month checkup. His pediatrician was concerned he was not meeting some milestones.  At his 6-month checkup he still had not made progress and was not babbling, grabbing objects or sitting up without support.  By 9 months, it was noticeable that he was now not able to make consonant sounds, sit unsupported, or crawl, amongst other delays.  His pediatrician referred us to an early intervention program where he started therapy services at 10-months old.  At this point we began subjecting him to a slew of blood tests to try and determine what was causing these delays.  He endured a number of normal panel and special blood tests for hormones and enzymes as well as an MRI and constant specialist’s appointments, to no avail.  All of his tests were normal; there was no explanation as to why he was not meeting his milestones.

On September 16, 2019 we were in Texas for a family funeral when Emerson had a 5-6 minute seizure.  We called an ambulance which took us to the Children’s Hospital in Dallas.  There my husband and I waited in the freezing COLD ER for 8-9 hours before Emerson was seen.  Again, many more blood tests and a CT scan were run with no answers as to why he had a seizure.  After explaining our story to about 10 different paramedics/nurses/doctors, not sleeping and witnessing the most horrific thing in my life, I told the last doctors that they would have to read his chart to find out what happened on their own.  I was DONE!!  We were finally released, feeling traumatized and completely defeated, we returned home to start a new wave of appointments with doctors. 

After speaking with his neurologist, she scheduled an EEG within the coming weeks.  After his EEG, he was diagnosed with generalized epilepsy.  I was somewhat astounded that the doctor did not call me to give me the results and, of course the poor lady on the other line was not equipped to answer any of my questions.  After going back and forth over several days of returning phone calls, the doctor recommended that he start an anti-epileptic drug: Keppra.  I was lost, trying to do the right thing for my child, so I decided to start him on this AED.  Soon after I scheduled another appointment with his neurologist, who referred me to a geneticist at the University Hospital; hoping he could observe Emerson to see if he had any traits that could be genetically related.

After meeting with the geneticist many months later, he could not see anything abnormal with Emerson that pointed to an obvious genetically-linked condition.  He suggested we send Emerson’s DNA to a company called Invitae, as they were offering a genetic testing panel for over 100 genes that had been previously associated with epilepsy.  We received the saliva kit in the mail, after some manipulation with a buccal swab and water, I was able to fill the tube with his saliva!  We waited patiently for a couple of months, not too bad huh!  At the end of March 2020, the results of the genetic panel were sent to the geneticist who called me and told me that there were no real findings, but that there was a mutation that was detected in the GRIN2A gene that was deemed of uncertain significance.  I proceeded to ask him what was known about this genetic mutation and he said ‘well, we really don’t know much about it and to call back in a year and see if they more by then’… Really?  Well, being a scientist, I obviously could not just take him at his word.  I started a never ending search for GRIN2A.  I contacted every author who had published on GRIN2A I could find an email for, just to try and find someone who could help me get some answers.  I received a response from a few, one being Dr. Traynelis at Emory University.  It was then that I learned of CFERV and functional testing. 

Fast-forward to September of 2020, during the COVID-19 pandemic, Emerson learned to walk on his own just after his second birthday.  This was a HUGE milestone!  Although he still does not speak any words, he is starting to be able to listen and follow simple commands and will cuddle with us for just a few seconds!  Cuddles have never been Emerson’s thing, but he is definitely learning to interact and show signs of connecting with his family.  He continues to suffer from atonic and myoclonic seizures 10-20 times a day, but he is a trooper and I know will continue to fight and work hard to learn new things.  He loves to play roughhouse with his dad and older brothers, who absolutely adore him.  Although we don’t know what the future holds, we pray every day for a bright future for Emerson and know that anything can happen if we continue to put our faith in God.