Carter's Corner

November 2021, Carter was referred to a Pediatric Neurologists to monitor his physical development.  He started PT, OT, speech therapy, and had an MRI done to make sure his brain is developing as it should. His MRI came back normal, & therapy seemed to be going well, too!    

His journey took a turn for the worse on the the night of February 6. He had his first seizure episode lasting more than 2 hours. His Mom and Dad said it was the most terrifying experience parents should never have to go through. Shortly after, doctors requested genetic testing to find answers... Carter's family knew their lives were changed forever.    

In the coming months, Carter's physical strength was declining. He stopped crawling, climbing and pulling himself up to stand. He stopped being able to successfully feed himself & he was sometimes too weak to sit up on his own.   

On May 9, Carter's family received devastating news. Genetic testing showed Carter Kim would likely never be the same. Testing revealed he has a genetic mutation leading to an extremely rare degenerative mitochondrial disease.     

Mitochondrial Disease:  A disorder that occurs when structures that produce energy for a cell malfunction.  

At that moment,  the family's thoughts were confirmed: he's a normal 2 year old stuck in a body that doesn't work.  They aggressively began applying to see specialists around the nation, and Carter's neurologist started him on a "mitochondrial cocktail" to try to improve his energy.  

With his specific disorder, all of his organs and senses can be affected. Over the next few weeks, cardiac, vision, and brain MRI testing came back normal, however, his ABR hearing test showed his hearing nerve was not working correctly.    

June 26th, Carter had another long seizure episode. While it looked a little different than the first, it still went on for a couple hours. This time, the doctors were able to make an assumption- his seizures might be triggered by normal everyday viruses that his body has to work significantly harder to fight.   

Two weeks later, on July 8th, he began having seizures again. This time, it was an ear infection that lowered his seizure threshold, and he was officially diagnosed with epilepsy.   

Carter & his parents went to see specialists in Cleveland on July 28th. Newer genetic testing didn't align with his previous genetic testing he had done, so many more questions arose.... is a mitochondrial disease actually what is causing these symptoms? While we're waiting on more extensive tests, the only thing we do know, it's definitely a rare disease of some kind. 

We will not give up the fight for our little hero... His story has only begun!