Because James was diagnosed with infantile spasms, a type of epilepsy in infants, I found this news article interesting:
Researchers at the University of South Australia found that a genetic mutation on chromosome 16 appears to be the cause of epilepsy in infants. They’ve known that the mutation responsible was in chromosome 16 for the past 15 years, but now they know the exact gene within that chromosome. Now that they’ve pinned it down to the exact gene, they hope that they can develop better screening and diagnosis for infantile epilepsy.
Perhaps if this had been discovered years ago, James might have been diagnosed a lot sooner, started treatment sooner, and he wouldn’t still be suffering from this disorder. James was officially diagnosed with infantile spasms on February 11, 2010. The spasms actually started two months before the diagnosis, in December of 2009. We didn’t know what they were at the time; the GI doctor (gastroenterologist) thought that it was reflux and started treating him for that; and it took multiple EEGs for the neurologist to finally confirm that they were infantile spasms. If you want to read more about James’ diagnosis, and what he (and we) went through before the diagnosis, check out the James Has Infantile Spasms post.
James did have some genetic testing done while he was in the NICU because we had lost our previous son to Trisomy 18 before he was born. Now I am wondering if they had found the genetic mutation that causes epilepsy in infants sooner, and there was some sort of screening available, if the genetic testing that was done on James would have revealed that he was at risk for infantile spasms, and we could have gotten the diagnosis sooner, and not have had to wait two months. Unfortunately, we will never know, but hopefully they will be able to develop some sort of test to look for this specific gene mutation and other parents and kids won’t have to wait months like we did before they get an official diagnosis.
