faces-ryderAfter a problem-free pregnancy, Ryder was born about two weeks early on November 26, 2010. Everything went well during delivery, and our seemingly very healthy baby boy tipped the scales at 7 lbs 4 oz. He passed all of his newborn screenings and was sent home with us two days after delivery. Everything was perfect… By seven months old, Ryder was developing normally and we didn’t have any reason to believe that something was different about him. At the end of his seventh month, however, he started a new “trick” of flickering his eyes to one side and then laughing about it. I noticed this on a Monday and by Thursday, after I’d seen this happen three times while he was lying in my lap, I called the pediatrician. I took him in right away, and of course he didn’t “perform” for the doctor, but our really fabulous pediatrician decided to send him for an EEG “just in case.” Following an EEG the next day, we were called and told that Ryder’s EEG was very abnormal and we needed to go to the ER of the Children’s hospital roughly four hours away. We were told by the on-call neurologist that Ryder’s EEG showed hypsarrhythmia, a tell-tell sign of Infantile Spasms. While the word “spasms” doesn’t sound so bad, upon researching it, I learned it is actually one of the “catastrophic childhood epilepsies” because of its seriously detrimental effects on the developing brain. Little did I know that every time Ryder’s eyes would flicker, he was actually having aseizure. We started treatment with a steroid called ACTH while in the hospital and continued with the injections for several weeks once we returned home. While in the hospital, one neurologist issued a genetics test because we honestly had no idea what could have caused Ryder to have Infantile Spasms. Though we didn’t expect anything abnormal to show up, we went along with the test. Over the next couple months, we battled seizures and abnormal EEG’s, high blood pressure and ridiculous weight gain from the steroid. By September, Ryder’s seizures had stopped and we were headed back to the hospital for another EEG to check on his progress. At this point, Ryder was 10 months old and was sitting up alone and trying to stand alone. He played normally and was by all accounts, very “typical” aside from being a few months behind due to the seizures. This is why we were totally flabbergasted when the neurologist said, “We have an issue with the genetics report.” Having been a biology teacher and knowing quite a bit about genetic mutations, I was terrified to hear what he was about to say. He handed me an article entitled “Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment” and said that Ryder had a FoxG1 duplication. I was so confused because while I am trying to read that my child is mentally retarded, he is jumping up and down and squealing in his Daddy’s lap. My husband was dumbstruck and I could see it all over his face. He asked the neurologist if Ryder would ever be able to do things like go to college, and the doctor’s reply was, “Children like this don’t go to college.” I asked if Ryder would regress and become a shell of himself, and this doctor told me that he would and to prepare for Ryder to “lose himself.” At this point, I know I should have been devastated and hung my head and cried, but I didn’t. I told that doctor “Thanks for your time” and I was researching this FoxG1 gene on my iPhone like a madwoman by the time we ever got to the car. Long story short, I read EVERY single journal article in the Journal of Neurology regarding FoxG1. I emailed professors doing research on FoxG1. I contacted geneticists. I read and read and read until my eyes nearly bled. I was possessed. It didn’t take me long to discover that the neurologist NEVER should have told us what he did regarding the duplication of FoxG1. As it turns out, FoxG1 is a gene that aides in the development of the brain, so a deletion of this gene causes a variant of Rett’s Syndrome. However, a duplication of this gene can have varying degrees of severity. At one point, we met with a genetics counselor and a geneticist at Vanderbilt. The counselor once again tried to tell me that Ryder had Rett’s Syndrome, so I had to whip out all of my paperwork and explain to her why he did not. When the geneticist walked in, I pounced on him at once and said, “She’s trying to tell me my child has Rett’s, so please inform her that he does not.” He did… I must add at this point that had I discovered Ryder did in fact have all of these classic symptoms of Rett’s Syndrome, I would have accepted it because I love my son no matter his genetic make-up. I could not, however, have one more person tell me that he was going to regress when I couldn’t find a single bit of proof in the literature that this would occur and I could see with my own eyes that he was developing every day- not regressing! Over the next year, we tried various medications for seizures because they kept coming back. It was a very long and trying time that I won’t even take time to go into detail on… After trying several other neurologists, I found one online that had treated a girl with a FoxG1 duplication that had Infantile Spasms. He emailed me back rather quickly, and within a short amount of time, we were headed toLeBonheur in Memphis. This doctor, God bless him, eventually decided to try Ryder on a second round of ACTH. It was not a fun experience, but it worked, and Ryder’s last EEG was 100% normal! He has been medication free since May 2012. Ryder is now two years old, and he walks, runs, climbs on everything, and acts very much like a typical two year old. He has several words including Mama, Daddy, Nana, dog, bath, get set- go!, uh-oh, bye bye, and hello. He is behind by a few months in speech, but he goes to therapy every other week and we see progress daily. In the midst of all the chaos, I posted on Circle of Moms regarding the FoxG1 duplication and surprisingly, there were two other Moms out there that had posted that their children had FoxG1 mutations! Before long, more and more parents showed up so the Facebook page was created and then the International FoxG1 Foundation was formed! I am very proud to be part of a group of such determined Moms and Dads! In all of my research of FoxG1, I have yet to find another child like Ryder. It is my greatest desire that his story gets out there and brings hope to some of those parents that find themselves in the same boat we were in back in September 2011. He is truly our little hero!!