It all started with the nipples. I was a new mom a few days after Myron was born standing in the doctor’s office wide eyed and sleep deprived when the doctor told me Myron had inverted nipples. I giggled and shrugged because who really cares if boys have inverted nipples anyways...I mean why do boys even have them in the first place?! Little did I know it would be the first of many doctor visits where I would be told things were not quite typical in the world of Myron.
Myron was never an easy baby. He was extremely fussy and very particular from day one. I remember having to explain to people exactly how he was to be held or moved around. Family members shied away from really engaging with him out of fear of making him upset. He had all the horrible baby rashes, a milk and soy allergy and even developed one of the most disgusting and rare infant cases of Black tongue… don’t google it! I mean it! It it is gross and I have no clue how Myron could possibly have such a thing at a few weeks old(to this day I have to argue with the doctors to look in his chart when they don’t believe me that this really happened). But that is Myron for you. If the statistics say only one in a million, make no mistake Myron will be the "one".
At about eleven months old Myron started trying to crawl. But it was weird. There was something about the way he moved even at that young age that didn’t seem right to me. I would be rocking him to sleep in his high chair googling things about dragging one leg and weak muscles. I already was ending up on neurological disease pages. The doctor diagnosed him with hypotonia at his next check up and I was told he probably just would never be the star athlete. I was secretly excited that my son and I would be having brainiac parties in the near future. In retrospect, even though I didn’t have anything greater to point my fingers at, the mom instinct started kicking in. However, everyone kept reassuring me he was a slow goer and would catch up.
At around the time of Myron’s first birthday Myron developed a fever and started acting strange. He fell abruptly and began having extremely short shuddering type of convulsions. When I first called the pediatrician on call she told me that he probably was just having the chills. I got off the phone with her, looked down at my shuddering son and knew something was not right with him (here is an example of Myron's febrile seizures). By the time I frantically called my husband telling him what was going on Myron was out of it and convulsing every few minutes. I will never forget the feeling I had running my limp unresponsive one year old into the emergency room. I have never felt a fear like that in my entire life. At first, the doctors were weary of calling it anything since they didn’t look how a typical seizure looks. But it was clear there was something wrong. The unresponsive fatigue that Myron still gets during these episodes is bone chilling.The Dr.’s consulted Rady's neurologists and came back to me with a diagnosis of complex febrile seizure. They explained to me the difference between complex and simple febrile seizures and told me he could have them again. They then adamantly stated that they are harmless . Once his fever went down he seemed back to normal so we took him home. Based on the Dr’s explanation I laid to rest my concerns about these episodes he continued to have for almost a year.
Meanwhile, Myron was starting to be red flagged for some serious developmental delays. When Myron turned one year old I realized he never once had made a consonant sound in babble. When he made any noise besides crying it was a harmonious collection of "ahhhhh....ahhhhhhhh...ahhhhhhhh!." (here is an example of Myron's babbling) He was also nowhere near walking. Honestly, Myron was extremely clumsy and abnormally wobbly. At his next checkup our pediatrician referred him immediately to the Inland Regional Center for an early start program to be assessed more fully and to start therapies for early intervention. At this point the word Autism had never even crossed my mind. It wasn’t until the evaluation for services that I first had someone share it as a possibility. It was during that same visit when I experienced my first look of pity from a medical professional . They told me my now 18 month old had language and cognition of a 4 month old. That his gross and fine motor skills landed around 7 months and that he needed to be in an aggressive program to have any hope of normalcy. They told me they were very concerned about Myron
Fast forward six months and Myron turned 2. He was walking but constantly falling. He had been doing intensive in home therapy for six months and was still not saying a single word. He had had 3 or 4 more episodes of febrile seizures at this point. Shortly after his second birthday, I was 35 weeks pregnant with my daughter, putting groceries away with Myron playing at my feet when he suddenly fell. It is hard to describe the difference between a clumsy fall and one where the muscles have purely given out, but I knew that it wasn’t a normal fall. I quickly grabbed him and he was in a deep sleep in my arms in seconds. That’s when I knew it was another episode of seizures. I laid him down next to me and stared at him for the next hour. I kept thinking how I was told not to worry about these seizures and just to help him get his fever down. I took his temperature to make sure he had one. He did. I gave him the medicine and waited and nothing. His fever wouldn’t go down and he was still having seizures. I called the pediatrician and she instructed me to go to the ER. I was honestly confused at this point because after all they had been so reassuring and had convinced me these seizures were not harmful. However, the ER turned out to be the right decision.. Myron’s quantity of seizures for that day were now in the thirties so they sent us immediately by ambulance to Rady’s in San Diego.
The following week at Rady’s held so much.. So many feelings, so much confusion and so many tests. I will go into the details in future blog posts, but we left Rady’s with more knowledge and what we thought was a better plan for the future. Myron had an MRI that showed a lesion on his temporal lobe, but they were not concerned about it. The pediatric neurologists once again confirmed that the seizures were febrile, not harmful. At this point there attitude did not seem worrisome to me. The neurologists were actually most concerned about the developmental delay so they suggested an EEG. We scheduled it for the next month, and I prayed and prayed that I wouldn’t go into labor before then.
At 38 weeks pregnant I wobbled my two year old into Rady’s once again for a sleep deprived EEG. Despite the fact that the EEG itself was horrific for Myron(think all his most hated sensory inputs), I was not worried at all. In the hospital the doctors had told me that it is not really more likely for him even with a history of complex febrile seizures to develop epilepsy than the average person. We were told that the EEG would most likely come back normal. So that is what I expected. It didn’t. A few weeks and a new baby later we found out Myron had an abnormal EEG characterized by Epileptiform spikes and generalized brain wave slowing.
Meanwhile, Myron started developing a tremor. Of all the issues, Myron’s tremor is most alarming to me. I had never seen or heard of any kid shaking like that before (here is an example of Myron's tremors). As Myron’s follow up neurology appointment approached, the tremor seemed to worsen along with my anxiety over it. When we finally got to our appointment the doctors reviewed the tests, examined Myron, asked all the questions and then looked over at me with a look of concern. They told me how worried they were about Myron and that we needed to figure out what was going on.
The doctors describe Myron’s issue as stars in a constellation. They say that the developmental delay or the seizures, or the tremor by itself are not as worrisome but when you start putting it all together they see a picture forming of a bigger issue They told me that we would be running a huge array of testing to rule out all the horrible causes of tremors. They instructed me to immediately start him on the anti-seizure meds even though he had not had a seizure without a fever that I was aware of(I am now convinced that he had been having seizures for a long time). They were so sure that he would be having a seizure at some point they told me that based on their calculations of statistics in research he had over an 85% likelihood of epilepsy developing. This was such a different tune than we had been hearing before. They referred me to the audiologist, the speech pathologist and the occupational therapist. I left the appointment with a long list of to-do’s and a lot of worry.
My husband and I had been discussing and going back and forth with the doctor about the idea of putting Myron on the anti-epileptic drugs. Honestly, we were confused because every doctor we had talked to had been so adamant about the seizures not being harmful and we didn't quite understand what changed. The decision was made for us a few weeks later when Myron had his first unprovoked seizure. Since the appointment I had been doing a ton of research and had studied and watched videos of all the different kinds of seizures there are. I had seen and read about complex partial seizures. So when I was in target and Myron went unresponsive and started lip smacking I knew what was happening. This meant another trip to the ER, a large dose of anti-epileptic meds to jump start his system and a new routine of daily medicine.
At the same time we began all the medical to-dos. Myron underwent a litany of blood tests including three genetic testing draws(chromosomal microarray. Fragile X, and an epilepsy panel). As of today only one has resulted in any abnormality. The epilepsy panel came back with a mutation on the SERPINI1 gene. This gene mutation is considered one of variant of unknown significance. Basically they believe it has something to do with epilepsy(after all it was on the epilepsy panel), but it is unknown if it is a contributor to Myron’s issues. Next we went in for his speech evaluation where he was diagnosed with a severe receptive and expressive language delay. The pathologist then strongly recommended we take Myron to a developmental evaluation with the psychologist. I agreed and took him in the next month. Here Myron was diagnosed with ASD(Autism Spectrum Disorder). She told me he would be considered moderate in terms of severity and recommended even more therapies.
Since then Myron has had multiple seizures despite the medicine. The doctor has been upping his dosage hoping we can halt them. We are all still concerned about Myron and after developing recurring eye roll episodes(here is an example of Myron's eye rolling episodes) and getting back the gene mutation result the doctor asked that we bring him in for a Video EEG. We will be staying in the hospital at the end of this month for that and will update everyone with the results.
Right now Myron loves trains, water and movies. He is OBSESSED with salsa and wants to put it on all his food. He would stay outside all day everyday running around and pouring water from cup to cup. He has great days when I feel like I made this all up in my head and he has hard days when I feel like I cannot connect with him at all. Sometimes the screaming won't stop and I feel like we are getting nowhere. And other times I think there is no way he will be able to do something and then he outsmarts us all and does it in true Myron style.
We have nicknamed Myron the "One." The "one" in 68 with autism, the"one" in 100 with complex febrile seizures, and the"one" in 50 that go on to develop epilepsy. We love our One, and if you are here you probably have a One in your life that you adore. Every day is a new adventure for us and I think we need you in our story. We have so much to learn from each other and I hope we can take on this adventure together.
