On June 10th I noticed Cora nodding her head in a weird way. She did it about 6 times. Kris and I chalked it up to her being the sweet little weirdo she is and left it at that. However I saw them again two days later. I filmed them and called the doctor and they told me to monitor it and bring it up at her Well Child Check (WCC) appt the next week. They increased, and I called back. She had 4 episodes of any where between 2 and 30 "nods". They got us an appt with the doctor on call. I showed her the video; she told us not to worry but that she would refer us to a Pediatric Neurologist. By the time Monday rolled around I was a wreck. I called her primary care physician crying, saying that Thursday (her original WCC time) was too far away. They got me in that day. Dr Mason reviewed the tape and said not to worry, Cora was developing just fine. She has reached all of her milestones and is a very happy baby. He did however get us an appt at the Pediatric Neurologist for an EEG on Monday the 23rd. Although he tried to reassure us, Kris and I left feeling full of dread. That feeling only worsened as the day went on and by the next morning we were both a complete mess. I called the EEG dept and begged for a sooner appt. They got us in that day.
I know I sound like the worst sort of patient (or mother of a patient) constantly calling and making them see her sooner, but it was the only thing I felt I could influence. I couldn't change the outcome but I could try to control how quickly it was addressed. Not knowing what was going on was almost the worst part. The EEG was less than fun. No one should have to see their baby with wires bandaged to her head. However it is a painless procedure and she fell asleep as soon as everything was in place. We got the call the next day. I feel so bad for doctors when they have to share bad news. Cora had been diagnosed with Infantile Spasms, a rare and serious form of epilepsy. Although we were expecting it, it felt like I got hit by a truck. Poor Dr Mason had to try to tell me what to do next through my sobs. I don't remember anything he said besides we needed to start a drug called ACTH. I immediately called Kris and he came home from work. I called my aunt DeAnne and my mom. My mom caught the next flight of the island.
What happened afterwards was a blur of calls from insurance companies, looking things up on the internet, learning about drug treatment and of course crying. The next day we received a call from the company that was ordering the ACTH for us. They informed us that the cost of the drug with our insurance was going to be 29,000$, yes that is 3 zeros. Any composure I had left was gone. We were talking about filing bankruptcy or selling our house. It had been 9 days since I saw that first head nod and now our lives were unrecognizable. Well jumped on the phones. I called Tom (Kris' and my previous boss) to see if I could get back on the insurance that he has at his company in hopes that their Rx plan was better. We called everyone, Dr Mason, the neurologist (Dr Metrick), and the company that was robbing us blind. When we got no answer from anyone, we showed up at Dr Metrick's office. There was no time to sit around and wait for them to call us, we needed action NOW! There are other drug options out there, one in particular we were interested in and we wanted to know our options. Dr Metrick was not in but her nurse was. She wrote down all of our concerns and called us that evening saying that Dr Metrick wanted to meet with us the following morning.
Friday morning we arrived at Dr Metrick's office. She is a very sweet lady with a very hard job. She looked Cora over and asked if she had any birthmarks. I pointed out her white one. Apparently this, coupled with the IS is a symptom of Tuberous Sclerosis Complex (TSC). She asked if either of us had them and I told her I did although it had blended in now which means it is possible that I am a carrier for the mutated gene. Many people live with TSC and never know they have it. Especially if they, like Cora, have no developmental delays. If she didn't have spasms we would have no idea. We set up and MRI for Monday to confirm. The good news in all of this is the drug we were interested in, Vigabatrin, is the first choice for IS caused by TSC. It isn't approved in the US because it can cause some field vision loss but every other country always uses it first. It isn't a steroid so it is safer and we can easily get it from Canada. Oh and it is like 1.50$ a pill. Much better.
Her MRI went great. She only needed a little gas. They had to stick our pudgy girl a few times to get a good vein for the contrast portion of the MRI but all in all she came out sleepy and unfazed. We got a call from Dr Metrick's nurse, Jennifer, first thing Tuesday morning. She told us that her MRI came back perfectly normal. I was in shock. I had totally wrapped my head around the TSC diagnosis as devastating as it was. She told me Dr Metrick would call later to discuss meds. When she did call she seemed as shocked as I was. She said this was very good news and although we can't rule out TSC 100% the MRI was very encouraging. Most babies that are having seizures caused by TSC already have lesions in their brains. We do still need to get her eyes checked since lesions can show up there and it is an easy benign test to do.
We have decided to start her on Topamax, an anti-seizure medication. There really isn't a "good choice" when it comes to medication - they all have risks and side effects that are undesirable but this is a place for us to start.
We are confident that Cora is going to do marvelously. She has a huge support system and parents that are willing to do anything for her. She is such a sweet girl and we are so happy that she is seemingly unfazed by this all.
