It's been a while since I wrote anything and since Emi is six months old today, it felt like a good time to write a little bit about what's been going on. Going back to January, we had a bit of a hiccup with our move (we ended up moving out of our new apartment after two weeks because the previous tenant was a heavy smoker) but we were able to find one we loved even more and Chris is enjoying his new job. Things at Apple are extremely secretive so unfortunately, I don't get to hear about the interesting things he's working on but I'm sure it's awesome. We finally bought a car and as much as I wanted to be that cool city person without a car, it's made our life so much easier in this area. On a more serious note, Emi has been having severe health problems that have taken the majority of our time and attention the past few months. Other than to family and some friends, we haven't been very open about it, mostly because I just don't know what to say. It's been a very emotional and difficult few months and this doesn't even really begin to describe it, but here is what's been going on.
A couple days before we moved back in January, Emi started having some abnormal movements a couple times a day that looked really alarming. We took a video of it happening and visited the pediatrician. She was concerned so she put in an urgent referral so that we could see a specialist as soon as possible and also recommended that we get an EEG (a diagnostic test that measures electrical activity in the brain). Even though we felt like "urgent" meant next day, things move a little differently in the medical world so we weren't able to get in until a few weeks later (which, looking back, was very quick and I'm grateful we had the referral). We did the EEG test and then waited to visit a pediatric neurologist to discuss the results.
Since we didn't have a car and the doctor was in downtown San Francisco, Chris took the day off and we rented a car to go together. At the appointment we were told that since Emi didn't have an "episode" during the EEG, the results were inconclusive but that there were some red flags that indicated seizure activity. The doctor said they needed more information so we were told we needed to go to the hospital right away so she could be video monitored for a 24 hour EEG. The neurologist said that she didn't know how long we would be in the hospital but that depending on the tests they might need to do, we could be there for a few days or maybe even a week.
The suddenness and seriousness of it scared us but after the appointment, we got lunch and then went straight to the hospital and got checked in. Chris called his supervisor to let him know what was going on and even though it was only his second week on the job, they told him not worry about anything and focus on his family (this was one of the biggest blessings and one that I will forever be grateful for). This was on a Wednesday at the start of February. The following four days were filled with monitoring, waiting, tests, waiting, discussions with the pediatric and neurology teams, waiting, blood work, waiting, feeling anxious, kind nurses and weird nurses, and waiting. After the 24 hour EEG, results showed that Emi was, as suspected, having seizures and we were told that she had pediatric epilepsy. However, the term epilepsy only means that you have abnormal wave patterns on an EEG and that you've had at least one seizure. So the cause remained unknown. We left the hospital on Saturday with no official diagnosis and medicine to try to stop the seizures.
We spent the next month and a half waiting for test results, trying new medications, and going to various appointments. It was mostly an emotionally draining waiting period, filled with disappointment that the seizures hadn't stopped (she usually has one or two a day) and hope that we would find out the best way to help our baby girl. Results for two (MRI and lumbar puncture) of the three tests came back clear so that left the genetics test.
A few weeks ago, we got a call to come in and meet with our neurologist and the genetic counselor. We had a strong feeling that the results weren't going to be good. Genetics are complicated but to put it simply, there were four genes that they were concerned about, but specifically one that was associated with a disorder. All of Emi's symptoms matched the disorder's symptoms exactly. They needed to test both mine and Chris' genetics to know for sure, but it seemed likely that this genetic disorder was the cause of her seizures. The spectrum for the disorder is wide and the list of potential symptoms is long and scary but essentially, if she had it, there would be developmental delay, learning differences, and a myriad of health problems. That same day, we had an appointment with an eye doctor and found out that she has vision impairment (to what extent, we don't know). To say that we were devastated would be an understatement. That day and the days following were some of the hardest I have ever experienced. We didn't "officially" know yet but both Chris and I felt like this was the cause of her seizures. And unfortunately, we were right. After a few weeks of waiting for the blood work results, they finally came and we got an official diagnosis last week.
Emi has CDKL5 Disorder, a rare genetic disorder that has only recently been identified. We don't know where Emi will be on the spectrum, but since this disorder is characterized by developmental delay, it's very likely that she'll be different than a typical child. There is no cure and the treatment associated with it treats seizures and encourages a variety of therapies (physical, occupational, speech, etc). We don't know much about it yet but our doctors showed us
this website.
We're relieved to finally have a diagnosis, but it's clear that we have a long journey ahead of us. Even though it felt like we had to wait a long time, we feel lucky to have found out so soon. We're still trying to stop her seizures completely but finding the right combination of medications and dosage is taking a while. Thankfully, the doctors at Stanford are taking good care of us and we're really grateful it's such a quick drive away (I almost feel like we know Palo Alto better than where we live). Some days are harder than others, but Chris and I are doing okay. We like exploring our new city together and trying new restaurants (we've found some good ones!). We're slowly putting our apartment together and turning it into a home. We spend time with friends and try to go outside as much as we can. A bunch of people even came to visit us this past week!
We have so much to be grateful for despite our challenges. People from our church have been incredible and offered so much help. Many people have kept Emi in their prayers and asked after her. Most of all, we're grateful for Emi. She is the most patient baby and has been a champion throughout all of this. She sleeps through the night, smiles after a lot of effort from her parents, and rewards us with giggles once in a while. She's got chubby rolls and two cute teeth that popped through last week. Since day one, we have felt like she is the perfect baby for us and none of this changes that. We really can't imagine life without her.
