”Self Care”

This week I was listening to a podcast that I found since Yojiro was diagnosed. One of the first things we were given after the official diagnosis was a list of resources that we could begin connecting to that would help us with the journey ahead. Some resources are medically based, others are relational and connection focused. Sometimes the diversity of resources and information can become overwhelming in itself because it feels like I need to read every bit of information that exists about my child’s condition. A lot of the resources are simply to offer support and connection in the very big world that makes up rare diseases, living with them, and caring for those living with them.

This specific podcast brought up the topic of “self care”. Personally, I tend to immediately tune out when I hear these words because of the mainstream narrative that has become dominant in todays culture that labels self care as things that tend to be a little on the excessive side, in my opinion. For me, self care has equated to discipline. Discipline for myself. There is no price tag connected to self care, to me. And the podcast I was listening to reminded me of a very specific day that impacted the way I saw self care.

After having Yojiro, my intuition told me that something was wrong with him, and with that, I felt something was wrong with myself as well. I felt different than I did after having my previous three children. I felt a level of numbness that had me in a very dark place mentally for a very long time. At my six week check up after having Yojiro, my doctor diagnosed me with postpartum depression. I remember not being surprised at all. I also remember thinking, “I do not have time deal with this”, as this was right before Yojiro was initially sent to the children’s hospital on an outer island. We still had not confirmed that he was having seizures. We had no inclination of anything being wrong with him from any doctor at this point. But I felt it so heavy in my body that something was very very wrong. I would not eat, literally for days. In my mind, if my baby wasn’t eating then I wasn’t going to eat. (In the early days, weeks, and months after Yojiro was born he would struggle to eat. Which is a common issues for kids with his condition). I would not sleep because I was terrified of something bad happening to Yojiro. I was in a place mentally where I didn’t think that I deserved basic necessities. If my baby couldn’t experience peace, why should I? I felt like I should be punished because I couldn’t fix what was wrong with my son. On the extra hard days, I mentally rationalized that if I wasn’t here my husband and kids would be better off for it. I would sit awake and stare at Yojiro all night, just waiting for the sun to rise because life didn’t seem as scary in the day time, and if anything, I’d be able to call the pediatrician during the day if I felt I couldn’t handle the unknowns. Those early days leading up to the start of Yojiro’s medical journey were terrible. I had so much anxiety and fear. I felt completely helpless and unqualified for what I was dealing with daily. My inability to help or fix Yojiro’s health impacted how I saw myself and valued myself. I was failing the most important job of my life, being a mom. Up until Yojiro, motherhood had come pretty naturally to me. I always felt confident in my abilities to mother. I felt connected to my other kids after I had them. I felt like I knew their small cues when they were hungry or sleepy. I always felt like the routine was fairly easy to get into, and whatever milestones they were in, we could naturally navigate through minor challenges that I could manage with little stress or worry. But this time, with Yojiro, was very different. I felt as though I was so far out of my league that I should give up and let someone else tackle the task of caring for him.

It was about two weeks after my six week check up, at which time I was told I had postpartum depression, that Yojiro had his eight week appointment where his pediatrician identified his seizures and immediately sent us to the ER to get flown to the other island. Of course, on this day, I had not eaten breakfast and barely had any coffee, as was normal for me at this point. And who knows how much sleep I was going on this day. As soon as Yojiro’s pediatrician said “that looks like a seizure”, “we need to get him to the hospital now”, I broke down crying. I was terrified, but I was also relieved. Finally, somebody saw something alarming that matched the alarm I felt. I didn’t know the events that would unravel, I didn’t know the numerous challenges we would face or the countless unanswered questions we would have. But in that moment, I was thankful. In that moment I could breathe. Up until that day I felt like I was constantly holding my breath for the next scary unknown that I would witness and question. I was sensitive to every noise and every move that he made, analyzing it for some sort of description that I could relay to the doctor.

I spent the next twelve hours in the ER, waiting for an emergency flight transport to the children’s hospital. Due to a storm, the plane could not get to our island safely until later that night. The hours we spent in the ER were a blur. I remember sitting in a chair in the corner. I hadn’t eaten for a couple days at that point, and hadn’t drank water for hours. I was frozen in so many emotions. I answered the millions of repetitive questions that so many doctors and nurses asked of me. I felt crazy because I was repeating myself what felt like every five minutes to every next person that walked into the room. I remember at one point I could barely function. My head was pounding and I felt like I was going to collapse. During the twelve hours I spent in the ER, I realized that I could not continue living like I had been for weeks. I was so fragile, so physically and mentally drained, so emotional, so distraught, that I could barely hold myself together enough to sit in a chair. I watched my eight week old baby getting more tests done in twelve hours than some people have in a lifetime, and all I could do was cry quietly to myself in the corner of the room. It was this day that I realized that self care, for me, means that I absolutely have to eat. I have to drink water. I have to sleep. I have to get to a place where I can be the person my son needs me to be. Self care in my life means that I am preparing myself for the things I’m never ready for. That means working as much as I can when I can. Saving money for the times when I cannot work because of doctor appointments or hospitalizations with Yojiro. It means doing laundry every day instead of once a week, grocery shopping more frequently, setting routines as much as possible so that the family can have consistency and peace. It means researching Yojiro’s condition when I have the time, reading with intention instead of mindless tv shows or movies. It means making appointments weeks and months in advance so that we can get the most out of every visit. These are just examples of what self care has grown into in my life.

I have always been hesitant to use the word “balance”. Some days I truly do not feel like there can be a balance of anything in my life. When I’m at work I need to be 100% there, I need to be making the most of my time away from my family to provide for them. That means that I can’t be worrying about Yojiro or what needs to be done for him while I’m away. That also means that when I’m not at work, I need to be 100% immersed into doing as much as possible for Yojiro and the rest of the kids and family so that when I am away, I can rest assured that we are prepared for as much as possible.

Creating peace, stability, and consistency have a lot to do with self care these days. These things also have a lot to do with fostering strength, confidence, and love. Not only in myself, but in my family.

“What’s in a gene?” A diagnosis

As any parent whose child has a complicated medical condition knows, over time you try to consolidate the description of your child’s condition as simply as possible. Both for the sake of the listener, as well as to save time, since you find yourself telling this “story” over and over and over. Whether it’s for a new medical specialist being added to your child’s care team, a coworker, friend, family member, or strangers. So you hit the “bullet points”. For myself, I find myself getting pretty disconnected when I describe my son’s condition. I start describing his baseline, or I’ll start listing off the date of his diagnosis, the frequency of his seizures, the dates and durations of his hospitalizations, how frequently he has bowel movements, what his feeding is like, you get the picture. I get pretty technical in facts and neutral emotionally, in my efforts to paint a picture that is as accurate as possible, highlighting information that I know doctors will want to know. And it’s hard. It’s hard for so many reasons. It’s hard because these stories, our stories, our child’s story, are not simple. They can’t fit into a nice and concise narrative that translates well across audiences. At least that’s what I’ve felt. They are also so much more than these medically themed facts. My son is more than his diagnosis, and at the same time, getting his diagnosis was a monumental point in our lives.

We’ll never be able to know with complete certainty, but my intuition tells me now that my son, Yojiro, was having seizures in utero. His movements did not feel like my previous pregnancies with my three older children. My pregnancy was pretty uneventful. Being my fourth pregnancy, nothing seemed out of the norm. His birth, as with every child, is in itself its own experience that can’t compare to any other experience. Immediately after birth I felt something was “off”. I couldn’t put words to my feeling. And I kept finding myself comparing him to my other kids. He wasn’t born screaming. He didn’t open his eyes for about three days after birth. He didn’t cry hunger cries. He seemed sleepier than “normal”. (A term I now steer away from). He was born with a tongue tie, but that wasn’t super alarming. He passed the 24 hr tests that are done in the hospital and we were discharged without any red flags other than what I was feeling in my gut. A few days later he got his tongue tie corrected. He was having what we were told were probably “breath holding” spells that he would eventually outgrow. I was skeptical. From birth he had difficulty feeding. We were told that his tongue tie was what was most likely causing the difficulties. Again, I was skeptical. He didn’t smile for the first year of his life. He didn’t react or interact with anyone on a level that is typical for his age. The weeks that followed were a blur, as they are for most moms right after having a child. This was something different. I felt uneasy. Days and weeks passed where he wasn’t eating. He wasn’t waking up to feed. It would take me hours to get him to eat four ounces. When asked what he was struggling with when it came to eating I would describe it as, he just will not eat. It’s not that he’s not latching. It’s not that he’s choking or spitting out the bottle. He simply will not do anything with it when I put it in his mouth. The “breath holding” spells weren’t going away. He wasn’t meeting milestones even at a young age. He had low muscle tone and poor eye contact and tracking. Around eight weeks old those episodes changed in their presentation. At a pediatric appointment he had an episode and his pediatrician immediately said, “that’s a seizure”. His pediatrician immediately called for an ambulance transport to the hospital on our island. While we waiting for the ambulance I broke down in tears. I cried because I was so scared. But I also cried out of relief. Finally, I didn’t know what was about to unfold, but at least someone saw us. At least someone agreed with me that something was wrong. We spent twelve hours in the ER before Yojiro was flight lifted to another island where our State’s children’s hospital is. Many tests were started after that included spinal taps, X-rays, CT, an MRI, numerous blood tests, and countless more. I sat on a chair in the corner of the ER room silently crying. Wondering what I had done wrong for my baby to be experiencing this. All of the tests came back with no answers. By this point Yojiro had been given seizure medication that a knocked him out for the next five days. We made it to the children’s hospital on the other island late that night.

While there he had an EEG done and a few more tests. Because he was passed out, he didn’t have any seizures for that entire hospitalization which lasted five days. No seizures were detected on the EEG. Once he finally starting to wake up and eat, he was discharged and we were sent home. We weren’t given any seizure medications since he hadn’t had any for the whole time we were there. I felt very uneasy. I did not feel relief.

I felt like he only hadn’t had any seizures because of the medications given to him at the ER back on our island. But we flew home. The feeding complications continued, the low muscle tone and delayed development continued, the sleepless nights continued. And two weeks later he started having seizures again. I panicked and spent the following days waiting outside of his pediatricians office because I didn’t know what to do. I knew he had to be dehydrated. I knew he needed medications to stop his seizures. One day his pediatrician sent us to the nearest ER to get a loading dose of a common seizure medication, keppra, in hopes that it would stop the seizures until we could get other medications ordered. After about three hours in the ER the loading dose didn’t work. It had zero effect on his seizures so it was immediately stopped. He was then put on another medication that had to slowly be increased, something that is common for most if not all seizure medications. That medication controlled his seizures but it also made him so lethargic that he wouldn’t eat. In the next months we were flown to the children’s hospital again for dehydration issues but only spent a couple days in the hospital. While there, a neurologist decided to order genetic tests. But these tests would have to be mailed to us at home, and then be sent off for testing. Results took six months to get.

While we “waited” for the genetic testing to come back, everything else was not waiting. The seizures didn’t wait. The developmental delays didn’t wait. The feeding issues didn’t wait. we began therapies with our local early intervention program, which brought on more frustrations. Pediatric appointments focused around his delays and how we could get him to catch up and meet the next milestone. In my mind I was thinking, “I don’t know what’s wrong. But I cannot force a baby to do tummy time when he’s so lethargic or agitated. I cannot force this child to eat or meet any of these milestones”. These typical milestones that parents usually give no thought to seemed like mountains we weren’t ready to climb. (This is probably meant for a post in itself). Yojiro was born in January. Fast forward to September, we finally got a diagnosis. He was diagnosed with a KCNQ2 DEE (Developmental and Epileptic Encephalopathy) related disorder. In Yojiro’s case, this was a random gene mutation. We met with a genetic counselor that spoke to us about the results. They described to us the difference between inherited and non inherited mutations. Yojiro’s variant of the gene mutation is what is called, “de novo”, or not inherited by either parent. They tried to simplify a very complicated answer and very complicated results. Although an answer, it still wasn’t black and white. The pages of the genetic report looked like a code that needed to be deciphered. On that report was the specific variant, with results that read “pathogenic”, or disease causing. “Variants” were a sequence of letters and numbers that translated to more complexities. The variant that Yojiro has is, c. 1689C>A (p.Asp563Glu). His genetic report gives a breakdown of his variant that reads,

“This sequence change replaces aspartic acid, which is acidic polar, with glutamic acid, which is acidic and polar, at codon 563 of the KCNQ2 protein (p.Asp563Glu). This variant is not present in databases; the missense change has been observed in individual(s) with clinical features of KCNQ2-related conditions. In at least one individual the variant was observed to be de novo. An algorithm developed to predict the effect of missense early changes on protein structures and function (Poly-Phen 2), suggests that this variant is likely to be disruptive. This variant disrupts the p.Asp563 amino acid residue in KCNQ2. Other variant(s) that disrupt this residue have been determined to be pathogenic. This suggests that the residue is clinically significant, and that variants that disrupt this residue are like to be disease-causing. For these reasons, this variant has been classified as Pathogenic“.

The diagnosis was extremely complicated, and the list of treatments and specialists needed were just as complicated and posed more questions than it gave answers. The genetic counselors continued to help set us on a track to navigating this diagnosis and identifying what specialists and treatments were available and where we could begin to find resources. Shortly after, my husband and I joined a an online parent group for kids with this genetic mutation of KCNQ2.

As soon as we got his diagnosis, it’s like the focus and goals changed for the pediatrician and the therapies. It was no longer about getting him to meet certain milestones, and more so about meeting him where he is at in a way that can support him to develop at his own pace with as much help and support as possible. His neurologist continued to adjust and change medications. By this point Yojiro was on two medications but was about to be weened off of one because of concerns about long term side effects. When we began to ween him off of that medication I was so worried, but I knew that it needed to be done. During the process of weening him off of the medication, he began to get very agitated and irritable. It got to a point where he would scream all day and all night. He was very rigid and tense. He would not sleep for more than 15 minutes at a time. Feeding during those three weeks was almost impossible, so was tummy time or any other therapy. I’d rock him, hold him, try to comfort him any and every way possible. Nothing helped. I literally did not sleep for three weeks. Finally I could not take it any longer. And if I couldn’t take it, I knew that Yojiro couldn’t take it either. He was almost weened off the medication so I called his neurologist and told him our circumstance, that I was trying to follow the plan but Yojiro and I hadn’t slept for three weeks. We needed something. Anything to help. That same day the neurologist sent in a prescription for a new medication to start. I went and picked it up at the pharmacy and started it as soon as I could. As with weening off of a medication, we had to ween him onto any new ones also. We saw immediate results in behavior and mood with just the small dose of the new medication. I was able to breathe again. I didn’t know for how long. But I was grateful for any moment of peace no matter how short.

“Mother” and Caregiver

There is no “good” place to start when it comes to talking about our lives. There aren’t distinct beginnings and endings, where the in-between cohesively unfolds in a way that can be nicely documented by timelines and significant moments.

I believe that every story deserves its full attention and demands its own space. Even then, most experiences are difficult to be translated into the confined world of words.

This evening, in a hospital room with my youngest of four kids, I will attempt to share a glimpse of a story I firmly believe needs to be shared.

As a mother, it comes with a humble understanding that there will always be room to grow. Something to learn. A responsibility that demands your life. In my life as a mother, never would I have imagined that I would become a mother of a child with a disability. I’ve learned about disabilities in many capacities through classes in college, but I had never been a caregiver to someone with any type of complicated medical condition. It wasn’t until I had my fourth child that I would come to experience a world that was always off in the distance for me. My youngest child was diagnosed with a rare genetic disorder in the beginning of 2023. The time from his birth to getting his diagnosis was about eight months. The details of his disorder will be saved for another time, along with the countless medical complications and challenges that have unfolded throughout this journey.

For now, I want to address the monumental toll that comes along with being a caregiver. My journey as a caregiver is young. I have always been skeptical of sharing my life with fear of being defined by my stories or by my weaknesses. Very recently have I come to realize that I have too many downfalls, too many weaknesses, too many stories that make up my life, to be defined by any single one.

Journaling has been a part of my life since I was young. It has been a way for me to work through so many seasons of my life. Watching my young son be so strong beyond his years simply because he knows nothing else, has truly inspired me and allowed me to love on a level I never knew existed. His story is worth sharing. The people I’ve been exposed to since having him have been inspiring. The stories of other parents walking along similar journeys, has given me peace and community during times that I have felt the most alone.

I hope to share my stories, our stories, my son’s stories, so that others can see the beauty in the challenges.