Life with a Rare Child: The Journey Beyond the Syngap Diagnosis – Reflection & Parent Survey Invitation

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Kali Worth is a long-time Volunteer with the SynGAP Research Fund.

You get the call. Your child has a SYNGAP1 mutation. Speaking from my personal experience, you begin to spiral.  

I had been saying for months: “I’m sure Kailyn has a rare genetic syndrome and we just don’t know it yet.” A part of me was in denial which presented more like hope—thinking if we could just get her epilepsy under control, she’d begin to develop at a more typical rate and possibly even catch up to her peers. In reality there is no way a young child and developing brain could function or learn having upwards of 200 epileptic events daily. Then we got the call, and everything stopped. Several weeks after collecting samples for a full exome sequence, the neurologist called. I was on my way in to pick up Kai from her developmental preschool.

As I was trying to make sense of what the doctor was saying on the phone, I vividly remember being unable to process anything else that was going on around me. Again, I was already convinced her condition was genetic in nature, and it was only a matter of time until it was identified. Despite this, I was in a state of shock. It was a Friday and my husband Lj was out for a game of golf and an evening with friends. As so many of you know, It’s a rarity for either of us to slip away with two young kids, especially since one can have some pretty challenging behaviors.

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So, after putting the kids to bed, I was alone with my thoughts… and Google. I began to read all the published research that studied SYNGAP1 and SynGAP-related encephalopathy. I seesawed between reading Methods, Results, Discussions, and sobbing uncontrollably. Although my husband and I were aware that Kai was different and had challenges, this was the confirmation. I had to mourn what I thought life would look like for Kai and the changes that would mean for our lives as well. The grief of that weekend came in cycles. Thankful for my almost nauseatingly optimistic husband, I was (and am) wrapped in a blanket of comfort when needed. We put our heads and hearts together and did what we always do: face it head on.

Sometime in those first days after diagnosis, I took to social media for information and support as well. I joined every group with “Syngap” in the name on Facebook. I started getting friend requests and private messages from other parents of Syngapians. A few of those folks were Mike, Peter, and Virginie. Virginie offered to speak with me on the phone and I excitedly accepted the invitation. I think she and I spoke on the phone for nearly two hours. It was incredible to speak with a parent who had been in my shoes—having a fresh Syngap diagnosis.

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It was fascinating to compare notes on our kiddos’ symptoms and realize the shocking similarities. I felt right at home. And…cue relief: relief that we knew where to place Kai’s collection of symptoms; relief that we had support from families experiencing so many of the same challenges.

Fast forward a few months. The COVID pandemic is upon us. Day in and day out, we are caring for a special needs child, trying to work, trying to fulfill school requirements remotely, trying to facilitate tele-therapy appointments, and maintain our sanity. I think we can all relate.  As Richard Engel observed this week “Having a special needs child was difficult before COVID. Now it’s dangerous for the children and for the mental health of the parents.”  He’s right.

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Late one night, I start to think about my mortality, and then it hit me. We have this kid that will have lifelong needs. We need to plan for her: financially, medically, and for around the clock care in our absence. Again, I turned to my trusty friend, Google. I began to research long-term planning for a special needs child.  My research got me thinking, I wish there was a roadmap that would give some kind of to-do list and timeline for addressing these needs.  What can or should I do now (or when) to accommodate Kai’s needs over the span of her life? My thoughts continued and I questioned, how can I ensure she’s taken care of, regardless of circumstance? Through this, I decided that as a community we need to compile and share resources so that newly diagnosed parents won’t experience the same online rabbit hole that I did. Reminder: Googling a stressful topic at night is never a good idea; especially when you have a SynGAPian that suffers with sleep dysfunction and will be up at the crack of dawn.

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Perhaps your baby or toddler is newly diagnosed, and long-term planning has yet to even cross your mind. Maybe your Syngapian is a young adult and you have lots of knowledge you would like to share  regarding the transitions you’ve experienced. Please take this survey and share with us what you already know and what you feel you need to learn more about. With the data collected from your responses, we will put together a series of articles to tackle these big topics and create a  roadmap for long-term planning with a Syngapian. If there is a topic mentioned within the survey that you feel you have a great grasp on and would like to help out, please send me an email. [Please note: original survey is no longer available; however, your thoughts are always welcome! Please email kali@curesyngap1.org.]

We will walk through this together!

Thank you,

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