We began our journey with genetics about eight months ago. In addition to sensory challenges, Max has a large birthmark on his back, a significant speech delay, a minor heart murmur and asymmetry in his chest. While none of these things would be particular concerning individually, the combination could be a sign of something greater. In an effort to determine if he is dealing with something beyond sensory processing disorder, we were encouraged to pursue genetic testing. Anxious to ensure we’re doing everything possible to get Max what he needs, we did just that. (It’s important to note that having a child with sensory processing disorder does NOT mean there is a genetic connection.)
After the initial testing came back inconclusive, they drilled down a little further to find that Max is missing a part of the AUTS2 gene. Mike and I got tested soon after to determine if this deletion is hereditary and decided that if one of us had part of the same gene missing we’d have Fletcher tested, too.
Low and behold, I am the carrier. I am missing a part of the AUTS2 gene, too. When the genetic counselor called to let me know the results were in, she assured me that this wasn’t my fault. That there would have been no way of knowing that I was missing part of this gene and could potentially pass it down to my children unless we had done extensive genetic testing prior to conception. I appreciated her sentiments, but in the midst of trying to wrap my mind around an unfamiliar topic, it honestly hadn’t occurred to me to feel guilty about this. Now, though, I do have moments. Not guilt as though this was something in my control, just fleeting moments of feeling unsettled. Fear of the unknown and a little grief, maybe?
Shortly after my test results came back we got Fletcher tested as well. As with many children with sensory challenges, Fletcher is extremely literal. He struggles with the element of surprise AND anticipation (that’s a separate post all together) so it’s always a balancing act to determine how and when to tell him about something forthcoming. Because there was a needle involved, I decided to wait to tell him until about 2 hours before we had to leave. I thought that would give his brain enough time to organize around what was happening next and what it would involve without hours upon hours of questioning and perseveration.
He does best in situations like this when he has a full understanding of the “why.” So I talked to him about how Max and I were both missing a part of one of our genes and tried explaining genes and DNA to his six-year-old self by showing him photos of gene strands from the internet. He was enthralled and asked questions that hadn’t even occurred to me. I found myself saying “that’s a great question!” And then a lot of “we’ll have to look that up, buddy” followed by “maybe that’s something we can ask the doctor.”
He was nervous, took lots of deep breaths while the phlebotomist prepared his arm for drawing blood. He paused her at one point and used a calm down strategy he learned from Daniel Tiger, told her he needed an extra minute and then finally put on his brave face and powered through. While situations like this are always a bit of a gamble, he did great. The phlebotomist giving him a little control over when she began drawing blood was key.
Afterwards, I suggested we stop at the pharmacy on our way out of the clinic. They have some great little sensory toys and I thought maybe he’d like to pick one out for being such a champ. He found something he liked and we took it to the pharmacy counter to pay for it. Phil the pharmacist politely greeted us in his starchy white coat and before I could respond Fletcher pointed to the rows of pill boxes behind Phil and blurted out “excuse me, is this where all the DNA is housed?”
Phil smiled politely, but looked confused. I explained to him that we were going through genetic testing and he gave Fletcher a sweet glance and a chuckle. Meanwhile, I was given another glimpse into how Fletcher’s brain processes information – it’s fascinating. At six he had internalized our conversation about DNA and genes and made the connection to the pharmacy. It made total sense to me as we were in a hospital setting and the pharmacy is filled with brightly colored boxes, many with logos that from a distance could be mistaken for the drawing of a gene. I could absolutely appreciate how he arrived at wondering if DNA was housed there and loved that he wasn’t shy about asking who he perceived to be an expert.
Fast forward a few weeks. We learned that Fletcher has the same deletion as Max and me. What does that mean? Well… we’re still trying to figure that out. I wasn’t sure if I should feel relieved or confused, or indifferent, but I had a lot of questions and could hardly wait to consult our genetic counselor. I heard a lot of “well there just isn’t enough known about this deletion to be able to say for sure.”
Genetic testing is a tricky process. While genes are fascinating, I would be lying if I said this process doesn’t feel daunting and all consuming at times. Mike and I find ourselves wanting immediate feedback, but the truth is, this requires patience and an understanding that sometimes it’s more about ruling things out than it is about finding a definitive answer. Genetic deletions within the AUTS2 gene haven’t been researched extensively so there’s still a lot we don’t know. In an effort to be somewhat proactive with very little direction, I joined a Facebook group about this deletion and try to find as much information online as I can even though we don’t fit all of the criteria associated with this particular deletion.
It’s hard to feel like you’re learning more from your own research than from anything provided by experts in the field, but in moments where I’m not totally overwhelmed, I can also find some level of appreciation for the empowerment associated with creating our own roadmap. Every once in a while I find something online that really resonates with us and there’s comfort in that. There’s also some level of comfort in knowing that we know our boys best. As my aunt reminded me recently, my gut has never led me astray. This process has taught me to always, always trust my mama instincts.
After a really tough week last week filled with a lot of parental emotions around what the genetic component could mean for Max and Fletcher we are grateful to feel grounded again. We are on this perpetual sensory roller coaster with our boys and the added dynamic of genetics felt like a lot, sending us into a bit of a tailspin.
Sometimes while in a tailspin we forget that our relationship needs nurturing, just like we nurture our boys. When it feels like there aren’t enough hours in the day and we’re both juggling far more than we have capacity for, it’s easy to forget that we have to very intentionally create time and space for one another. Things feel easier to navigate when we can do it together. And I’m grateful for the reminder.
If you’re reading this and have a kiddo with a deletion within AUTS2, I’d love to connect with you.