Sotos Syndrome, She’s Rare

“She is so big!”

“Look at how long she is!”

“How old is she, again? She looks so much older…”

Yes, she’s long. Yes, she’s tall. Yes, she really is only ten months old. 

Last year, on November 24th, fresh out of a three-week stint in the NICU, my daughter and I headed downtown to the Children’s Hospital for a full day of appointments. It was the first time we had really left our house; I curled my hair, packed my coffee, and collected all the paperwork I had from every specialty we had seen and would be seeing. Since there were still hospital restrictions due to COVID, my husband couldn’t come with me. Developmental Pediatrics was up first; we’d move on to Pediatric Ophthalmology and then see Pediatric Endocrinology. I was nervous and more than a little overwhelmed; my other two children hadn’t needed more than a regular pediatrician appointment after we left the hospital. 

The nurse practitioner walked in and immediately began listing all of the complications Felicity had faced in her short five weeks: placental abruption, premature birth at 35 weeks, respiratory failure requiring assisted ventilation, feeding difficulties, hypercalcemia, Atrial Septal Defect(ASD), and Ventricular Septal Defect(VSD) and Grade 2 Germinal Matrix brain hemorrhage. There I am, masked, alone, trying to comfort a tired newborn, and she’s just lobbing grenades at me left and right. Then she casually throws out a nuclear bomb, “genetics came back; I don’t know what any of it means, but I’ll print it out for you.” if you’re wondering right about now how to tell a parent that their child has a rare genetic disease, may I recommend NOT doing it that way. 

The nature of a “rare disease” is that it is, in fact, rare. In the United States, a rare disease is defined as one that affects fewer than 200,000 people, and the NIH estimates that there could be up to 7,000 of those. So when I looked down at this piece of paper as I struggled to latch my screaming infant, I hope you can appreciate how extraordinary it was that I recognized one word out of all medical vernacular I didn’t understand: Sotos. 

I knew that word. You see, the internet is a crazy place. Social media is a beast of its own, and while it can certainly be filled with negatives, it can also be a blessing in disguise. I’m part of one of those groups, a “mom group.” One of the women I had gotten to “know” in this group has a son with Sotos. So as the developmental pediatrician left me, shaking, scared and alone to process that my entire life had just changed, I sent a message to another mom that I had never met face-to-face. She was, at this point, inherently a stranger, and I reached out in desperation, a life-raft…if I’m honest, I was secretly praying that she would tell me that I didn’t have to worry; after everything we had been through, we didn’t have to worry anymore. My brain couldn’t handle the idea that anything else could be “wrong” with my daughter. By the time I arrived at ophthalmology, I was already getting information, being sent the names of specialists, and being “introduced” to other parents of Sotos children that also lived in the Midwest. So I sat there, crying silent tears into my mask, and called my husband.

Sotos Syndrome is a rare genetic condition caused by a variation, mutation, or deletion in the NSD1 gene. Also called Cerebral Gigantism, Sotos causes rapid physical growth in the early years, often accompanied by cognitive, physical, and emotional developmental delays. My daughter’s variance is a copy of one letter, whereas most copies can be tens to hundreds of letters long and have never been recorded before. This change, or variance, is “de novo” or spontaneous, meaning it wasn’t inherited from her parents. If she desires to have biological children in the future, there will be a fifty-fifty chance that she passes Sotos on to her child. The list of characteristics associated with Sotos is long, and its “symptoms” are even longer, each having a varying degree of severity.

Before last year I had a fundamental understanding of genetics; high school biology didn’t examine in-depth genetic sequencing. The learning curve has been profound, and I have had to walk a tight line between educating myself and “borrowing trouble.” What may be a significant problem for one Sotos patient may not be a problem for my child. One of the most profound parts of this journey for me has been my grief. No one wants to hear that their child will be different or that their road may be inherently more difficult than their peers. One doctor told me that she wouldn’t even smile at me for the first few years (I am pleased to announce that I rarely see her without a smile.) Receiving such an early diagnosis has been a blessing and a curse. On the one hand, she has received early intervention from PT, OT, and feeding therapies. On the other, knowing that genetics can’t be changed, I can’t help but watch her for certain delays or problems and, the worst, compare her to others. In some ways, I adopted the mantle of “special needs Mama” rather quickly, feverously researching and compiling a list of specialists; in other ways, my acceptance has been slow, painful, and not unlike the five stages of grief. I have hemmed and hawed, wondering if I would ever share this part of our journey with anyone outside of our close family and friends; does sharing this with the world mean others will limit their expectations of who and what she can be? Will it help? Will I feel less alone? I don’t know. What I do know is that my daughter has Sotos Syndrome. She is a literal joy to be around. She smiles with her whole face. She is doing remarkably well, she is a blessing in so many ways, and she is, in fact, very tall.