De Novo

I was re-reading some online articles from Pub Med yesterday about Sarah’s disorder. The first few articles from around 2019 and 2020 that recognized a cohort of kids like her and started using the name Complex Early Onset SPG4 or De Novo Early Onset SPG4. Before that we had only been told she had an unusual presentation, or that her symptoms didn’t really correlate to the presentation of her genetic disorder, which usually affects adults late in life. We went through so many confusing diagnoses before they understood her.

I do search the internet still, every so often, to see if there have been more articles on her now-defined genetic syndrome, or if NIH is having another conference on the syndrome like they did in the Spring of 2022. I was re-reading an article that came out a little less than a month after she died, on September 14, 2022. I’m pretty sure I’ve read it at least three or four times before, but to my surprise I found a mention of her that had never registered on me. Not by name of course, but it was obvious they were referring to her. The article, which is called

I do search the internet still, every so often, to see if there have been more articles, or if NIH is having another conference on the syndrome. I didn’t find anything new but I re-read an article that came out a little less than a month after she died. I’m pretty sure I’ve read it at least three or four times before, but to my surprise I found a mention of her that had never registered on me. Not by name of course, but it was obvious they were referring to her. The article, which is called “Early Onset and Severe Complex Hereditary Spastic Paraplegia Caused By De Novo Variants in SPAST” (I’m sure you’re dying to read it) was discussing some of the most severely affected childen studied, said “Similarly, a 16-year-old female patient developed spasticity in infancy associated with poor motor development (never sat unsupported, crawled, or walked) and contractures, segmental dystonia, generalized epilepsy, moderate intellectual disability, and speech regression (at best, spoke a few words but is now non-verbal).”

I don’t know why I never associated this description with Sarah before or recognized that they were talking about her. She was 16 (or would have been) at publication. And in medical terms, it does describe her. Maybe I glossed over it, or didn’t think of her, because it was so reductive. Saying that, at best, she spoke a few words but is now non-verbal is not how I would ever have described Sarah, although I suppose that she never did really speak in sentences and at the peak of her verbal abilities had a vocabulary of about 200 words. And while we have many pictures of her sitting by herself, I guess she’s always propped against the back of the couch, or in a carseat, or supported in some way. She did walk with a harness or in the pool for a while. Generalized epilepsy sounds really scary, much more than the four or five seizures she had.

I felt sad yesterday when I realized I had never before recognized Sarah in this little blurb. But this morning I feel like she was hiding in plain sight, waiting to peek out and surprise me. Which would be a Sarah thing to do. Surprise your mommy and laugh.