A sledgehammer blow

Throwback to almost exactly two years ago: 

Excited by the prospect of taking Shaina to Sheba hospital in Israel, we had nagged her doctors to prepare all the relevant medical documents for us to send across. In early November, Shaina’s neurologist informed us that her medical file was ready for collection. She also asked to schedule a time to meet with us. I dashed over to pick up the file, not overly concerned by her invitation to meeting the following Thursday. In retrospect, I should have realised that something was up. Standard practice is for the patient to request an appointment with the doctor, not the other way around. Shaina’s doctor had also specified that Shaina should not attend the meeting. We missed that red flag too. 

We rationalised that the doctor, knowing we were seeking international advice, wanted to reassure us. No problem. We trusted her. Taking Shaina overseas wasn’t a vote of no-confidence. Parents have to do everything they can to help their children. We were trying to do just that. I mentally parked the upcoming date with the doctor and got to uploading Shaina’s medical files to share with the Sheba team.  

Each document that I scanned and uploaded carried a unique memory. Ah, there was the EEG that had detected her petit mal seizures. Here we had the growth charts that reminded us Shaina was gaining weight too quickly. There were the unending printouts of blood results. Oh, I had almost forgotten the metabolic screening that had indicated nothing out of the ordinary. Gosh, there were still more blood reports. 

As I mechanically reached for the next page to scan, something caught my eye. The stationery looked unfamiliar. It struck me as odd to find a medical report that I had not seen before. The date read 29th October- just a week earlier. Strange, Shaina hadn’t undergone any tests in October. 

Curious, I began to read this report from a U.S. institute that didn’t sound familiar. How did they know Shaina? What medical tests could they possibly have done in ‘Frisco for our daughter in Joburg?

Realisation whacked me between the eyes. 

“Diagnostic test for a history of disease”. “Tests performed: Sequence analysis and depletion/ duplication testing of the 146 genes listed…”

These were the results of a genetic screening. 

What? How? 

Shaina’s neurologist had previously recommended that we send blood samples overseas in case we’d ever want to run a genetic screen. She’d reassured us the lab would not process any screening without our consent- and certainly not without payment. We had done neither. Yet, here I was staring at the results of a genetic screening. 

Just a few days before I found the unexpected medical file

My first impulse was excitement. Perhaps now we’d uncover the mystery of Shaina’s complex medical challenges. G-d had answered our prayers. 

Then I read on.

Result: Positive. 

This was before Covid. A moment beforehand, I had still believed that positive was a good thing. 

My blood froze. 

The report jargoned about a “likely pathogenic” variant of the “WDR45 gene”. 

I didn’t like the sound of “pathogenic” but clung to the hope that “likely” might be a reassuring caveat. 

The rest of the paragraph detailed three possible syndromes that this gene “variation” could cause. I had never heard of any of them.

Chilling clarity exploded in my brain and strangled my chest. Now it made sense that Shaina’s doctor had asked us to her rooms. 

This. Was. Not. Good. News. 

Thank G-d, nobody was in the room when I stumbled on this information-I-immediately-wished-I-had-never-seen. Had Naomi or the kids been there, they would have immediately detected my shock. I would have had to explain what I had found- and that would have been near-impossible because I had no idea what I had uncovered. 

To wait four days until our meeting with the doctor was unthinkable. Instead, I made the rookie error of Googling the three listed syndromes.

All three were hideous. 

As I read, suffocating anxiety knotted my chest. Any one of these conditions smashed our illusions of Shaina living a “normal” life. Our bright-eyed, always-smiling bundle of laughter belied the bleak prognoses I was reading. 

What did this all mean? How could this be happening? Would we cope? How would her siblings react?

Should I tell Naomi what I had discovered or wait for the doctor to do it on Thursday? We keep no secrets, and I knew that she would want to know.  

Later that night, I watched Naomi sleep peacefully as nightmarish scenarios stole my sleep. While thoughts that no parent should be allowed to think cascaded through my mind, she slept. Naomi was blissfully unaware of the storm clouds rapidly gathering over our family. As I twisted and tossed through the night, I decided that the greatest gift I could ever offer Naomi would be three-and-a-half days of naivete. 

I didn’t sleep properly once that week. I cried into my pillow only when everyone was already safely asleep. Every interaction between Shaina and our other kids stirred a range of emotions. I snapped photos of her every move- memories of good times that I believed would soon be subjected to a countdown timer.

By Wednesday, I was cracking. I phoned our trusted paediatrician and poured out my soul. He heard listened patiently. He reassured me that Shaina did not present any classic symptoms of two out of the three listed conditions. The third, he had never heard of. I didn’t think that was possible. A man with six decades of medical experience, he had seen everything. If he hadn’t heard of this, it was possibly not too serious. Right? 

RIGHT??

He reassured me that every syndrome presents across a broad spectrum and that he believed Shaina was probably on the lighter end of the disease scale. 

It was a spark of optimism in what was suddenly becoming a very dark world. I’d take it. I clung to it to get through the remaining hours until our foreboding neurologist appointment.