Microcephaly, or a small head

I thought I had contracted the Zika virus. Turns out Riaan had Cockayne Syndrome.

by Jo Kaur

One of the symptoms of Cockayne Syndrome is microcephaly, or an abnormally small head size. When you think of microcephaly, you might think of Zika. Zika can cause babies to have tiny heads, and it was a major concern to parents a few years ago. It was also widely covered by the media.

However, as it turns out, microcephaly is probably the first symptom of Cockayne Syndrome to appear in many babies. Shortly before Riaan was born, I was told that his head circumference was in the first percentile. If you’re familiar with the Centers for Disease Control (“CDC”) growth charts, you’ll know that anything under the tenth percentile is concerning, anything under the fifth is troubling, and anything under the third is extremely atypical and cause for panic. I was getting mixed messages from my healthcare providers on how concerned I should be.

“Don’t worry, he’s proportional.”

“Give him time. We’ll monitor the situation.”

I tried to remain calm, but then maybe a week before Riaan was born, one of my gynecologists - not one I typically saw in the practice of rotating gynecologists - detected irregular heartbeat activity, and told me to rush to the hospital. She then said, and I remember this so clearly: “His head is in the first percentile! You need to go to the hospital now!”

I became scared again but then thought she was overreacting. Everyone else had been so calm about it and barely talked about it, what was her problem bringing up his head size? At that time, I had more of a “duck head in the sand” philosophy when it came to medical concerns.

Riaan was born a week later, induced. His head circumference was 31 cm. Typical babies range from 32 cm to 38 cm. I was terrified - was he microcephalic? I had become familiar with this word, having done hours and hours of Google searches. I became paranoid I had been bitten by a Zika-infested mosquito, and that’s why his head was smaller than normal. Why did I walk around in that mosquito-infested park in Florida?! What was I thinking? Never mind that I had cleared a Zika test in my first trimester.

No one said anything to me at the hospital. No one mentioned the word microcephaly. It wasn’t documented anywhere on his medical papers. I was too terrified to bring it up. Ok, I thought. The doctors must think he’s okay, healthy. I can put this microcephaly business to rest. I breathed a sigh of relief.

At home, I regularly measured his head size and monitored him just in case. I memorized the CDC growth charts.

“Just be third percentile or above. Just be third percentile or above,” I used to pray every time I checked his head. He never was.

At Riaan’s first month check up, his head grew to 34.5 cm. His pediatrician was so pleased and said he was growing and gaining well. Then Riaan had cataracts at three months, and we took him to a neurologist at four months because he was beginning to show symptoms of hypotonia (low muscle tone). He still did not have head control, which is something most babies acquire by three months.

The neurologist measured his head size, and I held my breath. He turns to me, “He’s 38 inches. That’s fine. That’s normal.”

I had never relaxed harder. I stopped shaking, I calmed. I was so relieved. At that appointment, the neurologist told us to continue to monitor Riaan and to give him time. He said vision can impact developmental skills quite a bit, and Riaan had quite the setback with his eyes. That made sense to me. Note we had already done a genetic cataracts panel, as well as other genetic panels, and everything had come back negative (but we had never done a microcephaly panel).

After that appointment, I reviewed Riaan’s online patient chart. To my horror, the neurologist who claimed Riaan’s head size was fine had diagnosed him with microcephaly! But he hadn’t said a word to me about it. Surely, there must be a mistake? If he was really worried about his head size, wouldn’t he have talked to me about it?

I obsessively measured Riaan’s head for months. Praying for it to grow fast. I panic Googled from time to time, trying to figure out what could cause microcephaly on Riaan. Nothing seemed to fit. (Note, Cockayne Syndrome never came up in any of my Google searches and Riaan did not look like any of the images of microcephalic babies on Google). We took him to our regular pediatrician check ups. No one said anything about his head.

When Riaan was 8 months-old, we were back at the geneticist. This geneticist ran a mitochondrial panel (which later came back negative). At the appointment, she was the first doctor to bring up his head size. She said, “Well there is the microcephaly...”

I gasped. What? Did she really say the M word?! I was so scared of what she might say next. Then she said, “But I’m not worried about it because he is growing proportionally.” She said it wasn’t a symptom she was concerned about. Again, I felt elated! Riaan was fine, his head was fine!

Anyway, then we fast forward to Riaan at 15 months, and we get the diagnosis of Cockayne Syndrome. In between this time, we also learned from our pediatrician and neurologist that Riaan’s head size was no longer proportional to his weight and height. The neurologist had finally brought up his concerns but still did not use the term microcephaly. I didn’t even know what to expect, but I kept measuring his head, which kept growing, which is still growing.

I no longer need him to be in the third percentile or above. I just need him to continue to grow, and as long as he continues to grow, it is evidence that he is still doing okay.

Now I’m no longer afraid of the word microcephaly. I can say it out loud. In fact, if the geneticist had run a microcephaly panel in the beginning, we would have received Riaan’s diagnosis much earlier. I now understand microcephaly is a symptom of his disease and that children with Cockayne Syndrome can have brains that are a third of the size of typical children.

I also know that Riaan continues to grow and progress, on his curve, and that’s my new benchmark. Not the CDC growth charts.

After Riaan was diagnosed, I talked to another mom of a child with Cockayne Syndrome and she told me she used to obsess over her child’s head size too but then stopped after she found out the news. There’s a certain liberation when you get a diagnosis - you can’t will something that is not possible, that is out of your hands - and it’s not your fault. It’s not the mosquito in the park. It’s a complex biological process that you cannot control.

This knowledge doesn’t alleviate the pain but it does provide understanding, and in that, you can regain some of your control.