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Lost and Found

A family grapples with an infant's mysterious medical condition


Published April 1, 2013 at 4:00 a.m.

I always looked the other way when my babies got the heel-prick test, a blood sample taken soon after birth that screens for a series of rare genetic diseases. The tender skin, the needle poke, the squall of surprise that such a thing could happen in a world of milk and mommy — the sooner forgotten, the better for both of us.

But I was reminded of it a few days after the birth of our third child, when the Vermont Department of Health called. Simon had tested positive for something called maple syrup urine disease, which is not as sweet as it sounds. It's a metabolic disorder that indicates an inability to break down amino acids, and it would forever change the way he ate and the way we all lived — if he had it.

He would need to be retested, said the voice at the other end of the phone. Not to worry yet; false positives happen.

After a week of waiting, the results came back: negative. We breathed again. But the worry wasn't over.

Simon, born three weeks early, wasn't responding as other babies did. He gained weight slowly, then stopped. He didn't coo and babble, didn't turn toward noises to see what they were. At six months, he still startled at any disturbance, little arms flapping out like a bird's wings. It was a reflex that should have disappeared shortly after birth, his pediatrician explained, and might be a sign of neurological problems. Sometimes a false positive on a genetic test can indicate another related problem.

And so began the Lost Year; my husband, Chris, and I remember it only in fragments. In between teaching jobs and parenting two other children, we shuffled from one specialist to another. Geneticist. Neurologist. Cardiologist. Audiologist. The Children's Specialty Center at Fletcher Allen became our home.

Each time we visited the center, we walked by a beautiful display of thousands of paper cranes, folded a few years before by students of mine at the Lake Champlain Waldorf School. The project was a fundraiser for a kindergartner with cancer. I had been touched by it then, but I realized now I'd seen it only through a teacher's eyes. The rows of softly shaded cranes were a reminder of the children's compassion, their hard work for another child.

Now they had another message for me, less hopeful, but just as transformative: Did you think your own children came with a guarantee?

The doctors examined. They speculated. They weren't sure. Simon had developmental and neurological delays, but they didn't form a clear pattern. No diagnosis. He might benefit from any of several therapies, and Children's Integrated Services would be in touch.

As for cognitive delays, we wouldn't know for a while.

Our lowest moment came in Boston, in the office of a kind, grandmotherly woman, a highly regarded geneticist. By this time, Simon was miserable at the sight of a white coat, but she handled him like a pro and had him playing happily on her lap in no time. We loved her.

We asked the question we'd almost stopped asking: "Why?"

"It's hard not to know," she empathized, "but a lot of the time, we never do." But then, as if she wanted to give us more: "It may have been a stroke in the womb."

Pressing my hands in my lap to keep them from shaking too much, I tried to take this in, to understand. But I didn't. It wasn't until much later, after all of the occupational therapy and speech therapy and visits with the developmental social worker, that I realized "Why?" isn't a question a doctor can answer.

The men and women who spend their lives taking care of sick kids have enough to do, and they do their jobs with professionalism and, in my experience, usually a large measure of warmth and grace. But even when we know the mechanism of a disease right down to the last chemical reaction, we don't know why, in the sense that a parent asks it.

"Why?" is from the heart. The only answer is, "Because this is who you've got. This is your child."

Slowly, Simon began to turn around. With the help of a wonderful occupational therapist, he began to eat solid food at 15 months and actually inched his way onto the growth chart. The day he broke the third percentile for height and weight, his brother and sister toasted him with bowls of cookie-dough ice cream. He started to speak syllables, then words, then — oh, the joy of it — phrases. I'd never really savored that miracle with my first two; it had never been a question that they would talk. With more therapy still, Simon's balance and coordination improved; his face was no longer a mask of bruises from falls.

Today, Simon is small but mighty, an affectionate and bullish 3-year-old who climbs everything. He runs fast, makes friends easily and, as far as we can tell, thinks like any 3-year-old does. We stopped comparing a while ago, because the world is full of children who do more, faster. Simon is Simon, and he is really, really good.

Friends have speculated that ours was a case of modern screening gone wrong — that Simon was just a slow-to-bloom baby who, in another era, would never have given a moment's worry.

It's possible. It may also be that early intervention and a team of loving helpers gave him the chance to catch up quickly, and thrive. We'll never know for sure. But that, after all, is what Simon taught us.

This article was originally published in Seven Days' monthly parenting magazine, Kids VT.

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