Doctors Commented on His Hair and Eye Color. Then We Found Out Why.

The story I thought I was in was rubbed out and is being written all over again. I wrote the story while I was pregnant with Rufus and had pretty much got the final draft of the final chapter finished before I’d even given birth. I’d pictured his first steps, first word, first sentence, which school he and his sister would go to, how they’d play together, how she’d teach him things, how they’d argue, the holidays we’d have together, etc.

Of course, everyone who looked at my pregnant belly (including myself) thought there was a completely healthy baby inside. Why would I believe anything different? I can still remember being told at the 20-week scan that we had a “textbook baby.” What is that, anyway? Perfect, of course. Everything as it should be, where it should be, complete and perfect.

Except it wasn’t. It isn’t. Something is missing inside our beautiful baby boy’s body.

He was born 10 days early, and his birth was quick and pretty straightforward. I was in and out of hospital within half a day and back home. He gained weight well even though he was a fairly sickly baby and, amazingly, never seemed to cry for milk. He never seemed to cry for much at all, come to think of it; he was just as happy playing on the floor as he was in someone’s arms.

Around the eight-month mark, there was this tiny, nagging feeling that something just wasn’t right. Rufus was an incredibly happy baby, but he just didn’t seem to do much. If he was put down on his back, he stayed on his back. If he was put on his tummy, he face-planted the carpet, cried and stayed on his tummy. If he was put in a sitting position, he stayed in a sitting position until he toppled backward. He just didn’t seem to want to get anywhere or do anything. Whenever I mentioned it to people, I was told, “They all get there in their own time,” “Every baby is different,” “Boys are lazy” and “Enjoy your maternity leave and don’t spend it worrying.” The nine-month progress check sheet came in the mail, and my heart sank. He could only just do the most basic things a 9-month-old was expected to do. The majority of the check sheet just didn’t apply to him. Something wasn’t right.

The 9-month check came and went, and letters began to arrive in the mail. First an appointment to see an orthoptist and second to see a pediatrician. Things were beginning to get medical now. Maybe Rufus wasn’t playing with toys and eating independently because there was a problem with his vision. Maybe if we got his eyes fixed, then everything would fall into place. Hopefully the pediatrician will tell us he’s fine, just a bit behind and will catch up.

But that’s not what the pediatrician said. The pediatrician said words like “developmental delay,” “diagnosis,” “disorder,” “syndrome” and “blood tests.” The pediatrician said that his squint might have something to do with his lack of hand-eye coordination, but it didn’t explain why our boy was still and silent.

Both the orthoptist and pediatrician mentioned how happy, blond and blue-eyed he was. Why would medical people talk about his appearance and demeanor? We leaned on Google for answers, and it brought us to an answer that changed our lives instantly. We came across a website that described Rufus perfectly.

Blond hair, blue eyes, fair skin, squinting, flat back of head, jerky movements, developmental delay, no babbling, feeding problems, sleep problems… the list went on and we discovered that this list came under a heading of a rare syndrome. We then began looking at photographs of children who shared this syndrome and felt as though we were looking at Rufus’s siblings.

We watched videos of these children on YouTube, and our hearts sank as we realized the future we were looking at for Rufus. We began to grieve for the boy we thought we had. We knew his future would be a whole lot more complex and difficult than we had ever imagined. The more we read and watched, the more we were convinced. The blood tests came and went and the pediatrician arrived with the results.

The pediatrician sent off a small sample of our boy’s blood to be looked at by geneticists and they found that something indeed was missing from inside his body — Rufus is missing a small part of the 15th chromosome. It’s the maternal copy that isn’t there. It got deleted when he was being made. We don’t know why. His brain can’t access the paternal copy, either. So there’s vital information that our boy doesn’t have. It’s so rare that only occurs in approximately 1 in 15,000 live births, but it has a name: Angelman syndrome.

So that’s the story so far. Never in a million years would I have imagined that story when I thought of myself as a mom, when I became a mom to my daughter, Betsy, and when I was pregnant with Rufus.

The story I had imagined was actually a pretty dull one. Easier, but maybe not as colorful. You see, I think the new story is going to be a lot better.

The pages might be a bit damp with tear drops, but they will be full of little victories, milestones met at the most unexpected times, tales of friendships made with people we would never dream of meeting, cuddles and sloppy kisses from the most loving boy in the whole world, an unbreakable bond with the most protective sister, blessings beyond our wildest dreams and yes, all of the things I had dreamed of before.

There will be a first word.

There will be first steps.

We will wait and we will celebrate.

And we will love him.

A version of this post originally appeared on Lucy Hasler’s site.