There Is Something Wrong With My Son — But No One Knows What

By the time I knew he was coming, he was already bigger than a blip on the ultrasound screen. I was two months along and could see his discernible head and body as well as the somewhat elongated leg and arm buds looking back at me from the sonogram. There he was — my Amos — the fourth child I’d longed for but had ultimately decided against. We already had three healthy children, busy lives, and felt profoundly content. Even though I’d wanted a fourth, I’d found peace with our decision. I’d even encouraged my husband to get a vasectomy. Life would move forward with three kids. And yet, there Amos was. Looking back, I wonder now if we'd missed something. A mark on the screen. A shift in his position. A sign that would have told us something was wrong with our baby. A clue. Anything.

His birth, not quite seven months later, was a bit tumultuous. Just 30 minutes after we’d made it to the hospital I was on the operating table, undergoing my first c-section. When it was finished, Amos fell not quite so perfectly into this world. Our pediatrician told us that he had hypospadias — a condition where the opening of his urethra was on the underside of his penis, instead of at the tip, according to the Mayo Clinic — and that he’d need a surgical repair later. I also noticed immediately after his birth that both of his eyes seemed to wander outwards, particularly his left, though attributed it to being a newborn. But to be sure, we spoke to our pediatric ophthalmologist who said Amos would likely need surgery for alternating exotropia (eye misalignment, according to the American Association for Pediatric Ophthalmology and Strabismus) and by six months, Amos was wearing glasses and we were patching his right eye to encourage his left to be used. Soon after we had ear tubes inserted, after discovering he was hearing like he was under water due to the positioning of his Eustachian tubes, as well as prevalent fluid build up in both ears. And that is only official report of what could be fixed at a surgical level.

Looking back at pictures, I know Amos often had his eyes closed, and unlike his grinning sister at three weeks of age, when I searched his face for a glimmer of a smile, I was left waiting. It did not come and did not happen, not at two, four, six, eight, or 10 weeks. It felt very scary to me, the kind of fright that resonated so deeply I mentioned it to no one.

I remember the interventionist watching him lie on the blanket on our living room floor and innocently asking what he could do. “This is it,” I replied.

At three months old, Amy finally smiled, but the relief I’d expected did not come. On a hunch I sought out the opinion from a geneticist at Miami Children's Hospital. A battery of blood tests were run and came back showing nothing, and then the doctor herself went over Amos with a fine-tooth comb. She pronounced him “OK,” though she admitted she wasn’t 100-percent sure. He still had several “markers,” as she called them: wide-spaced nipples, low-set ears that were also a bit pointed, hypospadias, and exotropia (where one or both eyes turn outward, according to the American Association for Pediatric Ophthalmology and Strabismus). He did not look dysmorphic, she said, and though I had never encountered this word, I read the intended innuendo and understood: He did not look deformed, and that was a good sign.

We went home to “wait and see,” and that we did, mainly waiting and shrugging off the fear embedded for those summer months. At 10 months of age, I had Amos evaluated for physical therapy and feeding therapy. I knew he should be eating solids, but he gagged and vomited after a few bites every single time we tried. But I kept these details to myself, still holding out hope, wishing it would all go away. I could blink, and things might be fine again. I could sleep, and I’d wake from this bad dream. But I did, I tried, and nothing changed.

I remember the interventionist watching him lie on the blanket on our living room floor and innocently asking what he could do. “This is it,” I replied. I was Amos’ mother, a woman with a Master's degree in Early Intervention and a Doctorate in Education who’d specialized in child development. And I was clueless. Suddenly I was a mother stranded on an island and all the education in the world could not save me or Amos. I was embarrassed and humbled. Why had I waited? All at once the world around us began to unravel well beyond my control. I had failed. Myself. My son. In my role as mother.

But I didn’t have time for self pity. So I swallowed my tears and my pride and we got to work.

Raising Amos has been a journey of great joy, sorrow, fear, pain, anxiety, tenderness, and tears. We hunt for an effusive diagnosis, one that gets farther away with each doctor appointment and test run. With each day and test that comes back empty, I struggle for a balance between wishing and accepting, concern and overwhelming consumption, hope and an acknowledgement of our reality.

Amos finally sat up at 11 months and then crawled at 14 months. Soon after, we saw our developmental pediatrician for the first time and he suggested an MRI as a way to possibly explain any brain abnormalities. We were able to call in a favor and the MRI was the following day. I don't know if I could have withstood the waiting. The MRI did show a couple anomalies — delayed myelination (less than average amount of myelin covering his nerves, which means slower travel of signals, according to the National Center for Biotechnology Information) and slightly protruding spheres (which could indicate less brain mass), according to Johns Hopkins — though those observations alone did not fit into an encompassing name or diagnosis. Though we were relieved there was no evidence of a named serious neurological issue, we were again left to wonder. No news is good news, I suppose, but I know better.

No matter how far we travel in search for answers, no one can give me the only one I want.

I had scoured the shelves in search for an answer as to what was wrong with Amos and I could not find it. I was sure that if I dug a bit deeper there would be a book with a lovely boy or girl in glasses on its cover; one that delves into life with a child with developmental delay or a lack of a "real" diagnosis. Because that's what Amos has: a diagnosis no one can name; a delay no one can quite put their fingers on. Raising Amos has been a journey of great joy, sorrow, fear, pain, anxiety, tenderness, and tears. We hunt for an effusive diagnosis, one that gets farther away with each doctor appointment and test run. With each day and test that come back empty, I struggle for a balance between wishing and accepting, concern and overwhelming consumption, hope and an acknowledgement of our reality.

Our latest specialist (oral motor) wrote this formal summary regarding our son:

Amos is not moving his oral musculature. He has little to no upper lip mobility, no lip rounding, and no cheek moment. Instead, Amos is always in a high jaw position (with a lot of extraneous jaw sliding as he attempts to motor plan for sounds), his tongue is not moving, and there is no dissociation of jaw/lip/tongue movement.

These highly sophisticated observations mean that Amos moves his jaw and mouth and tongue as one unit. He almost constantly moves his lower jaw from side to side. He has the proper intonation for sounds yet he cannot make a “B” or “D” sound. The reality is that Amos is over a year behind his peers. He learned to walk right before his second birthday and still falls quite a bit. He's just learning how to step off a curb, whereas other children his age are running and jumping. His words amount to “mama” and “up,” far below the 50-250 words he should have by now and the two-to-three word sentences that are expected by 2-and-half year olds, according to the Mayo Clinic. The questions of his delays follow us everywhere: at the playground, shopping, church, even the drugstore.

We visit the Ear, Nose, & Throat (ENT) doctor to monitor his ear tubes and hearing; the pediatrician so he can write the prescriptions for the many therapies Amos receives; the orthopedist to check his hyper flexibility and AFOs (ankle braces to provide stability); the craniofacial surgeon to determine any problems with his palate that may be inhibiting speech; the urologist to ensure his new urethra is working properly; the geneticist who remains absolutely puzzled; the neurologist who can not explain the myelination and larger spheres in his brain; and the ophthalmologist to monitor his vision and to make sure his eyes are being used equally to prevent Amos from losing even more of his vision. Each week Amos has speech therapy four times, occupational therapy three times, and physical therapy twice per week. Our days are filled with oral motor exercises, walks around the neighborhood, soccer games, PTA nights, and carpooling his three older siblings.

Though I feel I already know, I still want someone to tell me, with certainty, what will happen to my son. Will we ever have an answer? Would an answer even change anything?

We work each day and sometimes only accomplish little. On other days, we cheer when he’s released a semblance of the word “Hola!” I am Amos’ gatekeeper, the one who doles the words and sounds out to my husband in between hopeful sobs. I am honest with my older son, who at 10 understands Amos is not like the other kids his age but like me, admits he wouldn't trade him for any other.

I carry a phone with me in order to catalogue the thoughts that plague me, which also houses a long list of phone calls to be made late in the evening or during the hour or so respite I have each afternoon when Amos naps: I call the airline to schedule our airline tickets for our trip to see an oral motor expert in Connecticut; line up sitters to help after school with our other three children before their dad gets home while Amos and I are away; I confirm that his treatments and prescriptions are covered by our insurance company; I call, once again, to see if he has been approved yet for Medicaid. Yet no matter how far we travel in search for answers, no one can give me the only one I want.

The fear of the unknown, Amos' future, hovers over me and attempts to blind me from all his wonderfulness. Though I feel I already know, I still want someone to tell me, with certainty, what will happen to my son. Will we ever have an answer? Would an answer even change anything? I am tired of wondering and pretending, of being sad and worried. So I make the choice every morning to move forward with a new spirit. I do what I think is best for Amos. I don’t know what today or tomorrow will bring for my son. I don’t know if we’ll ever have answers.

My dreams for him are part of a collection, not unlike the ones I’ve created for my other three children. His are more vibrant though, brilliant in color and sharp in sound. The future is far away and scary, but today is lovely, wonderful, and full of laughter. I choose to live with acceptance, hope and love, humor and tears. We may never find an answer, but in the process have found so much more.