Diagnostic Odyssey

When I first read the phrase, I thought he was waxing poetic, striving to be both a doctor and a wordsmith — a Renaissance man of sorts.

“Cyrus’ hypotonia and congenital malformations have led his mother along a diagnostic odyssey for possible underlying genetic causes,” wrote a young doctor at a hospital in Utah, where we’d flown to see a pioneer in genetics.

Diagnostic odyssey.

The phrase was perfect — satisfyingly so.

That’s what this is, I thought. There was a name for this “fresh hell” I’d experienced for the past five years, this string of doctor appointment, doctor appointment, hospital visit, doctor appointment. For this journey to five states, seeking answers to what was “wrong” with my son, who I would later learn has genetic “errors” so rare that it is much easier for doctors to dismiss them than to admit that they don’t have the time, interest or intellectual bandwidth to put a name to them.

There was a name for this living out of bags — this grabbing the one we’d half-unpacked from the latest out-of-state medical trip, on my way out the door to the ER. For this grabbing the same bag the next week for a several-day stint at the Ronald McDonald House in Denver during a “tour de force” of appointments.

There was a name for this constant state of confusion — for this being told in the NICU that my son looked “Downsy,” to being told that nothing was “wrong,” to collecting a laundry list of subdiagnoses like tethered spinal cord and macrocephaly, to being diagnosed with a rare form of primordial dwarfism, to being told that diagnosis was wrong, to being sent back to the no man’s land of the undiagnosed — open to the interpretation of doctors whose opinions were more often a reflection of their discomfort with feelings of inadequacy, than my son's reality.

Others, too, were on this journey of rare disease — each in his own boat, awash in isolation, tossing up a flare when an occasional boat passed in the distance.

Having nothing to offer his fellow traveler save an affirmation of his circumstances and threadbare sanity.

You, too? Godspeed. 

The isolation rare patients feel defies the numbers. There are hundreds of millions of families worldwide being tossed around by the choppy waves of rare disorders. More than 7,000 conditions have been identified, according to Global Genes, an advocacy organization that supports the community as a whole.

But no two patients are the same. Symptoms and presentations vary. Some patients have multiple conditions. And when you’re one of only a handful of individuals worldwide identified with a particular error, it can be difficult to connect with those like you — even in this internet age.

Happily, in Colorado Springs there are groups to support families touched by Down syndrome, cerebral palsy, autism.

But for FG syndrome, for Mitochondrial complex I deficiency … for patients who have both? It is, in all likelihood, a club of one — even on a global scale.

I revel in the fact that there is no one in the world quite like my son. I love my quirk, my contrary. He is not, as I flippantly put it, a child of “the man.” He truly broke the mold — scratch that, he obliterated it.

But there’s a price to pay for such uniqueness. No one else truly knows what I'm going through — when my son, recovering from a bone biopsy on his foot and attempting to keep the wound dry, vomited on it (Murphy’s law). When test results returned partially mimicking yet another ultra-rare disorder. When doctors sparred over whether or not my son has “mental retardation” or simply global developmental delay and global learning disabilities — as if intellectual disability is that much of a gray area.

In this world, everything is.

Day in, day out, I sail this sometimes stormy sea of gray, flecked with the colorful confetti of my son’s personality that he tosses as he zips about.

Cyrus is the sun, warming me — and all those nearby — with his persistent, easy, forgiving love and gooberish smile.

I’m guided by the north star of my “mama gut,” following its commands even when they seem more like whims — even when they seem quieter than usual, less authoritative and more confused.

I have no map.

I have only one constant companion in this small boat, ours alone: my co-captain, my son. Someday he’ll need to take over the wheel. Perhaps I can navigate the worst of the waters for him so by the time he reaches adulthood, smoother seas abound.

Perhaps, if I try hard enough, I can steer us to shore before he must take over. Then he can rejoin the rest of the world on land, molded by his journey into an empathetic, compassionate soul, but not daily afflicted by it. Not scarred, but sculpted — like sea glass freshly washed up on a beach, glimmering in the sun.

We have hope of better days ahead.

And so, we sail.

Godspeed.

Editor’s note: This piece inspired a 2021 piece published in The Gazette in Colorado Springs, Colo., for a National Press Foundation Rare Disease Reporting Fellowship. You can read that piece here.