Commentary | And So We Navigate: Diagnoses and Demons on this Diagnostic Odyssey | Subscriber content
When I first read the line, I thought it was getting poetic, striving to be both a doctor and a blacksmith – a Renaissance man, in a way.
“Cyrus’ hypotonia and birth defects led his mother on a diagnostic odyssey for possible underlying genetic causes,” wrote a young doctor at a hospital in Utah, where we flew to see a pioneer in genetics.
The sentence was perfect – satisfactorily.
That’s what it is, I thought. There was a name for that “cool hell” that I had known for the past five years – that series of doctor’s appointments, doctor’s appointments, hospital visits, house appointments. doctor. On this trip to five states, in search of 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 reject them than to admit that they don’t have the time, interest or expertise to name them.
There was a name for it, living with bags – the one we had half unpacked on the last medical trip out of state, as I walked to the emergency room door. For this tussle of the same bag the following week for a passage of several days at the Ronald McDonald House in Denver during a “tour de force” of appointment.
There was a name for this constant state of confusion – for telling the NICU that my son looked ‘downsy’, for being told nothing was going ‘then’, for putting together a long list of underdiagnoses like attached spinal cord and macrocephaly, to be diagnosed with a rare form of primordial dwarfism, to be told the diagnosis was false, to be sent back to the no man’s land of the undiagnosed.
Others, too, were on this rare disease journey – each in their own boat, awash in isolation, launching a rocket when an occasional boat passed in the distance.
Having nothing to offer to his traveling companion, except an affirmation of his situation and his threadbare reason.
You also? Good winds, next sea.
The isolation felt by rare disease patients defies the numbers. Hundreds of millions of families around the world are rocked by the choppy waves of rare diseases. Between 5,000 and 8,000 conditions have been identified, according to the World Health Organization – all “serious chronic diseases” with the potential to be life threatening. About one in 15 people worldwide have or will have a rare disease in their lifetime.
But no two rare patients are the same. Symptoms and presentations vary. Some patients have multiple conditions. And when you’re one of a handful of individuals around the world identified with a particular issue, it can be difficult to connect with people like you, even in the digital age.
Fortunately, in Colorado Springs there are groups to support families affected 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 globally.
I rejoice in the fact that there is no one in the world like my son. I like my eccentric, my opposite. He really broke the mold – scratch it, he erased it.
But there is a price to pay for such uniqueness. No one else really knows what I’m going through when the test results come back, which doesn’t rule out another ultra-rare disorder. When doctors wonder whether or not my son has “mental retardation” or just overall developmental delay and global learning disabilities – like intellectual disability is a gray area.
In this world, everything is.
Day after day, I sail on this sometimes stormy sea of gray, strewn with colorful confetti of my son’s personality that he throws zigzagging.
Cyrus is the sun, warming me – and everyone nearby – with his lingering, easy-going, forgiving love and goobish smile.
I’m guided by my ‘mom gut’ north star, following her commands even when they sound more like whims – even when they seem quieter than usual, less bossy, and more confusing.
I don’t have a card.
I have only one constant companion in this small boat, ours alone: my co-captain, my son. One day he will have to take the wheel. Maybe I can sail the worst waters for him, so by the time he reaches adulthood, calmer seas abound.
Maybe if I try hard enough, I can get us to shore before he has to take over. Then he can join the rest of the world on earth, shaped by his journey into an empathetic and compassionate soul, but not daily afflicted by it. Not scarred, but carved – like sea glass freshly washed up on a beach, glistening in the sun.
We hope for better days to come.
And so, we navigate.