A Diagnosis for My Son Does Matter

Time and time again, my son’s doctors look at me and say, “It doesn’t change a thing, having a diagnosis.”

They mean having a diagnosis doesn’t change our treatment plan: all the therapies, the services, all the things I do with — and for — my son Roland at home. I nod, because they are right, at least partially. They always say this kindly, patiently, with the implication of “we won’t stop looking, but…” somewhere in there.

We won’t stop looking, but a diagnosis doesn’t change much.

We won’t stop looking, at least not right now. But our options are running out.

This hangs over our heads during each specialist visit, becoming heavier, thicker, in the air with each test that comes up negative or inconclusive.

Time is running out.

We trudge on, though. It occurred to me the other day just how many tests Roland has had in his (almost) 3 years on Earth. I sat down and I listed them out:

A number of blood tests when born
Several hip x-rays
MRIs (one at 4 months old, one at 2 years old)
SMA test
Echocardiogram
Muscle ultrasound
Upper GI
Microarray genetic testing
Whole Exome Sequencing
Whole Genome Sequencing
EMG
EEG
Spinal tap

Not all of these tests were done to find a diagnosis; some were to rule out problems his hypotonia could cause (tests like the echo and upper GI). It has been quite a ride through all of this, and now we are at the end of the road. At this point, the only test we haven’t done is a muscle biopsy — a test I’m told would be pointless to do for Roland. At least at this point.

Now we see Roland’s specialists, like his geneticist or neurologist, once a year. When we see them, they scratch their heads at Roland. He’s a mystery. They are frustrated by the lack of answers. I tell them, “Imagine how we feel.” The difference between Roland’s doctors and my husband and me is that we are frustrated by not having a diagnosis for different reasons. Roland’s doctors look at him like a puzzle to be solved. We just want an answer.

What Roland’s doctors don’t understand is that a diagnosis does matter. It matters a whole lot. A diagnosis would give us an explanation. It would be closure. It would be an end to the speculation, the questions, and the frustration…

A diagnosis would give us a prognosis: what will Roland’s future look like? Is this something that will change or get worse with time? Are there other kids like him with the same disorder? A diagnosis would give us a name and would connect us to other families. A support group. Without a diagnosis, we don’t feel like we really belong anywhere or fit in with anyone.

So, I will say it again: a diagnosis does matter.

And we will keep searching.

Follow this journey on All Things Considered.

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