The Long Road to a Name
There’s something uniquely painful about being told a hundred different things, only to be left holding nothing solid. H’s journey has been filled with more questions than answers and more misdiagnoses than I care to count. This is a small snippet of what it took to finally land on something we could name.
But even more than the name…
This is about what we know for sure.
June 6, 2017 Life Changed While He Slept
Hospital 1
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Bloodwork and urine tests
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Diagnosis 1: Strep
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Sent home with antibiotics and the promise he’d be better in 10 days
June 7, 2017
Hospital 2
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MRI, bloodwork, urine
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Diagnosis 2: Acute Cerebellitis Ataxia
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Viral, temporary, “he’ll be fine in two weeks”
June 8, 2017
Hospital 3
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MRI, X-rays, ultrasounds, lumbar puncture, EEG, more labs
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No diagnosis
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Vague mention of a degenerative neurological disorder
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No plan. No idea what to do next
June 14, 2017
Diagnosis 3: Opsoclonus Myoclonus Syndrome (OMS)
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Began high-dose steroids and first dose of IVIG
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One week later: chemo
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Two weeks after that: more chemo
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Monthly IVIG through April 2018
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ACTH injections (Dec 28, 2017–Feb 27, 2018)
April 2018
Hospital 4
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Confirming OMS diagnosis, fearful of degenerative neurological process
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Repeated nearly all tests: MRI, X-rays, LP, ultrasound
Final Dx from Hospital 4: OMS
May 2018
Back to Hospital 3
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New idea: Maybe not OMS, but Spinocerebellar Ataxia (SCA)
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Degenerative. Genetic. No cure. No treatment.
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He still wasn’t walking
June 2018 was A New Day
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Unconventional treatment
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Four days later:
He. Was. Walking.
On the beach.
“Now faith is confidence in what we hope for and assurance about what we do not see.”
Hebrews 11:1
July 2018
Diagnosis 4:
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Genetic findings: 1 copy of MRE11A mutation on chromosome 11
February 2019 — Hospital 5 (UPMC Pittsburgh)
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ATLD1 diagnosis debunked
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Returned to third diagnosis: Opsoclonus Myoclonus Syndrome
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Restarted treatment
And then… blah blah blah.
Because honestly? It’s been years of back and forth. Years of new guesses, new scans, new terms, new fears. So many months, so many procedures, so much medicine, and so much exhaustion for him, for us.
What I Know for Sure
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He does not have Friedrich’s Ataxia.
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He does not have a mutation on MRE11A (ATLD1).
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I finally got a straight answer from Dr. Thakkar in Pittsburgh.
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We have good days and bad days.
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I am an expert on my son, and I will not waver just to satisfy a doctor’s pride.
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He is cute.
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Best. Smile. Ever.
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He is also a turd.
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I will not compromise my faith.
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God. Is. Bigger.
“He is before all things, and in Him all things hold together.”
Colossians 1:17
I’m tired of man telling me what this is or isn’t when they don’t even know. These doctors (most of them) have never even seen this. They are learning on him. And we’re the ones who carry the cost of that learning.
But I am not bitter.
I am anchored.
“But the Lord stood with me and gave me strength…”
2 Timothy 4:17a
Because we don’t walk alone. We never have.
Heartbeat Moment
This isn’t just about a diagnosis. It’s about a child whose life changed in a moment, and a family who refused to let go of faith. Standing on the truth, even when no one else sees it yet. It’s about choosing joy, again and again, and declaring that our God is still good.
H is more than a list of symptoms.
He’s more than a diagnosis.
He is living proof that God. Is. Bigger.
You can read more from our Opsoclonus Myoclonus Syndrome journey here.
Helpful Resource:
If you are walking through medical parenting, rare disease, grief, faith, or hard seasons, I keep a list of books and resources I have personally found meaningful here: Helpful Resources I Love.
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