Let me tell you about Sarah.
She’s 8 years old. Diagnosed with a rare mitochondrial disorder. Only a few dozen documented cases like hers.
Her mom walks into my office — not with questions about treatment — but with a three-inch binder full of denied claims. Pages and pages of “not medically necessary” stamped in red.
“I’ve spent more time arguing with insurance than actually caring for her.”
And sadly, I hear this all the time.
This isn’t about bad luck. It’s about a system that was never built for patients like Sarah.
🚨 Hot Take: The system isn’t broken — it was designed to fail rare disease patients.
You can’t force complex, life-saving treatments into a one-size-fits-all billing system and expect it to work.
The result? Patients suffer. Families burn out. Providers rage-quit the process.
Rare disease care requires rare billing expertise. And right now, we’re failing.
👊 Pain → Tactical Solutions: What You Can Do About It
Here’s what I’ve learned (often the hard way):
1. Stop trusting the “standard” process. It’s not for you.
Rare disease billing doesn’t follow rules — it breaks them. Start thinking beyond the usual pre-auth + claim + wait formula.
2. Document like you're writing a legal thriller.
Include everything:
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Genetic testing results
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Specialist notes
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Published case reports
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FDA approvals
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Why this and not that explanations
One vague line = one more denial.
3. Pick the weirdest, most specific ICD-10 code you can find.
Yes, even that long, obscure one. Broad codes = auto-denial. Specifics show you know what you’re doing.
4. Send a “shadow appeal” before you get denied.
Pre-emptive appeals with documentation often flag your case for manual review. Don’t wait for the rubber stamp denial.
5. Don’t go it alone. Find niche billing pros.
Rare disease billing is its own universe. Look for coders, advocates, or billing consultants who specialize here.
🧠 What the Experts Are Saying
🧬 Dr. Anne Pariser, Director, NIH Office of Rare Diseases Research
“People with rare diseases face up to five times higher healthcare costs. But the burden is deeper — it's about emotional burnout, financial collapse, and delay in care.”
👉 Read about her work at NIH
⚖️ Jamie Sullivan, VP of Policy, EveryLife Foundation
“Without targeted tax credits like the Orphan Drug Tax Credit, there’s no business case for treating rare diseases. We must restore these incentives — urgently.”
👉 Explore Cameron’s Law
💡 Dr. William Smith, Pioneer Institute
“ICER’s QALY model was built for common conditions — not for rare, devastating ones. We need frameworks that reflect real-world impact, not outdated math.”
👉 Read his policy brief
🧩 Frequently Asked Questions (FAQ)
Q1: Why is billing harder for rare diseases?
A: Insurance systems are built around common, repeatable treatments. Rare disease care is expensive, complex, and often doesn’t fit their models.
Q2: What causes the most denials?
A:
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Missing or vague codes
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“Experimental” treatments
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Lack of pre-auth
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Incomplete documentation
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Out-of-network specialists
Q3: Where can families or clinics get help?
A:
Check out:
They offer resources, peer support, and appeal assistance.
Q4: How can I get claims approved faster?
A:
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Add detailed physician letters
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Reference published studies
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Customize every appeal
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Track every call and denial
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Start appeals before the denial
💬 My First Failure — And Why I Won’t Forget It
I once submitted a genetic panel for a kid without checking the pre-auth rules. Denied. The cost? $4,300.
The family paid out of pocket. I apologized. But I’ll never stop kicking myself for it. That mistake was mine.
👂 Testimonials
“Three denials overturned. Your sample letters saved our sanity.”
— Jess, rare disease mom turned advocate
“Your billing tips recovered $14,000 in unpaid claims last quarter.”
— Mike, pediatrician in rural Iowa
🚀 Call to Action: Get Involved
Whether you’re a provider, a parent, or a policymaker — this matters. The billing system isn’t just paperwork. It’s a barrier to life-saving care.
✅ Get involved
✅ Join the movement
✅ Step into the conversation
✅ Start your journey
✅ Be part of something bigger
✅ Take action today
✅ Help shape the future
✅ Raise your hand. Lend your voice. Be the change.
Let’s fix this together — one patient, one claim, one voice at a time.
💬 Drop a comment, DM me, or just pass this on to someone who needs to hear it.
→ Your voice matters. Let’s do this.
📚 More Resources to Explore
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NIH on Rare Disease Research Progress
👉 Dr. Anne Pariser’s work at NIH -
Cameron’s Law: Reinstating the Orphan Drug Tax Credit
👉 Read about the bill -
QALY Doesn’t Work for Rare Disease
👉 Pioneer Institute’s full report -
NIH Study on Rare Disease Costs
👉 See the financial burden breakdown -
EveryLife Foundation Statement on ODTC Changes
👉 Their official response
🔖 Hashtags
#RareDisease #MedicalBilling #HealthcareAccess #InsuranceDenials #OrphanDrugs #PatientAdvocacy #ValueBasedCare #PriorAuthorization #RareDiseaseAwareness #HealthPolicy #MedicalCoding #AppealDenied #HealthEquity #FixTheSystem #StepIntoTheConversation
