Rare Disease Advocacy

When the diagnosis is rare, the school system rarely knows what to do with it.

I've sat in your chair. I work with families navigating rare, complex, and under-recognized diagnoses — and I know how to make the school system meet your child where they are. Your child cannot wait for them to figure it out.

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Drake and family

Drake's story

My son taught me this work.

Drake was born premature. NICU. A TBR1 diagnosis — a single-gene mutation so rare that most school districts have never heard of it. Apraxia of speech. Sensory processing disorder. ADHD. Every IEP meeting felt like a translation job — explaining what TBR1 even is, fighting for the services the law already entitled him to, then walking out exhausted and starting over.

I did this for years before I did it for anyone else. Drake is the reason I know what your meeting feels like from your side of the table.

Path & credentials

What I've built since.

  • Board member, TBR1 Foundation — supporting families worldwide navigating the same single-gene mutation.
  • AGENDA program advocate — pushing for rare disease policy reform at the school district level.
  • Rare Disease Alliance — speaking circuit and parent advocacy training.
  • 20+ years working inside special education law — IEPs, 504s, FBAs, FERPA, eligibility, and everything that happens when the standard playbook doesn't fit.

Watch

Hear me explain what this work actually looks like.

Most parents don't know what they don't know — until they're sitting at a table with a school district that does. These short videos walk you through what I've learned advocating for children with rare diagnoses, and why generic advocacy doesn't work for complex kids.

Rare Disease Video — TBD

Video 1 will explain why diagnosis-first advocacy matters for rare disease families.

Rare Disease Video — TBD

Video 2 will explain how medical complexity becomes educational impact inside the IEP.

If you saw your child's story in either of these, let's talk.

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Find your child's diagnosis

Rare often means the list hasn't caught up yet.

These are conditions I have advocated for, or that I have direct experience and training with. If your child's condition isn't listed, reach out anyway.

Don't see your diagnosis? Reach out anyway — rare doesn't mean alone.

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Genetic / chromosomal
TBR1 syndromeSYNGAP1Phelan-McDermidSmith-MagenisWilliams syndromeAngelmanPrader-WilliCornelia de LangeDiGeorge (22q11.2)Cri-du-chatRett syndromeFragile XDown syndromeWolf-HirschhornSotos syndrome
Single-gene mutations
SCN2ASCN8ASTXBP1GNAO1GRIN2AGRIN2BCDKL5FOXG1CHD2DYRK1AADNPMEF2CKCNQ2UBE3AMECP2
Metabolic disorders
PKUMCAD deficiencyGlutaric aciduriaMitochondrial diseaseGalactosemiaMaple syrup urine diseaseUrea cycle disordersWilson diseaseNPC (Niemann-Pick C)
Neurological / seizure disorders
Dravet syndromeLennox-GastautWest syndromeDoose syndromeCSWSLandau-KleffnerTuberous sclerosisSturge-Weber
Autism spectrum + co-occurring
ASD with intellectual disabilityASD with apraxiaPDA profileHyperlexiaDemand-avoidant profileASD with ADHDASD with EDS
Speech & language
Childhood apraxia of speech (CAS)Selective mutismSevere expressive language disorderAuditory processing disorderDevelopmental language disorder (DLD)
Sensory & motor
Sensory processing disorderDevelopmental coordination disorder (DCD)DyspraxiaHypotoniaVisual processing disorderCVI
Medical complexity
Tracheostomy / ventilator dependentG-tube fedSeizure-action plans in IEPDiabetes 504 + IEP overlapSevere allergy 504 + IEP overlap

Proof

I am one of a very small number of advocates working almost exclusively with rare diagnoses.

When you call me, you're not training me on your child's condition. You're not the only parent at your district who has ever asked for what you're asking for — even if it feels that way. I bring the specific procedural knowledge, the IEP language, and the network of specialists who can back up the recommendations I make in your child's meeting.

Possibility

Let me carry the legal weight. You stay the parent.

You shouldn't have to become an expert in special education law to get your child what they need. That's my job. Yours is to be at home, eating dinner, reading bedtime stories, holding the line on what your kid actually loves — not drafting IEP goals at midnight.

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Special Education Concierge prepared by Michelle Choairy