Incandescent
PCP · Family Med (Richard)
Coordination, orders, exams, workups
MCAS · genetic · OB/MFM · thyroid · safety · exams
Specialist involvement
Deo (cards · virtual) · Neal (psych)
Movement I Contain Fire Get safe. Build the foundation. Say the hard things.
Movement I — Contain Fire

Orders going out

  • Mayo random urine MCAS panel (MCMCU) + fasting tryptase + chromogranin A
  • Flare-capture standing tryptase order (patient-carried + ER-facing version)
  • Seven near-term labs: PBG/ALA, catecholamines supine, homocysteine, carnitine, immunoglobulins, transferrin IEF, CPK (~$330)
  • Proband exome sequencing (Invitae) + 4 parallel targeted tests (DMPK CTG, FMR1 CGG, mtDNA, PWS/Angelman methylation)
  • MCAS-specific coag workup on CTAD tubes: anti-Xa, tPA, PAP, fibrinogen, VWF, full lupus anticoagulant, thrombophilia panel
  • Epi-pen Rx + montelukast letter of medical necessity

Referrals & coordination

  • Deo package assembled and sent by Richard: reframe + EKG + echo request + contraindicated agents + ivabradine + exercise Rx + 4 clearances. No visit needed
  • Neal coordination at the four-person visit: PMDD bidirectional framing, ER avoidance + medical trauma, pre-surgical mental health gate, who-manages-what

Procedures & exams

  • Comprehensive physical — 257 items across 12 systems (no one has done a head-to-toe in the entire record). Companion notes provided by system with longitudinal comparison points
  • Psychiatric assessment (11 items) excluded — coordinated separately with Dr. Brian Neal
  • In-office 12-lead EKG (updated QTc — last 480 ms June 2021)
  • Pelvic exam with dissociation context (later, in-house FM — separate visit)

Safety items for the chart

  • Anesthesia protocol on file (bupivacaine not lidocaine, MH precautions, no misoprostol, no NSAIDs)
  • Methylprednisolone on every allergy list + ER-accessible record
  • Epi-pen ER caution card (tachycardic MCAS + epi → V-fib risk)
  • Wildfire smoke protocol (HEPA Rx, N95, med pre-loading, AQI threshold)
  • ER avoidance triage protocol built together + syncope standing order + sanctuary calls clause

Questions that need answers

  • Does the Taumann/Molderings reframe match how you think about my IST?
  • The Feb 2026 thyroid: non-thyroidal illness or impaired peripheral conversion? Dosing decision under your license
  • August 2025 escalation: meaningful change, or one-off? Does it change the threshold for next-tier agents?
  • "When you say 'go to the ER' and I say 'no' — what happens next?"
  • Would a tiered escalation agreement — your authorship, your clinical judgment — be something you'd be willing to build?

Disclosures

  • A disclosure at Richard's visit (not written in this document — should be heard, not read). Coordination visit afterward: Neal + Richard + Eldon + me, billed through Richard's practice or cash pay
  • ER avoidance + medical trauma (dedicated visit — single topic, space to respond)
  • Termination letter context — four exhibits showing the escalation criteria, patient compliance, physician approval of triage, and subsequent termination citing that compliance as non-compliance. Why a written framework is necessary
  • Withholding pattern — disclosed at the coordination visit with Neal present to contextualize why curation happens

Care agreement to build together

  • Tiered escalation framework: RED (go now) / Yellow (call first, callback window) / Green (clinic or home)
  • Per-scenario workup expectations with starred items — Richard's clinical floor, not patient preferences
  • Yellow-tier triage script — reasoning stated explicitly, protects both parties
  • Non-compliance protection clause — Neal co-signs as independent confirmation
  • Bridging care commitment — missing evaluation within agreed timeframe
  • Patient rights appendix — written in Richard's voice, not mine
  • Signatories: Richard (clinical content), me (good faith), Neal (non-compliance clause), possibly Blain + covering physicians

Key literature for this movement

  • Thompson 2002Dev Med Child Neurology. "Benign congenital hypotonia" label outdated since the 1960s; ES as first-tier
  • Morton 2025Neurology (IPCHiP, n=147). 60% molecular diagnosis yield; 58% with multisystem involvement
  • Lee 2026Int J Mol Sci. 72% WES-first yield; 58.8% different diagnosis than initial impression
  • Sharma 2021 — 324-infant hypotonia cohort. PWS/Angelman as most common diagnosis
  • Taumann/Molderings 2025 — IST in MCAS: H2-driven chronotropy + chymase → local RAAS → sympathetic NE. Beta-blocker disinhibition mechanism. Author outreach pending to clarify evidence levels for V-fib risk, disinhibition mechanism, and CTAD protocol
  • Taumann/Kolck — 12/18 MCAS patients had diastolic LV dysfunction on tissue Doppler
  • Valent criteria — tryptase: 20% above baseline + 2 ng/mL for MCAS diagnosis
  • Lisi & Cohn 2011 — case for ES-first over phenotype-led panels in hypotonia
  • Roberts 2017 — AADC hypothesis. Enzymology never returned (2 insurance denials). OAT weakens but ES would close
Richard's visit · intake + document handoff agenda →
CoordHand off the working framework
introduce the case summary · ask Richard to review before the next visit · no orders, no decisions
DisclosureA disclosure — should be heard, not read
not written in this document · Neal and Eldon already know · coordination visit to follow
Comprehensive physical — 257 items across 12 systems agenda →
ExamHead-to-toe comprehensive physical with longitudinal comparison points
no one has done this in the entire record · every prior physical has been problem-focused · companion notes provided by system
Safety paperwork + labs + EKG + cards package + wildfire protocol agenda →
SafetySafety paperwork and chart hygiene
anesthesia protocol · methylprednisolone allergy · MCAS premed · epi-pen + ER caution · montelukast letter · endpoints baseline
MCASMayo random urine MCAS panel + tryptase ordered
MCMCU single specimen · fasting tryptase · chromogranin A · target window Sept 15–Oct 1 · luteal + smoke + full washout
LabsSeven near-term labs ordered (~$330)
PBG/ALA · catecholamines · homocysteine · carnitine · immunoglobulins · transferrin IEF · chromogranin A
ExamIn-office 12-lead EKG
updated QTc (last 480 ms June 2021) · rhythm strip · five minutes
CoordAssemble Deo package: reframe + EKG + workup request
Richard sends, Deo reviews · beta-blocker + ACE-I CI · ivabradine · 4 clearances
Deo reviews package…
EnvWildfire smoke protocol
HEPA Rx · N95 · med pre-loading · AQI threshold · portal-weight unless August report needs face time
MCASAugust 2025 escalation event — formal report
photos + timeline · diphenhydramine ceiling · first petechiae · next-flare protocol
Coordination visit — Neal + Richard + Eldon + me agenda →
CoordFour-person coordination following the disclosure
Neal (boutique psych, won't bill insurance) · Richard (insurance or cash pay) · everyone in the room, everyone on the same page
PMDDBidirectional framing + tracking setup
MCAS-PMDD axis · fexofenadine · daily log · 2-cycle min
CoordNeal–Richard coordination: ER avoidance + medical trauma
pre-surgical mental health gate confirmed active · 14-session plan status
DisclosureWithholding pattern — "how do you want to handle the curated version?"
Neal in the room · structural context for why curation happens · build the protocol together
ER avoidance disclosure + care agreement (first pass) agenda →
DisclosureER avoidance + medical trauma + four exhibits
the disclosure is the case for the framework · exhibits A–D · "that's why I need this"
FrameworkTiered escalation agreement — first pass at structure
RED / Yellow / Green tiers · doesn't need to be finished today · but the door-opening and first pass happen together
Genetic orders + coag workup + bleeding timeline agenda →
GeneticProband ES + parallel tests ordered
Invitae coverage · ES + 4 parallels · gene flagging · no genetics referral
→ critical path
CoagMCAS-specific coag workup (CTAD) + bleeding phenotype
anti-Xa · tPA · PAP · CTAD fibrinogen · VWF · full LA · thrombophilia · 30-year bleeding timeline
Thyroid — portal thread unless Richard flags details →
ThyroidFeb 2026 discordant pattern — portal-weight unless in-person needed
TSH 1.2 normal · FT4 2.5 HIGH · rT3 55.9 HIGH · "which framework?" + dosing decision · might not need a visit
Movement II Understand Fire Results come back. The picture clarifies. What are we dealing with?
Movement II — Understand Fire

Results to review

  • Seven near-term lab results (PBG/ALA, catecholamines, homocysteine, carnitine, immunoglobulins, transferrin IEF, CPK) — any positive redirects the genetic priority list
  • Mayo MCAS mediator panel + tryptase — diagnostic foundation consolidates, stays soft, or documented gap
  • CTAD coagulation workup results — MCAS-driven vs primary hemostatic defect differentiated
  • Targeted genetic tests (DMPK, FMR1, mtDNA, imprinting) — all four should be back
  • Exome sequencing report — critical path resolution. Pre-digested before the visit

Referrals & coordination

  • OB/MFM referral placed (dedicated visit — emotionally heavy, Richard present as support)
  • Cards + psych plans documented into PCP chart — med interactions, QTc combos, care map who-prescribes-what
  • Route Liang-Hai's reproductive health concern — physician-to-physician signal

Procedures & exams

  • Pelvic exam — Richard's baseline with dissociation context briefed (in-house FM, not deferred to OB)

Decisions to make

  • MCAS mediator results: consolidate / repeat / document gap? Stability criteria discussed — my working definition offered, Richard's definition requested
  • MCAS treatment escalation: current tier adequate? Cromolyn retrial? Omalizumab pathway? Insurance pre-auth from August 2025 ceiling
  • Targeted genetic: if any positive, changes everything. If negative, document and await ES
  • CTAD coag: MCAS-downstream vs primary hemostatic — informs FGB/FGG interpretation when ES returns
  • ES debrief: actionable findings? VUS in safety-tier genes? Forced referrals? Coverage map: tested vs not tested
  • OB intake prep: 6 preconception gates status, RPL workup items assembled, surgical gating

Conversations

  • Endometriosis history + surveillance question: since pain isn't a reliable sentinel, should imaging be on a schedule?
  • Deo reframe discussion + exercise Rx + 4 cardiac clearances (virtual visit)

Key literature for this movement

  • Taumann/Molderings 2025 — mechanistic reframe: mediator-driven IST, not primary SA node pathology. Beta-blocker disinhibition, ACEi bradykinin contraindication
  • Taumann/Kolck — diastolic dysfunction in 12/18 MCAS patients on tissue Doppler. Basis for echo with E/e' request
  • Mayo Clinic Laboratories — MCMCU random urine panel methodology. N-methylhistamine, 11β-PGF2α, LTE4
  • October 2024 PTT-LA 1.21 — indeterminate lupus anticoagulant without confirmation steps (mixing study, hexagonal phospholipid neutralization). Would need to be rerun to completion
  • Fibrinogen 583 mg/dL (Oct 2024) — anchoring abnormal lab for FGB/FGG and coag pathway. May reflect acute-phase, dysfibrinogenemia, or MCAS-driven elevation
  • Feb 2026 thyroid panel — TSH 1.2 normal, FT4 2.5 HIGH (mass spec, upper limit 1.77), rT3 55.9 HIGH. Discordant pattern: non-thyroidal illness or impaired peripheral conversion
Pelvic exam + endometriosis conversation (dedicated) agenda →
ExamPelvic exam — baseline with dissociation context
Richard's hands · Richard's baseline · "I'd prefer you handle routine gyn in-house"
EndoEndometriosis history + surveillance question
surgical history · remaining right tube · dissociation means pain isn't a reliable sentinel · schedule-based imaging?
Lab results + MCAS results agenda →
Labs◆ Seven near-term lab results review
any positive changes the genetic priority list before ES returns
MCAS◆ Mediator results — decision point
Mayo panel + tryptase · consolidate, repeat, or document gap · stability criteria
OB/MFM referral (dedicated) agenda →
OB/MFMReferral — with support
for what exceeds FM scope · Richard's pelvic exam accompanies the referral · Richard present as support
Coordinate + targeted genetic + coag results agenda →
CoordCards + psych plans into PCP chart
document both plans · med interactions · QTc combos · care map
Genetic◆ Targeted test results (DMPK, FMR1, mtDNA, imprinting)
if any positive: changes everything · if negative: document, await ES
Coag◆ CTAD coagulation results
MCAS-driven vs primary hemostatic · informs FGB/FGG when ES returns
MCAS escalation + OB prep + Liang-Hai's signal agenda →
MCASTreatment escalation decision
cromolyn retrial? · omalizumab pathway? · insurance pre-auth from documented ceiling
OB/MFMOB intake prep + RPL gating review
6 gates · RPL workup items · surgical gating · endo imaging · pelvic exam in hand
DisclosureRoute Liang-Hai's reproductive health concern
physician-to-physician signal · name the concern · lands with OB prep
ES debrief (dedicated) agenda →
Genetic◆ ES report debrief + coverage gap reconciliation
pre-digested · actionable findings · VUS catalogue · forced referrals · coverage map
critical path resolves here
Movement III Play With Fire (fingers crossed) Build toward the surgery and the pregnancy.
Movement III — Play With Fire (fingers crossed)

Destination 1: Hattiangadi excision (~January 2027)

  • Pre-surgical readiness — Richard defines the gate list. Domains I've been thinking about: MCAS stability, cardiac clearance, thyroid, hemoglobin, emotional readiness, surgical team preparation
  • MCAS anesthesia protocol finalized for Hattiangadi's team (pre-med, bupivacaine, no misoprostol, recovery room flare plan visible)
  • Patient safety protocol communicated to surgical team
  • ES findings integrated into anesthetic plan if relevant (RYR1, DMPK, COL6, FBN1)
  • Post-surgical timeline: Hattiangadi sign-off required before conception. 3+ months surgical recovery before attempting

Destination 2: Pregnancy — True North Birth Center as plan A

  • Preconception readiness — Richard defines the gate list. Domains: MCAS stability, cardiac clearance, thyroid, surgical recovery, emotional readiness, reporting protocols
  • True North Birth Center engaged as plan A
  • Standing protocols in place before conception: early viability imaging (TV US + serial hCG at 5–6 weeks), luteal-phase progesterone monitoring, thyroid protocol (increase LT4 immediately on positive HCG)
  • RPL workup complete: Pregmune IRMA panel (comprehensive reproductive immunology — covers thrombophilia, PAI-1, NK activity, parental karyotyping, autoimmunity, histocompatibility) + POC CMA standing order
  • Language norms communicated to entire care team
  • Both loss-management pathways documented as compromised: misoprostol CI, D&C requires MCAS-aware anesthesia. Expectant management as default. Wallet card
  • Ectopic protocol: one tube remaining, two-call signal

Ongoing care

  • Functional endpoints become standing measurement at every visit (slide clicker, planting, sleep, exercise)
  • Annual labs template finalized and front-loaded before visits
  • MCAS-adjusted immunization and screening protocols in place (Pap with Richard, colonoscopy prep identified)
  • Wildfire protocol reviewed for next season
  • PCP quarterly vs semi-annual cadence defined per channel

Key literature for this movement

  • Hattiangadi — excision surgeon. 2024 precedent: surgery successful, post-op MCAS flare managed with DPH + montelukast. Repeat excision targeted January 2027
  • PAI-1 4G/4G — endometriosis → impaired fibrinolysis → early pregnancy loss pathway (Hypothesis #4 in condition network)
  • Pregmune IRMA panel — comprehensive reproductive immunology assessment covering KIR/HLA-C interaction, parental karyotyping, PAI-1 alleles, NK cytotoxic activity, Th1/Th2 ratio, regulatory T cells, APAs, complement, thyroid, metabolism, and nutritional markers. Physician-reviewed with ASRM/ACOG/ESHRE-referenced treatment recommendations
  • FGB/FGG — hereditary dysfibrinogenemia. ES covers both genes. If confirmed: LMWH in pregnancy
  • FMR1 premutation (55–200 CGG) — Fragile X-associated primary ovarian insufficiency, directly relevant to RPL
  • DMPK — if confirmed: congenital DM1 in offspring has very high neonatal mortality. Anticipation in maternal transmission
  • Misoprostol CI (October 2020) + D&C anesthesia reaction (January 2024) — both standard loss-management pathways compromised. Expectant management as default
Endpoints + preventive protocols agenda →
EndpointsFunctional endpoint re-measurement
slide clicker · planting (October happened) · sleep · exercise
SafetyImmunization + screening modifications
MCAS-adjusted vaccination · Pap with Richard in-house · colonoscopy prep · annual labs
Hattiangadi excision readiness — pre-surgical gate check agenda →
Endo◆ Pre-surgical readiness — Richard's gate check
MCAS stability · cardiac · thyroid · hemoglobin · emotional readiness · surgical team — your criteria, not mine
SafetyFinalize MCAS anesthesia protocol + patient safety protocol for Hattiangadi team
pre-med · bupivacaine · no misoprostol · recovery room flare plan visible
Pregnancy protocol — True North Birth Center as plan A agenda →
OB/MFM◆ Preconception readiness — Richard's gate check
MCAS stability · cardiac · thyroid · surgical recovery · emotional readiness · reporting — your criteria, not mine
OB/MFMTrue North Birth Center — plan A + MCAS pregnancy protocol
viability imaging · progesterone monitoring · language norms · ectopic protocol · loss pathways documented
CoordOngoing care cadence
PCP quarterly vs semi-annual · wildfire protocol · patient becomes the integrator