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Before you begin
Use this worksheet to organize your child's medical information before visiting a new specialist.
Rare conditions are interconnected. This worksheet helps a new specialist see the full picture… not just their piece of it.
1
Diagnosis Summary
Diagnosis name
Gene involved
Date of diagnosis
Inheritance pattern
Systems commonly affected by this condition — list systems based on known literature, even if not currently symptomatic.
Neurology
Endocrine
ENT / Airway
Cardiology
Musculoskeletal
Gastrointestinal
Additional system
Additional system
Additional system
Notes
2
Current Diagnoses by System
Under each system, list what is currently confirmed and any active treatments.
Neurology
Endocrine
ENT / Airway
Cardiology
Musculoskeletal
Gastrointestinal
Other
3
Baseline Testing Completed
What has been done? What needs repeat monitoring? What gaps exist?
Neurology
Endocrine
ENT / Airway
Cardiology
Musculoskeletal
Gastrointestinal
Other
4
Cross-System Considerations
Note connections between systems. This invites collaboration, not confrontation.
Example: Sleep-disordered breathing may impact growth hormone processing and endocrine outcomes.
Example: Hypotonia may affect airway stability, increasing sleep apnea risk.
Example: Hypotonia may affect airway stability, increasing sleep apnea risk.
Your cross-system notes
5
Questions for the Specialist
Suggested questions to bring. Check the ones you want to ask, and add your own.
Your additional questions
6
Before Your Appointment
Keep your summary to one page if possible.
Include the detailed system breakdown only if needed.
Bring your full genetic report only if the specialist requests it.
Not a binder. Not overwhelming. Just what matters.
Include the detailed system breakdown only if needed.
Bring your full genetic report only if the specialist requests it.
Not a binder. Not overwhelming. Just what matters.