Helpful Downloads

Editable checklist

New Diagnosis Checklist

A simple checklist for the first weeks after a PCD diagnosis. Check things off as you go and add your own notes at the bottom. There is no set order and no deadline. It is just a way to see what is done and what is next.

Confirm diagnosis details with your metabolic specialist (genetic test results, carnitine levels) Start prescribed carnitine supplementation as directed Schedule baseline echocardiogram and EKG Schedule baseline labs (CK, liver enzymes, blood sugar) Get referrals set up: pediatrician, dietitian, cardiologist as recommended Ask your specialist for a written “sick day plan” Ask about genetic/carrier testing for parents and siblings Save your care team's contact info somewhere accessible (see Emergency Card) Set up a daily reminder system for supplement doses Talk to day care/school and share a written care plan (see School Accommodation Template) Fill out an Emergency Card and keep copies with caregivers, school, and in your bag Start a Medication & Symptom Tracker Give yourself time. It is normal to feel overwhelmed at first Look into PCD/rare disease parent support communities Loop in close family or friends who can help with logistics early on Check insurance coverage for supplements, labs, and specialist visits (see Navigating Insurance) Ask your pharmacy about refill logistics and any prior authorization needed Request medical records/genetic test results for your own files

This checklist is a way to stay organized, not medical advice. Your care team's instructions always come first.

Editable card: fill in and print

PCD Emergency Card: Full Size

Fill in and print. Keep a copy with every caregiver, at school, and anywhere your child spends real time.

Name		Date of birth
Diagnosis	Primary Carnitine Deficiency (PCD / CDSP)
Daily supplement & dose
Max safe fasting time

• This person has a metabolic condition (PCD) that can be affected by prolonged fasting, illness, vomiting, or physical stress.
• If unresponsive, unusually lethargic, having trouble breathing, or showing signs of low blood sugar: call 911 / emergency services immediately.
• Please inform treating medical staff of this diagnosis and contact the metabolic specialist listed below as soon as possible.

Parent/Guardian
Parent/Guardian (2)
Metabolic specialist
Pediatrician
Preferred hospital / ER
Pharmacy

This card is a template for your own use. Fill it in with your child's care team and confirm every detail with them. Do not rely on this template alone in an emergency.

Editable card: fill in and print

PCD Emergency Card: Wallet Size

A small version to print, cut out, and carry in a wallet, backpack, or lanyard.

MEDICAL ALERT: Primary Carnitine Deficiency (PCD)
Name
Daily supplement
If unresponsive / severe symptoms	Call 911. Inform staff of metabolic condition.
Emergency contact
Specialist

Print this page, cut along the border, and laminate it or slip it in a card sleeve. Update it whenever a phone number or the dose changes.

Editable card: fill in and print

PCD Emergency Card: Infant Version

For babies and toddlers. Keep one copy in the diaper bag and give one to anyone who cares for your baby. Fill in the last two rows fresh if you are heading to the ER.

Baby's name		Date of birth
Diagnosis	Primary Carnitine Deficiency (PCD / CDSP)
Carnitine dose and times
How my baby is fed
Longest safe time between feeds
If a dose is spit up
Last dose given at		Last feed at

• This baby has a metabolic condition (PCD). Missed feeds, vomiting, fever, or illness can cause low blood sugar and strain on the heart.
• If the baby is hard to wake, limp, breathing fast, refusing to feed, or vomiting repeatedly: call 911 or go to the ER now.
• Tell medical staff about PCD, ask them to check blood sugar right away, and call the metabolic specialist listed below.

Parent/Guardian
Parent/Guardian (2)
Metabolic specialist
Pediatrician
Preferred hospital / ER
Pharmacy

This card is a template for your own use. Fill it in with your baby's care team and confirm every detail with them. Do not rely on this template alone in an emergency.

Editable tracker

Medication & Symptom Tracker

Print a fresh copy each week or month and keep a simple running log. It helps you spot patterns and gives your care team something concrete to look at.

Date	Morning dose taken?	Midday dose taken?	Evening dose taken?	Symptoms / notes

• Missed or delayed doses, and why
• Fatigue, weakness, or muscle symptoms, and what was happening beforehand (fasting, illness, exercise)
• Illness (fever, vomiting, poor appetite) and how you handled it
• Anything new or unusual, even if it seems minor

This tracker is for you. Bring it to appointments so your care team can see patterns. It does not replace a phone call when something worries you.

Editable tracker

Lab Tracker

One place to write down lab results over time, so trends are easy to see across appointments and doctors.

Date	Plasma free carnitine	CK level	Liver enzymes	Echo / EKG findings	Notes

Add or remove columns for whatever your specialist tracks for your child. This is a starting point, not a fixed list.

Keep this alongside your care team's records, not instead of them. It is here to help you stay organized and ask good questions.

Editable template

School Accommodation Template

A starting point for asking your child's school for a 504 plan, plus a one-page summary for teachers. Change anything you like, and show it to your child's doctor before you send it, since some schools want a doctor's signature.

[Date] To: [504 Coordinator / Principal name], [School name] Dear [Name], I am writing to request a meeting to establish a Section 504 Plan for my child, [child's name], who has been diagnosed with Primary Carnitine Deficiency (PCD), a metabolic condition requiring daily medication and consistent access to food throughout the school day. I've attached a brief summary of the condition and a note from their physician. I'd like to discuss accommodations including [snack access during class / bathroom and water access / medication administration / excused absences for medical appointments / other; edit as needed]. Please let me know your availability to meet in the next [timeframe]. Thank you for your help in supporting [child's name] at school. Sincerely, [Your name] [Phone / email]

Student
Condition	Primary Carnitine Deficiency (PCD), a metabolic condition that affects how the body makes energy, especially during fasting or illness.
What this means day to day	May need a snack outside of scheduled snack/lunch times; should not go long periods without eating; may need bathroom or water breaks during PE.
Warning signs to watch for	Unusual fatigue, paleness, shakiness, dizziness, or seeming “off.”
If warning signs appear	Offer a snack; if not better shortly, send to the nurse and contact parent/guardian.
Emergency contact

These are starting templates. Edit the wording and details to fit your child, your school, and your doctor's advice.

Editable checklist

College Readiness Checklist

A checklist for the year or two before college: the skills and paperwork that make the move easier.

Can state exact dose and schedule from memory, without checking notes Has requested a prescription refill independently at least once Knows what pharmacy to use and how far ahead to request refills Can explain the condition clearly and simply to a new doctor or provider Has a plan for what to do if a dose is missed Manages daily reminders/alarms independently Registered with the college's disability/accessibility services office Requested dorm accommodations if needed (mini-fridge, single room, etc.) Identified the campus health center and introduced themselves before an emergency Confirmed insurance coverage will extend to the college's location, including nearby pharmacies Identified the nearest hospital to campus Has a written care summary to share with new providers At least one roommate or close friend knows about the condition and what to do in an emergency Has a plan for keeping parents/family updated as appropriate Knows how to reach their home specialist for questions during the school year (phone, portal, or telehealth)

This checklist is a starting point. Every student and every school is different.

Editable checklist

Travel Checklist

Run through this before any trip: a weekend away, a school trip, or a long vacation.

Pack enough supplement for the full trip, plus several extra days in case of delays Split supply between two bags in case one is lost Keep medication in original, labeled packaging Bring a copy of the prescription or a doctor's letter (especially for flights or international travel) Bring a printed Emergency Card Check dosing schedule adjustment for new time zones ahead of time Research the nearest hospital/pharmacy at your destination If traveling internationally, check whether carnitine supplements are available locally as a backup Confirm travel insurance or regular insurance coverage away from home Keep snacks accessible in carry-on or day bag, not checked luggage Set phone reminders adjusted for the local time zone Let at least one travel companion know what to do in an emergency Plan for meals around long travel days (flights, layovers, road trips) Resume normal dosing schedule/time zone Restock any supplies used during the trip Note any symptoms or issues from the trip in your Medication & Symptom Tracker

This checklist is a planning tool, not medical advice. Check travel questions with your care team, especially for trips abroad.