Most days with PCD are ordinary. Forgettable, nothing-to-report days. The whole point of an emergency plan is to make sure the rare bad day stays manageable: for you, for whoever is watching your child when it happens, and for a doctor who has never heard of PCD.
The non-negotiables
Get a written sick-day and emergency plan from your metabolic team, and keep it where you can find it at 3 a.m. It should answer four things: how to handle feeding and the carnitine dose when your child is sick, vomiting, or not eating; which symptoms mean call the office; which symptoms mean go to the emergency room now; and what to tell an ER team that has never seen PCD, including the specific risks of low blood sugar and strain on the heart. Ask for it in writing. Do not rely on something you half remember from a conversation six months ago.
What should you do when your child is sick?
When your child is sick, follow your written plan, and when in doubt, call. Here is the shape most plans take. Your own plan from your specialist is the one to follow.
- Keep the doses going. Give the carnitine on schedule even on a sick day, unless your plan says otherwise.
- Keep food and fluids coming. Small amounts often is fine. The goal is to avoid long stretches with nothing in the stomach.
- Watch for the warning signs your plan lists: unusual sleepiness or hard to wake, refusing to feed, vomiting more than once, fast or labored breathing, pale or clammy skin, or just "not right" to you.
- Call the metabolic team early. Earlier than feels necessary. They would rather hear from you at the first sign than at the fifth.
- Go to the ER if your child cannot keep the dose or fluids down, is very sleepy or limp, is breathing hard, or if your plan says so. Bring the emergency letter and the card.
What should you keep ready at all times?
Keep four things ready at all times: an emergency card, a letter from your specialist, a backup supply of carnitine, and, once your child is away from you regularly, medical ID jewelry.
- An emergency information card. A full-size one for a folder or go-bag, and a wallet-size one for your purse or your child's backpack. Both are in Helpful Downloads, along with an infant version.
- A letter from your metabolic specialist that explains the diagnosis and the emergency plan, for any hospital visit.
- A few days of backup carnitine, kept somewhere you will not forget when you are rushing out the door.
- Medical ID jewelry, especially once your child is in school or spending real time away from you.
Who else should have this information?
Anyone who might be the one to call 911 should have the card and the plan.
- The school nurse and teachers (the School Guide has grade-by-grade detail).
- Day care staff, coaches, camp counselors, and any regular babysitter.
- Grandparents and any family member who watches your child.
What should you do if you're ever in the ER?
If you are in the ER, lead with the diagnosis, hand over the letter, and ask them to call your specialist. PCD is rare enough that many ER doctors have never seen it. That is not a knock on them. It is the reality of a rare condition, and it is why you carry the letter. You are allowed to insist that your metabolic specialist's office be called if there is any uncertainty.
"My child has Primary Carnitine Deficiency. It is a metabolic condition. When they are sick or not eating, they are at risk of low blood sugar and heart strain. Here is the letter from their metabolic specialist with the emergency plan. Please check blood sugar now and call the specialist on this letter."
Then say when the last dose was given, when they last ate or drank, and what symptoms you saw. The emergency card has spaces for all of it.
I'm a person living with PCD, not your doctor. Everything here is to help you understand and ask good questions; your child's metabolic team makes the medical decisions.
Last updated October 2026.