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Warning-sign checks

Galactosemia: when to get help

Go through these in order and stop at the first one that applies. If you are reading this for someone else, answer for them.

  1. 1

    Is any of this happening now?

    Call 911

    Seek emergency medical care for a newborn who is difficult to wake, has trouble breathing, appears pale or mottled, has a seizure, or is not responding normally.

    If a baby with suspected or confirmed galactosemia becomes unwell, contact the metabolic team or emergency service using the baby’s emergency care plan.

    Other emergency signs, for anyone
    • Someone who is struggling to breathe, gasping, choking, or cannot get words out
    • Someone who has chest pain, tightness or pressure lasting more than a few minutes
    • Someone who has sudden weakness or drooping on one side of the face or body, slurred speech, or sudden confusion
    • Someone who is unconscious, or cannot be woken
    • Someone who is bleeding heavily and it will not stop with firm pressure
    • Someone who has had a seizure that will not stop, or does not wake up afterwards
    • Someone who has lips or skin that look pale, blue, grey or blotchy
    • Someone who you believe has taken an overdose or swallowed something poisonous
  2. 2

    Is any of this happening?

    Be seen today

    A newborn needs urgent same-day assessment for jaundice, repeated vomiting, poor feeding, unusual sleepiness, fever, or signs of dehydration.

    This is especially important after a positive newborn screening result or when galactosemia runs in the family.

    Do not wait for a routine appointment.

    Contact the metabolic team promptly after a significant feeding or dietary error, especially in an infant, or if prescribed formula is unavailable.

  3. 3

    Does any of this apply?

    Book an appointment

    Arrange routine assessment for slow growth, speech or school difficulties, tremor, balance problems, bone pain, delayed puberty, irregular or absent periods, or difficulty following the dietary plan.

Every sign above is quoted from the sofidex article on Galactosemia. If you are not sure, err upward — it is always reasonable to be checked.