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Warning-sign checks

Niemann-pick disease: 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 help for severe breathing difficulty, blue or grey lips, choking that does not clear, a prolonged seizure, repeated seizures without recovery, or sudden unresponsiveness.

    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

    Contact the usual specialist team promptly about:

    • New coughing or choking during meals
    • Increasing shortness of breath
    • A noticeable change in swallowing
    • New seizures, cataplexy, or repeated falls
    • Yellow skin or eyes
    • Rapidly increasing abdominal swelling

    Severe pain in the upper left abdomen after a fall or blow also needs urgent assessment because an enlarged spleen can be vulnerable to injury.

  3. 3

    Does any of this apply?

    Book an appointment

    Arrange a routine medical review if you or your child develops a new or gradual change such as increasing falls, worsening speech, reduced appetite, weight loss, more bruising, declining school performance, or greater difficulty with usual activities.

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