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Warning-sign checks

Sphingomyelinase deficiency: 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

    Call emergency services for:

    • Severe or rapidly worsening difficulty breathing
    • Blue or grey lips or skin
    • Uncontrolled or heavy bleeding
    • Fainting with abdominal pain
    • Sudden severe weakness or unresponsiveness

    These symptoms are not a routine part of follow-up and need immediate assessment.

    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

    Arrange routine or prompt medical review for new or worsening symptoms such as increased tiredness, frequent bruising, recurrent chest infections, reduced stamina, abdominal discomfort, feeding problems, or changes in development and movement.

    If you receive enzyme replacement therapy, report symptoms during or after an infusion promptly.

    These may include rash, fever, headache, nausea, breathing symptoms, or feeling faint.

    The infusion team can assess whether treatment needs to be paused or adjusted.

    Seek urgent medical care after a significant blow to the abdomen, especially if there is new pain beneath the left ribs, left shoulder pain, dizziness, weakness, or fainting.

    These can be signs of bleeding from an injured spleen.

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