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Warning-sign checks

Beckwith-wiedemann syndrome: 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 breathing difficulty, blue or gray lips, a seizure, loss of consciousness, or inability to wake the child normally.

    These are emergency symptoms regardless of whether they are caused by BWS.

    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 child's healthcare team promptly for a new abdominal lump or swelling, blood in the urine, ongoing abdominal pain, unexplained vomiting, loss of appetite, or an unexpected change in energy.

    Follow the child's established glucose plan and seek prompt medical advice if these occur.

    And for anyone, someone who:

    • is getting rapidly more short of breath, or has gained several pounds in a few days with swelling
  3. 3

    Does any of this apply?

    Book an appointment

    Follow-up is most intensive during infancy and early childhood.

    The care plan may include regular visits with primary care and genetics, scheduled tumor surveillance, growth measurements, and review of feeding, breathing, sleep, movement, speech, dental development, and kidney health.

    These symptoms have many possible causes, but they should be assessed rather than saved for a routine visit.

    Routine concerns, such as gradual changes in leg length, speech, tooth position, or school needs, can usually be discussed at a scheduled appointment unless they are rapidly worsening.

The article also says

Keep copies of molecular test results and the surveillance plan.

This information can help new clinicians understand which BWS subtype was found and what monitoring has been recommended.

Families may also benefit from genetic counseling before another pregnancy or when an affected person reaches adulthood.

Symptoms of low blood sugar can include shakiness, sweating, unusual sleepiness, poor feeding, irritability, or confusion.

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