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Warning-sign checks

Achondroplasia: 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
    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

    Does any of this apply?

    Book an appointment

    Achondroplasia requires lifelong follow-up, but the focus changes with age.

    Infants need close monitoring of head growth, breathing, muscle tone, development, and the opening at the base of the skull.

    Children need continued review of hearing, sleep, dental health, spinal alignment, leg bowing, weight, and progress at school.

    Follow-up may involve genetics, neurosurgery, orthopedics, ear, nose, and throat care, audiology, sleep medicine, dentistry, physical therapy, and rehabilitation.

    Not every person needs every specialist.

    A coordinated care plan can reduce unnecessary testing while making sure important concerns are not missed.

    Emotional well-being should be part of routine care.

    Children and adults may encounter stigma, unwanted attention, or barriers in buildings, education, employment, and health care.

    Connection with peer organizations, counseling, and disability accommodations may be helpful when chosen by the individual or family.

The article also says

Adults should report changes in walking, balance, strength, sensation, bladder or bowel control, pain, and sleep quality.

These symptoms may suggest spinal stenosis or another treatable problem.

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