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
Is any of this happening now?
Call 911
Call emergency services for:
Severe breathing difficulty, blue or grey lips, or inability to speak
A seizure lasting five minutes or longer, or repeated seizures without recovery
Sudden facial drooping, arm weakness, speech difficulty, or loss of balance
Severe chest pain, collapse, or unresponsiveness
Choking with an inability to breathe or cough effectively
If you have a confirmed disorder, carry emergency information about the diagnosis, medicines, airway concerns, and specialist contact details.
This can be especially important before surgery or anaesthesia.
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
Is any of this happening?
Be seen today
Contact the team sooner for a gradual decline in walking, school or work performance, hearing, vision, breathing, swallowing, or ability to manage daily activities.
Seek prompt medical advice for new weakness, repeated falls, worsening pain, reduced eating or drinking, persistent vomiting, increasing abdominal swelling, or a noticeable drop in exercise tolerance.
A new seizure or sudden change in alertness also needs urgent assessment.
3
Does any of this apply?
Book an appointment
Arrange routine follow-up with the specialist team at the recommended intervals, even if symptoms seem stable.
Every sign above is quoted from the sofidex article on Lysosomal storage disorders. If you are not sure, err upward — it is always reasonable to be checked.