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 trouble breathing, blue or grey lips, or choking that does not clear
A seizure lasting five minutes or longer
Repeated seizures without recovery between them
Unresponsiveness or a sudden inability to wake normally
Follow an existing emergency plan if the specialist team has provided one.
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
If MLD has already been diagnosed, contact the care team promptly about worsening swallowing, repeated coughing during meals, weight loss, new seizures, increasing pain, or changes in breathing and mucus clearance.
Seek urgent medical help for a first seizure, a major sudden decline, signs of dehydration, or symptoms of a chest infection in someone who has swallowing or coughing difficulties.
3
Does any of this apply?
Book an appointment
Arrange a routine medical review if you notice unexplained loss of previously learned movement, language, school, work, or self-care skills.
Ongoing falls, increasing stiffness, swallowing changes, or new behaviour and thinking problems also need assessment.
These concerns are usually not emergencies, but they should not be ignored.
Every sign above is quoted from the sofidex article on Metachromatic leukodystrophy. If you are not sure, err upward — it is always reasonable to be checked.