Familial alobar holoprosencephaly: 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
Is any of this happening now?
Call 911
Call emergency services for severe breathing difficulty, blue or grey skin, unresponsiveness, or a seizure that continues beyond the person’s emergency plan.
Repeated seizures without recovery between them also require emergency help.
Families caring for someone at risk of seizures or breathing pauses should have an individual emergency plan explaining what can be managed at home and what requires immediate help.
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
Report new feeding difficulty or possible hormone symptoms promptly.
Seek urgent medical advice for:
More coughing, choking or distress during feeds
Repeated vomiting or inability to keep feeds down
Much less urine, a very dry mouth or other signs of dehydration
A new seizure or a clear change in seizure pattern
Fever with unusual sleepiness or worsening breathing
Sudden excessive thirst and urination
3
Does any of this apply?
Book an appointment
Use routine appointments to discuss gradual changes in growth, muscle tone, sleep, constipation, development, equipment needs or seizure control.
Every sign above is quoted from the sofidex article on Familial alobar holoprosencephaly. If you are not sure, err upward — it is always reasonable to be checked.